#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
EXOSC3	51010	broad.mit.edu	37	9	37785000	37785000	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr9:37785000G>A	ENST00000327304.5	-	1	54	c.42C>T	c.(40-42)ggC>ggT	p.G14G	EXOSC3_ENST00000396521.3_Silent_p.G14G|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_5'Flank	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	14					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		GCGCCCTGCTGCCCGCGAGAG	0.682																																						ENST00000327304.5																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(40-42)ggC>ggT		exosome component 3							21.0	21.0	21.0					9																	37785000		2201	4298	6499	SO:0001819	synonymous_variant	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37785000G>A	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"""exosome component Rrp40"", ""CGI-102 protein"""	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.42C>T	9.37:g.37785000G>A						RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Silent_p.G14G	p.G14G	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	1	54	-			14					A8K0K6|Q5QP85|Q9Y3A8	Silent	SNP	ENST00000327304.5	37	c.42C>T	CCDS35016.1																																																																																				0.682	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		29	2	0	0	0	1	0	29	2				
GABRB2	2561	broad.mit.edu	37	5	160721270	160721270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr5:160721270G>A	ENST00000393959.1	-	10	1356	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R415*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R415*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R352*|GABRB2_ENST00000274547.2_Nonsense_Mutation_p.R453*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R255*			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	453					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAGCATTTCGGCCAAAACTA	0.532																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1357-1359)Cga>Tga		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						106.0	95.0	99.0					5																	160721270		2203	4300	6503	SO:0001587	stop_gained	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721270G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1357C>T	5.37:g.160721270G>A	ENSP00000377531:p.Arg453*					GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R352*|GABRB2_ENST00000393959.1_Nonsense_Mutation_p.R453*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R255*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R415*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R415*	p.R453*	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1574	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	453					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Nonsense_Mutation	SNP	ENST00000393959.1	37	c.1357C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	37	6.403265	0.97537	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	.	.	.	5.74	2.9	0.33743	.	0.463565	0.23088	N	0.052073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	9.2615	0.37614	0.0674:0.0:0.6539:0.2787	.	.	.	.	X	453;453;415;415;352;255	.	ENSP00000274547:R453X	R	-	1	2	GABRB2	160653848	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.513000	0.67037	0.301000	0.22738	-0.284000	0.09977	CGA		0.532	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			47	48	0	0	0	1	0	47	48				
SPOP	8405	broad.mit.edu	37	17	47699375	47699375	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:47699375G>A	ENST00000393328.2	-	4	498	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	SPOP_ENST00000347630.2_Missense_Mutation_p.R45W|SPOP_ENST00000393331.3_Missense_Mutation_p.R45W|SPOP_ENST00000503676.1_Missense_Mutation_p.R45W|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000504102.1_Missense_Mutation_p.R45W	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	45	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.R45W(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						ATTTCCTCCCGGCAAAAGCTA	0.358										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.R45W(1)	endometrium(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(133-135)Cgg>Tgg		speckle-type POZ protein							64.0	61.0	62.0					17																	47699375		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47699375G>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.133C>T	17.37:g.47699375G>A	ENSP00000377001:p.Arg45Trp	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.R45W|SPOP_ENST00000504102.1_Missense_Mutation_p.R45W|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.R45W|SPOP_ENST00000347630.2_Missense_Mutation_p.R45W	p.R45W	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			5	603	-			45			MATH.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.133C>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690271	0.68271	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476	T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.34	5.34	0.76211	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.62723	1.935	0.80722	D	1	B	0.27997	0.197	B	0.23574	0.047	T	0.43376	-0.9395	10	0.62326	D	0.03	-0.8606	18.8261	0.92119	0.0:0.0:1.0:0.0	.	45	O43791	SPOP_HUMAN	W	45	ENSP00000377001:R45W;ENSP00000377004:R45W;ENSP00000240327:R45W;ENSP00000425905:R45W;ENSP00000420908:R45W;ENSP00000426986:R45W;ENSP00000420960:R45W;ENSP00000426262:R45W;ENSP00000424119:R45W;ENSP00000426537:R45W;ENSP00000425410:R45W	ENSP00000240327:R45W	R	-	1	2	SPOP	45054374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.497000	0.73674	2.781000	0.95711	0.650000	0.86243	CGG		0.358	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		30	5	0	0	0	1	0	30	5				
ZNF99	7652	broad.mit.edu	37	19	22939890	22939890	+	IGR	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:22939890G>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.S814F|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.383																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2440-2442)tCc>tTc		zinc finger protein 99							94.0	108.0	104.0					19																	22939890		2097	4247	6344	SO:0001628	intergenic_variant	7652							g.chr19:22939890G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939890G>A							p.S814F							6	2440	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2441C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.685591	0.00745	.	.	ENSG00000213973	ENST00000397104	T	0.36340	1.26	1.14	-2.28	0.06826	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28200	0.0696	M	0.73372	2.23	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38156	-0.9674	9	0.12430	T	0.62	.	3.9319	0.09290	0.0:0.1756:0.422:0.4024	.	814	A8MXY4	ZNF99_HUMAN	F	814	ENSP00000380293:S814F	ENSP00000380293:S814F	S	-	2	0	ZNF99	22731730	0.000000	0.05858	0.001000	0.08648	0.201000	0.24016	-1.063000	0.03465	-0.608000	0.05731	0.173000	0.16961	TCC		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		35	37	0	0	0	1	0	35	37				
EPS15	2060	broad.mit.edu	37	1	51826976	51826976	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:51826976T>C	ENST00000371733.3	-	24	2507	c.2411A>G	c.(2410-2412)gAt>gGt	p.D804G	EPS15_ENST00000371730.2_Missense_Mutation_p.D670G|EPS15_ENST00000396122.4_Missense_Mutation_p.D481G	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	804	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTGAAATGGATCATTCAGTTT	0.368			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(2410-2412)gAt>gGt		epidermal growth factor receptor pathway substrate 15							133.0	118.0	123.0					1																	51826976		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51826976T>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2411A>G	1.37:g.51826976T>C	ENSP00000360798:p.Asp804Gly					EPS15_ENST00000396122.4_Missense_Mutation_p.D481G|EPS15_ENST00000371730.2_Missense_Mutation_p.D670G	p.D804G	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			24	2507	-			804			15 X 3 AA repeats of D-P-F.|Pro-rich.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.2411A>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726247	0.48833	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.59638	0.25;0.25;0.25	5.85	5.85	0.93711	.	.	.	.	.	T	0.72391	0.3454	L	0.57536	1.79	0.50813	D	0.999897	D;B;D	0.89917	0.997;0.062;1.0	D;B;D	0.91635	0.989;0.028;0.999	T	0.73011	-0.4117	9	0.49607	T	0.09	.	14.8025	0.69926	0.0:0.0:0.0:1.0	.	670;804;490	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	G	670;804;481	ENSP00000360795:D670G;ENSP00000360798:D804G;ENSP00000379428:D481G	ENSP00000360795:D670G	D	-	2	0	EPS15	51599564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.169000	0.64984	2.230000	0.72887	0.482000	0.46254	GAT		0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		10	83	0	0	0	1	0	10	83				
HCCS	3052	broad.mit.edu	37	X	11139870	11139870	+	Silent	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:11139870A>G	ENST00000321143.4	+	7	949	c.747A>G	c.(745-747)ttA>ttG	p.L249L	HCCS_ENST00000380762.4_Silent_p.L249L|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Silent_p.L249L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	249					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						GTCCTGCCTTAGATTCACTTT	0.433																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(745-747)ttA>ttG		holocytochrome c synthase							131.0	103.0	112.0					X																	11139870		2203	4300	6503	SO:0001819	synonymous_variant	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139870A>G		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.747A>G	X.37:g.11139870A>G						ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Silent_p.L249L|HCCS_ENST00000380762.4_Silent_p.L249L	p.L249L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			7	949	+			249					B3KUS1|Q502X8	Silent	SNP	ENST00000321143.4	37	c.747A>G	CCDS14139.1																																																																																				0.433	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			5	62	0	0	0	1	0	5	62				
KLHL4	56062	broad.mit.edu	37	X	86888868	86888868	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:86888868T>G	ENST00000373119.4	+	8	1814	c.1669T>G	c.(1669-1671)Tca>Gca	p.S557A	KLHL4_ENST00000373114.4_Missense_Mutation_p.S557A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	557						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCCAGTATGTCAACTCCTAG	0.423																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1669-1671)Tca>Gca		kelch-like family member 4							165.0	131.0	142.0					X																	86888868		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86888868T>G	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1669T>G	X.37:g.86888868T>G	ENSP00000362211:p.Ser557Ala					KLHL4_ENST00000373114.4_Missense_Mutation_p.S557A	p.S557A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			8	1814	+			557					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1669T>G	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796013	0.50208	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.66815	-0.23;-0.23	4.72	3.51	0.40186	Galactose oxidase, beta-propeller (1);	0.072240	0.64402	D	0.000019	T	0.59878	0.2226	L	0.53780	1.695	0.58432	D	0.999997	B;B	0.16166	0.011;0.016	B;B	0.22880	0.042;0.026	T	0.55842	-0.8077	10	0.52906	T	0.07	.	9.0941	0.36629	0.1661:0.0:0.0:0.8339	.	557;557	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	A	557	ENSP00000362211:S557A;ENSP00000362206:S557A	ENSP00000362206:S557A	S	+	1	0	KLHL4	86775524	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	5.588000	0.67517	0.603000	0.29913	0.412000	0.27726	TCA		0.423	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			4	54	0	0	0	1	0	4	54				
NTN3	4917	broad.mit.edu	37	16	2522127	2522127	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:2522127G>A	ENST00000293973.1	+	1	628	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	142	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GACCATGGCCGCAGCTGGGCC	0.677																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(424-426)cGc>cAc		netrin 3							27.0	32.0	30.0					16																	2522127		2197	4300	6497	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522127G>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.425G>A	16.37:g.2522127G>A	ENSP00000293973:p.Arg142His						p.R142H	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	628	+			142			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.425G>A	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	G	8.584	0.883016	0.17467	.	.	ENSG00000162068	ENST00000293973	T	0.37058	1.22	4.08	3.12	0.35913	Laminin, N-terminal (3);	0.173961	0.37669	N	0.001983	T	0.28665	0.0710	L	0.52573	1.65	0.37869	D	0.929991	B	0.17465	0.022	B	0.15484	0.013	T	0.17868	-1.0355	10	0.52906	T	0.07	.	5.575	0.17218	0.3173:0.0:0.6827:0.0	.	142	O00634	NET3_HUMAN	H	142	ENSP00000293973:R142H	ENSP00000293973:R142H	R	+	2	0	NTN3	2462128	0.996000	0.38824	1.000000	0.80357	0.755000	0.42902	3.460000	0.53028	0.937000	0.37394	0.462000	0.41574	CGC		0.677	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		3	40	0	0	0	1	0	3	40				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	44	0	0	0	1	0	3	44				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		5	18	0	0	0	1	0	5	18				
KRIT1	889	broad.mit.edu	37	7	91851246	91851246	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:91851246A>T	ENST00000340022.2	-	14	2551	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E	KRIT1_ENST00000394503.2_Missense_Mutation_p.D463E|KRIT1_ENST00000412043.2_Missense_Mutation_p.D511E|KRIT1_ENST00000394505.2_Missense_Mutation_p.D511E|KRIT1_ENST00000394507.1_Missense_Mutation_p.D511E	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	511	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGTCTCACATCTCTTCTTA	0.368																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(1531-1533)gaT>gaA		KRIT1, ankyrin repeat containing							80.0	79.0	79.0					7																	91851246		2203	4300	6503	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91851246A>T	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1533T>A	7.37:g.91851246A>T	ENSP00000344668:p.Asp511Glu					KRIT1_ENST00000394503.2_Missense_Mutation_p.D463E|KRIT1_ENST00000394505.2_Missense_Mutation_p.D511E|KRIT1_ENST00000412043.2_Missense_Mutation_p.D511E|KRIT1_ENST00000340022.2_Missense_Mutation_p.D511E	p.D511E	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		15	2316	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		511			FERM.|Required for RAP1A binding.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.1533T>A	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169489	0.78452	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;T	0.70282	1.0;1.0;1.0;1.0;-0.47	5.62	4.48	0.54585	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	L	0.53249	1.67	0.58432	D	0.999997	D;D;D	0.76494	0.994;0.999;0.994	D;D;D	0.78314	0.97;0.991;0.97	T	0.79455	-0.1796	10	0.62326	D	0.03	6.0785	11.2884	0.49234	0.9287:0.0:0.0713:0.0	.	511;463;511	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	E	511;511;511;511;463;511	ENSP00000378015:D511E;ENSP00000344668:D511E;ENSP00000410909:D511E;ENSP00000378013:D511E;ENSP00000378011:D463E	ENSP00000344668:D511E	D	-	3	2	KRIT1	91689182	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.256000	0.51492	0.975000	0.38392	0.386000	0.25728	GAT		0.368	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			3	21	0	0	0	1	0	3	21				
PTCHD4	442213	broad.mit.edu	37	6	47847369	47847369	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:47847369A>T	ENST00000339488.4	-	3	1244	c.1211T>A	c.(1210-1212)aTc>aAc	p.I404N		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	404						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ACAGCAAAAGATGCTGTGGTA	0.468																																						ENST00000339488.4																			0											c.(1210-1212)aTc>aAc		patched domain containing 4							92.0	85.0	87.0					6																	47847369		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847369A>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.1211T>A	6.37:g.47847369A>T	ENSP00000341914:p.Ile404Asn						p.I404N	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1244	-			404					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1211T>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160661	0.57368	.	.	ENSG00000244694	ENST00000339488	D	0.85861	-2.04	5.01	5.01	0.66863	.	0.117354	0.56097	D	0.000021	T	0.73644	0.3613	L	0.40543	1.245	0.80722	D	1	B	0.34015	0.435	B	0.35039	0.194	T	0.78876	-0.2031	10	0.66056	D	0.02	.	14.738	0.69430	1.0:0.0:0.0:0.0	.	404	Q6ZW05	CF138_HUMAN	N	404	ENSP00000341914:I404N	ENSP00000341914:I404N	I	-	2	0	C6orf138	47955328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.895000	0.54865	0.528000	0.53228	ATC		0.468	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		6	45	0	0	0	1	0	6	45				
WNT9B	7484	broad.mit.edu	37	17	44953961	44953961	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:44953961G>A	ENST00000290015.2	+	4	1004	c.951G>A	c.(949-951)ggG>ggA	p.G317G	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	317					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGTGCTGCGGGCGGGGCTATG	0.662																																						ENST00000290015.2																			0				large_intestine(2)|lung(8)	10						c.(949-951)ggG>ggA		wingless-type MMTV integration site family, member 9B							30.0	33.0	32.0					17																	44953961		2203	4300	6503	SO:0001819	synonymous_variant	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44953961G>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.951G>A	17.37:g.44953961G>A						WNT9B_ENST00000393461.2_Intron	p.G317G	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1004	+			317					Q6UXT4|Q96Q09	Silent	SNP	ENST00000290015.2	37	c.951G>A	CCDS11506.1																																																																																				0.662	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		81	11	0	0	0	1	0	81	11				
SLC38A5	92745	broad.mit.edu	37	X	48317963	48317963	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:48317963G>T	ENST00000376876.3	-	15	2119	c.1276C>A	c.(1276-1278)Ccc>Acc	p.P426T	SLC38A5_ENST00000376875.1_Missense_Mutation_p.P375T|SLC38A5_ENST00000317669.5_Missense_Mutation_p.P426T|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	426					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACCTCAGAGGGTACAATGCGG	0.567																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(1276-1278)Ccc>Acc		solute carrier family 38, member 5							63.0	52.0	56.0					X																	48317963		2202	4300	6502	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317963G>T	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1276C>A	X.37:g.48317963G>T	ENSP00000366073:p.Pro426Thr					SLC38A5_ENST00000317669.5_Missense_Mutation_p.P426T|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P375T|SLC38A5_ENST00000480105.1_5'UTR	p.P426T			Q8WUX1	S38A5_HUMAN			15	2119	-			426					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.1276C>A	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.655772	0.67586	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02177	4.41;4.41;4.41	5.28	5.28	0.74379	.	0.110120	0.36303	U	0.002674	T	0.13157	0.0319	M	0.87180	2.865	0.52501	D	0.999952	P	0.50819	0.939	P	0.59825	0.864	T	0.00222	-1.1904	10	0.59425	D	0.04	.	15.3095	0.74019	0.0:0.0:1.0:0.0	.	426	Q8WUX1	S38A5_HUMAN	T	426;375;426	ENSP00000366073:P426T;ENSP00000366071:P375T;ENSP00000313740:P426T	ENSP00000313740:P426T	P	-	1	0	SLC38A5	48202907	1.000000	0.71417	0.953000	0.39169	0.893000	0.52053	6.082000	0.71318	2.206000	0.71126	0.523000	0.50628	CCC		0.567	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		6	16	1	0	0.00307968	1	0.00312187	6	16				
MT-ND2	4536	broad.mit.edu	37	M	2300	2300	+	5'Flank	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrM:2300G>A	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AGAAGAACTAATGTTAGTATA	0.388																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2300G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2300G>A	Exception_encountered							NR_039705.1						0	630	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.388	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		2	0	0	0	0	1	0	2	0				
MID1	4281	broad.mit.edu	37	X	10417566	10417566	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:10417566C>T	ENST00000317552.4	-	10	2246	c.1846G>A	c.(1846-1848)Gcc>Acc	p.A616T	MID1_ENST00000380780.1_Missense_Mutation_p.A616T|MID1_ENST00000453318.2_Missense_Mutation_p.A616T|MID1_ENST00000380787.1_Missense_Mutation_p.A616T|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.A616T|MID1_ENST00000380785.1_Missense_Mutation_p.A616T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	616	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATAAAAGGCGATAGAGCCG	0.547																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1846-1848)Gcc>Acc		midline 1 (Opitz/BBB syndrome)							145.0	107.0	120.0					X																	10417566		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417566C>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1846G>A	X.37:g.10417566C>T	ENSP00000312678:p.Ala616Thr					MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.A616T|MID1_ENST00000453318.2_Missense_Mutation_p.A616T|MID1_ENST00000380779.1_Missense_Mutation_p.A616T|MID1_ENST00000380780.1_Missense_Mutation_p.A616T|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.A616T	p.A616T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			10	2246	-			616			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1846G>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	5.706	0.314801	0.10789	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.117691	0.64402	D	0.000019	T	0.41949	0.1181	N	0.17901	0.54	0.54753	D	0.99998	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.004;0.005	T	0.27262	-1.0079	10	0.21540	T	0.41	.	13.5002	0.61449	0.1559:0.8441:0.0:0.0	.	616;616;566	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	T	616;616;616;616;616;616;566	ENSP00000414521:A616T;ENSP00000312678:A616T;ENSP00000370162:A616T;ENSP00000370156:A616T;ENSP00000370164:A616T;ENSP00000370157:A616T	ENSP00000312678:A616T	A	-	1	0	MID1	10377566	1.000000	0.71417	0.296000	0.24974	0.226000	0.24999	4.468000	0.60162	2.322000	0.78497	0.422000	0.28245	GCC		0.547	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			94	88	0	0	0	1	0	94	88				
NFKBIL1	4795	broad.mit.edu	37	6	31526160	31526160	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:31526160G>A	ENST00000376148.4	+	4	1032	c.918G>A	c.(916-918)ggG>ggA	p.G306G	NFKBIL1_ENST00000376145.4_Silent_p.G291G	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	306					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCTGCCCTGGGGGAGGGGACC	0.697																																						ENST00000376148.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(916-918)ggG>ggA		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1							4.0	4.0	4.0					6																	31526160		1413	2545	3958	SO:0001819	synonymous_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31526160G>A	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.918G>A	6.37:g.31526160G>A						NFKBIL1_ENST00000376145.4_Silent_p.G291G	p.G306G	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN			4	1032	+			306					A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Silent	SNP	ENST00000376148.4	37	c.918G>A	CCDS4700.1																																																																																				0.697	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		4	6	0	0	0	1	0	4	6				
LPA	4018	broad.mit.edu	37	6	160977179	160977179	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:160977179G>A	ENST00000316300.5	-	30	4895	c.4851C>T	c.(4849-4851)taC>taT	p.Y1617Y	LPA_ENST00000447678.1_Silent_p.Y1617Y			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4125	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATTACCATGGTAGCACTGCC	0.468																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4849-4851)taC>taT		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						131.0	134.0	133.0					6																	160977179		2179	4299	6478	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160977179G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4851C>T	6.37:g.160977179G>A						LPA_ENST00000316300.5_Silent_p.Y1617Y	p.Y1617Y	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	31	4971	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4125			Kringle 15.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4851C>T	CCDS43523.1																																																																																				0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		36	77	0	0	0	1	0	36	77				
SALL3	27164	broad.mit.edu	37	18	76752234	76752234	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr18:76752234C>G	ENST00000537592.2	+	2	243	c.243C>G	c.(241-243)atC>atG	p.I81M	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000575389.2_Missense_Mutation_p.I81M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	81					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGTGCTGATCGTGCACGAGG	0.711																																						ENST00000575389.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(241-243)atC>atG		spalt-like transcription factor 3							26.0	28.0	27.0					18																	76752234		2196	4300	6496	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752234C>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.243C>G	18.37:g.76752234C>G	ENSP00000441823:p.Ile81Met					SALL3_ENST00000537592.2_Missense_Mutation_p.I81M|SALL3_ENST00000536229.3_5'UTR	p.I81M			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	243	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	81					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.243C>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851494	0.17034	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.50277	0.75	4.63	2.77	0.32553	.	0.000000	0.56097	D	0.000039	T	0.65698	0.2716	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66396	-0.5934	10	0.87932	D	0	-44.8474	5.3133	0.15843	0.1653:0.5977:0.0:0.237	.	81	Q9BXA9	SALL3_HUMAN	M	81	ENSP00000441823:I81M	ENSP00000299466:I81M	I	+	3	3	SALL3	74853222	0.674000	0.27549	0.999000	0.59377	0.185000	0.23345	-0.181000	0.09740	1.069000	0.40788	0.561000	0.74099	ATC		0.711	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		5	25	0	0	0	1	0	5	25				
OR2T3	343173	broad.mit.edu	37	1	248637452	248637452	+	Silent	SNP	G	G	A	rs370677701		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:248637452G>A	ENST00000359594.2	+	1	826	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATGCTCCCGAGTTCCTACC	0.547																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(799-801)ccG>ccA		olfactory receptor, family 2, subfamily T, member 3		G		1,4405		0,1,2202	367.0	345.0	352.0		801	-2.4	0.0	1		352	0,8600		0,0,4300	no	coding-synonymous	OR2T3	NM_001005495.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		267/319	248637452	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637452G>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.801G>A	1.37:g.248637452G>A							p.P267P	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	826	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		267					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.801G>A	CCDS31117.1																																																																																				0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		50	318	0	0	0	1	0	50	318				
FOXA2	3170	broad.mit.edu	37	20	22563665	22563665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr20:22563665G>T	ENST00000377115.4	-	3	378	c.197C>A	c.(196-198)tCg>tAg	p.S66*	FOXA2_ENST00000419308.2_Nonsense_Mutation_p.S72*	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	66	Transactivation domain 1. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CACGTACGACGACATGTTCAT	0.731																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(196-198)tCg>tAg		forkhead box A2							43.0	45.0	44.0					20																	22563665		2203	4298	6501	SO:0001587	stop_gained	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563665G>T	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.197C>A	20.37:g.22563665G>T	ENSP00000366319:p.Ser66*					FOXA2_ENST00000319993.4_Nonsense_Mutation_p.S72*|FOXA2_ENST00000377115.4_Nonsense_Mutation_p.S66*	p.S66*	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	399	-	Lung NSC(19;0.188)		66			Transactivation domain 1 (By similarity).		Q8WUW4|Q96DF7	Nonsense_Mutation	SNP	ENST00000377115.4	37	c.197C>A	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118327	0.94385	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	.	.	.	4.42	3.39	0.38822	.	0.226619	0.19577	U	0.110958	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4755	0.38869	0.0:0.2167:0.7833:0.0	.	.	.	.	X	66;66;72	.	ENSP00000315955:S72X	S	-	2	0	FOXA2	22511665	1.000000	0.71417	0.944000	0.38274	0.872000	0.50106	7.379000	0.79691	1.995000	0.58328	0.467000	0.42956	TCG		0.731	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			62	41	1	0	1.1362e-29	1	1.27392e-29	62	41				
DNAH2	146754	broad.mit.edu	37	17	7689631	7689631	+	Missense_Mutation	SNP	G	G	A	rs139080127		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:7689631G>A	ENST00000572933.1	+	40	7779	c.6319G>A	c.(6319-6321)Gcc>Acc	p.A2107T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2107T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2107	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTGTGCCGCGCCGGAGACCC	0.597																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6319-6321)Gcc>Acc		dynein, axonemal, heavy chain 2		G	THR/ALA	0,4406		0,0,2203	44.0	43.0	44.0		6319	5.2	0.6	17	dbSNP_134	44	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNAH2	NM_020877.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	2107/4428	7689631	2,13004	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7689631G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6319G>A	17.37:g.7689631G>A	ENSP00000458355:p.Ala2107Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.A2107T	p.A2107T			Q9P225	DYH2_HUMAN			40	7779	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2107			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6319G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907676	0.17833	0.0	2.33E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23754	1.89	5.21	5.21	0.72293	ATPase, dynein-related, AAA domain (1);	0.280775	0.34986	N	0.003533	T	0.12860	0.0312	N	0.08118	0	0.28660	N	0.906162	B	0.25772	0.134	B	0.22753	0.041	T	0.12630	-1.0540	10	0.23302	T	0.38	.	11.7179	0.51663	0.084:0.0:0.916:0.0	.	2107	Q9P225	DYH2_HUMAN	T	2107	ENSP00000373825:A2107T	ENSP00000353818:A2107T	A	+	1	0	DNAH2	7630356	0.107000	0.21998	0.630000	0.29268	0.618000	0.37518	2.305000	0.43664	2.710000	0.92621	0.650000	0.86243	GCC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		15	48	0	0	0	1	0	15	48				
MSH6	2956	broad.mit.edu	37	2	48018140	48018140	+	Missense_Mutation	SNP	A	A	G	rs587779934		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:48018140A>G	ENST00000234420.5	+	2	487	c.335A>G	c.(334-336)aAc>aGc	p.N112S	MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	112	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGTTTACAACCACCCCTTT	0.473			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(334-336)aAc>aGc	Mismatch excision repair (MMR)	mutS homolog 6							118.0	111.0	113.0					2																	48018140		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48018140A>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.335A>G	2.37:g.48018140A>G	ENSP00000234420:p.Asn112Ser					MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	p.N112S	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	487	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	112			PWWP.		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.335A>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457846	0.63401	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.77	5.77	0.91146	PWWP (3);	0.103829	0.64402	D	0.000003	T	0.51822	0.1697	L	0.28192	0.835	0.80722	D	1	B;P	0.40909	0.41;0.732	B;B	0.35413	0.101;0.202	T	0.51513	-0.8696	10	0.20519	T	0.43	-23.6148	16.0985	0.81148	1.0:0.0:0.0:0.0	.	112;112	P52701;P52701-2	MSH6_HUMAN;.	S	112;110;112;13;13;13	ENSP00000234420:N112S;ENSP00000397484:N13S;ENSP00000390382:N13S;ENSP00000406248:N13S	ENSP00000234420:N112S	N	+	2	0	MSH6	47871644	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.657000	0.74402	2.197000	0.70478	0.455000	0.32223	AAC		0.473	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		60	90	0	0	0	1	0	60	90				
FCN1	2219	broad.mit.edu	37	9	137808192	137808192	+	Splice_Site	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr9:137808192A>G	ENST00000371806.3	-	2	309		c.e2+1			NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1						cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCCCGCACCTACCTCTCTCTC	0.657																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.e2+1		ficolin (collagen/fibrinogen domain containing) 1							83.0	99.0	94.0					9																	137808192		2203	4299	6502	SO:0001630	splice_region_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137808192A>G	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.217+1T>C	9.37:g.137808192A>G								NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	2	309	-		Myeloproliferative disorder(178;0.0333)						Q5VYV5|Q92596	Splice_Site	SNP	ENST00000371806.3	37		CCDS6985.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574844	0.28092	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3888	0.38361	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCN1	136948013	0.991000	0.36638	0.304000	0.25085	0.012000	0.07955	3.312000	0.51927	1.773000	0.52216	0.519000	0.50382	.		0.657	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	Intron	17	238	0	0	0	1	0	17	238				
AMER1	139285	broad.mit.edu	37	X	63410192	63410192	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:63410192G>A	ENST00000330258.3	-	2	3247	c.2975C>T	c.(2974-2976)gCa>gTa	p.A992V	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	992	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCAACAGGTTGCCTGCCTATA	0.572																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2974-2976)gCa>gTa		APC membrane recruitment protein 1							42.0	44.0	44.0					X																	63410192		2056	4174	6230	SO:0001583	missense	139285							g.chrX:63410192G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2975C>T	X.37:g.63410192G>A	ENSP00000329117:p.Ala992Val					AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	p.A992V	NM_152424.3	NP_689637.3					2	3247	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2975C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	8.578	0.881705	0.17467	.	.	ENSG00000184675	ENST00000330258	T	0.51817	0.69	5.04	3.23	0.37069	.	.	.	.	.	T	0.27900	0.0687	N	0.19112	0.55	0.51767	D	0.999935	B	0.22800	0.075	B	0.16722	0.016	T	0.04537	-1.0944	8	.	.	.	1.8099	7.3786	0.26843	0.0936:0.1646:0.7418:0.0	.	992	Q5JTC6	F123B_HUMAN	V	992	ENSP00000329117:A992V	.	A	-	2	0	FAM123B	63326917	0.475000	0.25894	0.021000	0.16686	0.056000	0.15407	1.457000	0.35212	0.618000	0.30179	0.529000	0.55759	GCA		0.572	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		10	38	0	0	0	1	0	10	38				
CEP135	9662	broad.mit.edu	37	4	56847395	56847395	+	Silent	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:56847395T>C	ENST00000257287.4	+	13	1753	c.1629T>C	c.(1627-1629)gcT>gcC	p.A543A		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	543					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCTTTAAGGCTCAGGAAGAAT	0.318																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(1627-1629)gcT>gcC		centrosomal protein 135kDa							74.0	77.0	76.0					4																	56847395		2202	4299	6501	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56847395T>C	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1629T>C	4.37:g.56847395T>C							p.A543A	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			13	1753	+	Glioma(25;0.08)|all_neural(26;0.101)		543					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.1629T>C	CCDS33986.1																																																																																				0.318	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		23	30	0	0	0	1	0	23	30				
DSP	1832	broad.mit.edu	37	6	7585589	7585589	+	Silent	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:7585589C>T	ENST00000379802.3	+	24	8435	c.8094C>T	c.(8092-8094)ttC>ttT	p.F2698F	DSP_ENST00000418664.2_Silent_p.F2099F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2698	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				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)		TCATAGGCTTCGAGGGTGTGA	0.557																																						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.(8092-8094)ttC>ttT		desmoplakin							120.0	123.0	122.0					6																	7585589		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585589C>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.8094C>T	6.37:g.7585589C>T						DSP_ENST00000418664.2_Silent_p.F2099F	p.F2698F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8435	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2698			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.8094C>T	CCDS4501.1																																																																																				0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		65	243	0	0	0	1	0	65	243				
LRIF1	55791	broad.mit.edu	37	1	111490764	111490764	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:111490764A>T	ENST00000369763.4	-	4	2517	c.2127T>A	c.(2125-2127)aaT>aaA	p.N709K	LRIF1_ENST00000485275.2_Missense_Mutation_p.N173K|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Missense_Mutation_p.N173K	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	709					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTGCATTTGAATTCAAAGTGC	0.378																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(2125-2127)aaT>aaA		ligand dependent nuclear receptor interacting factor 1							157.0	156.0	156.0					1																	111490764		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490764A>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2127T>A	1.37:g.111490764A>T	ENSP00000358778:p.Asn709Lys					LRIF1_ENST00000494675.1_Missense_Mutation_p.N173K|LRIF1_ENST00000485275.2_Missense_Mutation_p.N173K|RP11-96K19.2_ENST00000440689.1_RNA	p.N709K	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			4	2517	-			709					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.2127T>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	A	6.829	0.522083	0.13005	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.29917	1.97;1.55;1.55	5.71	4.58	0.56647	.	0.549745	0.18544	N	0.138114	T	0.09992	0.0245	L	0.36672	1.1	0.09310	N	1	B;B	0.29037	0.231;0.034	B;B	0.25291	0.059;0.025	T	0.13575	-1.0504	10	0.56958	D	0.05	0.0016	8.482	0.33049	0.9122:0.0:0.0878:0.0	.	173;709	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	K	709;173;173	ENSP00000358778:N709K;ENSP00000435259:N173K;ENSP00000432290:N173K	ENSP00000358778:N709K	N	-	3	2	LRIF1	111292287	0.005000	0.15991	0.016000	0.15963	0.122000	0.20287	0.582000	0.23834	1.001000	0.39076	0.482000	0.46254	AAT		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		35	103	0	0	0	1	0	35	103				
IGSF10	285313	broad.mit.edu	37	3	151166217	151166217	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr3:151166217T>C	ENST00000282466.3	-	4	1551	c.1552A>G	c.(1552-1554)Aga>Gga	p.R518G		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	518	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAAGGGGCTCTCACTTTACTT	0.498																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1552-1554)Aga>Gga		immunoglobulin superfamily, member 10							164.0	165.0	164.0					3																	151166217		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166217T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1552A>G	3.37:g.151166217T>C	ENSP00000282466:p.Arg518Gly						p.R518G	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1551	-			518			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1552A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293125	0.60086	.	.	ENSG00000152580	ENST00000282466	T	0.68331	-0.32	4.76	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126939	0.35179	N	0.003396	T	0.70622	0.3245	L	0.37750	1.13	0.40455	D	0.980182	D	0.89917	1.0	D	0.79108	0.992	T	0.66968	-0.5789	10	0.19590	T	0.45	.	11.5662	0.50807	0.0:0.0:0.1489:0.851	.	518	Q6WRI0	IGS10_HUMAN	G	518	ENSP00000282466:R518G	ENSP00000282466:R518G	R	-	1	2	IGSF10	152648907	0.980000	0.34600	1.000000	0.80357	0.990000	0.78478	1.921000	0.40035	1.789000	0.52484	0.454000	0.30748	AGA		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		52	247	0	0	0	1	0	52	247				
ABCB7	22	broad.mit.edu	37	X	74334628	74334628	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:74334628C>A	ENST00000373394.3	-	2	214	c.207G>T	c.(205-207)ttG>ttT	p.L69F	ABCB7_ENST00000253577.3_Missense_Mutation_p.L70F|ABCB7_ENST00000339447.4_Missense_Mutation_p.L69F			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	69					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGCCTTTTCCCAATCTCTGCC	0.378																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(208-210)ttG>ttT		ATP-binding cassette, sub-family B (MDR/TAP), member 7							149.0	116.0	127.0					X																	74334628		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74334628C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.207G>T	X.37:g.74334628C>A	ENSP00000362492:p.Leu69Phe					ABCB7_ENST00000373394.3_Missense_Mutation_p.L69F|ABCB7_ENST00000339447.4_Missense_Mutation_p.L69F	p.L70F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			2	234	-			69					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.210G>T		.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095442	0.07010	.	.	ENSG00000131269	ENST00000253577;ENST00000339447;ENST00000373394;ENST00000526404	D;D;D	0.88431	-2.34;-2.38;-2.34	5.24	-0.0882	0.13674	.	0.936623	0.09014	N	0.861073	T	0.74007	0.3660	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.57341	-0.7828	10	0.09590	T	0.72	0.1528	4.4662	0.11691	0.1631:0.4476:0.0:0.3893	.	69;70;69;70	G3XAC4;B3KM98;O75027;O75027-2	.;.;ABCB7_HUMAN;.	F	70;69;69;82	ENSP00000253577:L70F;ENSP00000343849:L69F;ENSP00000362492:L69F	ENSP00000253577:L70F	L	-	3	2	ABCB7	74251353	0.015000	0.18098	0.288000	0.24862	0.230000	0.25150	-0.265000	0.08644	-0.044000	0.13491	0.284000	0.19432	TTG		0.378	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		5	21	1	0	1.23904e-05	1	1.29139e-05	5	21				
FANCM	57697	broad.mit.edu	37	14	45623210	45623210	+	Silent	SNP	A	A	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr14:45623210A>C	ENST00000267430.5	+	6	1223	c.1138A>C	c.(1138-1140)Aga>Cga	p.R380R	FANCM_ENST00000542564.2_Silent_p.R354R|FANCM_ENST00000556036.1_Silent_p.R380R	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	380					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATGGGAATGAGATCATTATA	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1138-1140)Aga>Cga	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							132.0	134.0	133.0					14																	45623210		2203	4299	6502	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45623210A>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1138A>C	14.37:g.45623210A>C						FANCM_ENST00000542564.2_Silent_p.R354R|FANCM_ENST00000556036.1_Silent_p.R380R	p.R380R	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			6	1223	+			380					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.1138A>C	CCDS32070.1																																																																																				0.294	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		49	11	0	0	0	1	0	49	11				
SETD1A	9739	broad.mit.edu	37	16	30977316	30977316	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:30977316G>A	ENST00000262519.8	+	8	2800	c.2114G>A	c.(2113-2115)gGc>gAc	p.G705D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGT	0.642																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2113-2115)gGc>gAc		SET domain containing 1A							47.0	52.0	50.0					16																	30977316		2196	4299	6495	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977316G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2114G>A	16.37:g.30977316G>A	ENSP00000262519:p.Gly705Asp						p.G705D	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	2800	+			705					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.2114G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435103	0.12045	.	.	ENSG00000099381	ENST00000262519	D	0.94457	-3.43	4.67	2.51	0.30379	.	0.437645	0.22169	N	0.063666	D	0.92645	0.7663	L	0.29908	0.895	0.31168	N	0.703602	D	0.56746	0.977	P	0.55785	0.784	D	0.90643	0.4576	10	0.51188	T	0.08	.	10.3002	0.43648	0.0:0.4266:0.5734:0.0	.	705	O15047	SET1A_HUMAN	D	705	ENSP00000262519:G705D	ENSP00000262519:G705D	G	+	2	0	SETD1A	30884817	0.179000	0.23135	0.613000	0.29037	0.509000	0.34042	1.434000	0.34958	1.129000	0.42072	0.655000	0.94253	GGC		0.642	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		40	134	0	0	0	1	0	40	134				
IRX6	79190	broad.mit.edu	37	16	55362678	55362678	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:55362678A>G	ENST00000290552.7	+	5	2120	c.788A>G	c.(787-789)gAg>gGg	p.E263G	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	263					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						gaggaagaggaggaggaggag	0.627																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(787-789)gAg>gGg		iroquois homeobox 6							33.0	39.0	37.0					16																	55362678		2195	4293	6488	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362678A>G	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.788A>G	16.37:g.55362678A>G	ENSP00000290552:p.Glu263Gly					RP11-26L20.3_ENST00000558730.2_RNA	p.E263G	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2120	+			263					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.788A>G	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049804	0.75846	.	.	ENSG00000159387	ENST00000290552	D	0.90732	-2.72	4.62	4.62	0.57501	.	0.062950	0.64402	D	0.000007	D	0.85431	0.5695	L	0.27053	0.805	0.39232	D	0.963703	P	0.48162	0.906	B	0.44224	0.444	D	0.87532	0.2453	10	0.66056	D	0.02	-10.5108	11.5527	0.50729	1.0:0.0:0.0:0.0	.	263	P78412	IRX6_HUMAN	G	263	ENSP00000290552:E263G	ENSP00000290552:E263G	E	+	2	0	IRX6	53920179	0.840000	0.29493	0.992000	0.48379	0.981000	0.71138	0.005000	0.13129	1.729000	0.51567	0.379000	0.24179	GAG		0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		29	35	0	0	0	1	0	29	35				
ZFC3H1	196441	broad.mit.edu	37	12	72030371	72030371	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:72030371T>A	ENST00000378743.3	-	9	2357	c.1999A>T	c.(1999-2001)Aga>Tga	p.R667*	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	667					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGATTGCTTCTTGGCACAGGA	0.418																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1999-2001)Aga>Tga		zinc finger, C3H1-type containing							166.0	154.0	158.0					12																	72030371		1887	4120	6007	SO:0001587	stop_gained	196441				RNA processing	intracellular	metal ion binding	g.chr12:72030371T>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1999A>T	12.37:g.72030371T>A	ENSP00000368017:p.Arg667*						p.R667*	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			9	2357	-			667					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	c.1999A>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	41	8.633547	0.98892	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9866	0.71353	0.0:0.0:0.0:1.0	.	.	.	.	X	667	.	ENSP00000368017:R667X	R	-	1	2	ZFC3H1	70316638	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.444000	0.73452	1.943000	0.56356	0.383000	0.25322	AGA		0.418	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		16	82	0	0	0	1	0	16	82				
MTCH2	23788	broad.mit.edu	37	11	47652148	47652148	+	Missense_Mutation	SNP	T	T	C	rs202047197	byFrequency	TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:47652148T>C	ENST00000302503.3	-	8	655	c.498A>G	c.(496-498)atA>atG	p.I166M	MTCH2_ENST00000534074.1_5'Flank|MTCH2_ENST00000542981.1_Missense_Mutation_p.I18M	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	166					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AGATGGTTATTATGGAATCAC	0.328													T|||	2	0.000399361	0.0	0.0	5008	,	,		18218	0.0		0.0	False		,,,				2504	0.002					ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(496-498)atA>atG		mitochondrial carrier 2							116.0	109.0	112.0					11																	47652148		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47652148T>C	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.498A>G	11.37:g.47652148T>C	ENSP00000303222:p.Ile166Met					MTCH2_ENST00000542981.1_Missense_Mutation_p.I18M	p.I166M	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			8	655	-			166					B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.498A>G	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.068954	0.55539	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428;ENST00000530558	T;T;T	0.81078	-1.45;-1.45;-1.45	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.091329	0.64402	D	0.000001	T	0.80889	0.4710	L	0.56124	1.755	0.46317	D	0.998988	P	0.36837	0.571	P	0.46208	0.507	T	0.81525	-0.0893	10	0.59425	D	0.04	.	9.1913	0.37200	0.1617:0.0:0.0:0.8383	.	166	Q9Y6C9	MTCH2_HUMAN	M	166;18;157;145	ENSP00000303222:I166M;ENSP00000439013:I18M;ENSP00000432043:I157M	ENSP00000303222:I166M	I	-	3	3	MTCH2	47608724	0.682000	0.27624	1.000000	0.80357	0.969000	0.65631	0.269000	0.18589	2.215000	0.71742	0.482000	0.46254	ATA		0.328	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		3	61	0	0	0	1	0	3	61				
ACTN2	88	broad.mit.edu	37	1	236906280	236906280	+	Missense_Mutation	SNP	C	C	T	rs148189507		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:236906280C>T	ENST00000366578.4	+	11	1358	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	ACTN2_ENST00000542672.1_Missense_Mutation_p.R398C|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	398					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGACTGGAGCGCTTGGAACA	0.522																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1192-1194)Cgc>Tgc		actinin, alpha 2		C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	117.0	110.0	112.0		1192	5.5	1.0	1	dbSNP_134	112	0,8600		0,0,4300	no	missense	ACTN2	NM_001103.2	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	398/895	236906280	3,13003	2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236906280C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1192C>T	1.37:g.236906280C>T	ENSP00000355537:p.Arg398Cys					ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R398C	p.R398C	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		11	1358	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	398					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1192C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097115	0.76870	6.81E-4	0.0	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.53640	0.61;0.61	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.923;0.999;0.985	T	0.79685	-0.1700	10	0.87932	D	0	.	13.6984	0.62593	0.2557:0.7443:0.0:0.0	.	183;398;168;398	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	C	398;398;167	ENSP00000443495:R398C;ENSP00000355537:R398C	ENSP00000355537:R398C	R	+	1	0	ACTN2	234972903	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	3.146000	0.50631	2.721000	0.93114	0.655000	0.94253	CGC		0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		31	57	0	0	0	1	0	31	57				
DSCAM	1826	broad.mit.edu	37	21	41648105	41648105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr21:41648105C>A	ENST00000400454.1	-	11	2752	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	759	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCACTGTCTTCCTCCACGACA	0.517																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2275-2277)Gaa>Taa		Down syndrome cell adhesion molecule							82.0	87.0	85.0					21																	41648105		2055	4243	6298	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41648105C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2275G>T	21.37:g.41648105C>A	ENSP00000383303:p.Glu759*						p.E759*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			11	2752	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	759			Ig-like C2-type 8.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.2275G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	40	8.411179	0.98799	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.78	5.78	0.91487	.	0.055949	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	759;511	.	ENSP00000383303:E759X	E	-	1	0	DSCAM	40569975	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	7.726000	0.84824	2.729000	0.93468	0.650000	0.86243	GAA		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		23	23	1	0	6.44725e-10	1	6.81567e-10	23	23				
ZNF662	389114	broad.mit.edu	37	3	42956577	42956577	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr3:42956577G>A	ENST00000541208.1	+	5	1381	c.1012G>A	c.(1012-1014)Ggg>Agg	p.G338R	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.G338R|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.G364R			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TAAGGACTGTGGGAAGGGCTT	0.488																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1012-1014)Ggg>Agg		zinc finger protein 662							90.0	84.0	86.0					3																	42956577		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956577G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1012G>A	3.37:g.42956577G>A	ENSP00000446208:p.Gly338Arg					ZNF662_ENST00000328199.6_Missense_Mutation_p.G364R|ZNF662_ENST00000440367.2_Missense_Mutation_p.G338R|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron	p.G338R			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1381	+			338					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1012G>A	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388339	0.42308	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.58506	0.33;0.33;0.33	2.79	1.9	0.25705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69593	0.3128	M	0.84433	2.695	0.27909	N	0.938696	D;D	0.76494	0.999;0.999	P;P	0.56612	0.701;0.802	T	0.60722	-0.7207	9	0.51188	T	0.08	.	7.5985	0.28063	0.1352:0.0:0.8648:0.0	.	364;338	F8W7S8;Q6ZS27	.;ZN662_HUMAN	R	338;364;338	ENSP00000405047:G338R;ENSP00000329264:G364R;ENSP00000446208:G338R	ENSP00000329264:G364R	G	+	1	0	ZNF662	42931581	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	3.858000	0.55979	0.531000	0.28639	0.455000	0.32223	GGG		0.488	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		37	11	0	0	0	1	0	37	11				
LPHN2	23266	broad.mit.edu	37	1	82416095	82416095	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:82416095C>G	ENST00000370728.1	+	9	2066	c.1421C>G	c.(1420-1422)tCc>tGc	p.S474C	LPHN2_ENST00000394879.1_Missense_Mutation_p.S474C|LPHN2_ENST00000319517.6_Missense_Mutation_p.S474C|LPHN2_ENST00000359929.3_Missense_Mutation_p.S474C|LPHN2_ENST00000370721.1_Missense_Mutation_p.S412C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370723.1_Missense_Mutation_p.S474C|LPHN2_ENST00000335786.5_Missense_Mutation_p.S474C|LPHN2_ENST00000370730.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370715.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370725.1_Missense_Mutation_p.S474C|LPHN2_ENST00000271029.4_Missense_Mutation_p.S474C|LPHN2_ENST00000370713.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370717.2_Missense_Mutation_p.S474C			O95490	LPHN2_HUMAN	latrophilin 2	474					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCATTAGACTCCAAGGGGATA	0.428																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1420-1422)tCc>tGc		latrophilin 2							83.0	86.0	85.0					1																	82416095		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416095C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1421C>G	1.37:g.82416095C>G	ENSP00000359763:p.Ser474Cys					LPHN2_ENST00000370723.1_Missense_Mutation_p.S474C|LPHN2_ENST00000394879.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370725.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370717.2_Missense_Mutation_p.S474C|LPHN2_ENST00000370727.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370730.1_Missense_Mutation_p.S474C|LPHN2_ENST00000335786.5_Missense_Mutation_p.S474C|LPHN2_ENST00000271029.4_Missense_Mutation_p.S474C|LPHN2_ENST00000359929.3_Missense_Mutation_p.S474C|LPHN2_ENST00000370715.1_Missense_Mutation_p.S474C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.S474C|LPHN2_ENST00000370721.1_Missense_Mutation_p.S412C|LPHN2_ENST00000370713.1_Missense_Mutation_p.S474C	p.S474C			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	9	2066	+			474					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1421C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.36|10.36	1.327579|1.327579	0.24080|0.24080	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.53423	.|0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.88|5.88	4.01|4.01	0.46588|0.46588	.|.	.|0.715502	.|0.14430	.|N	.|0.320054	T|T	0.24005|0.24005	0.0581|0.0581	L|L	0.34521|0.34521	1.04|1.04	0.23724|0.23724	N|N	0.997018|0.997018	.|B;B;B	.|0.29232	.|0.131;0.208;0.238	.|B;B;B	.|0.36378	.|0.025;0.019;0.223	T|T	0.28299|0.28299	-1.0048|-1.0048	5|10	.|0.62326	.|D	.|0.03	.|.	11.6179|11.6179	0.51099|0.51099	0.0:0.808:0.1252:0.0667|0.0:0.808:0.1252:0.0667	.|.	.|474;474;474	.|O95490-3;O95490-4;O95490-2	.|.;.;.	A|C	342|412;474;474;474;474;474;474;474;474;474;474;474;474;474	.|ENSP00000359756:S412C;ENSP00000359763:S474C;ENSP00000359765:S474C;ENSP00000359762:S474C;ENSP00000359760:S474C;ENSP00000359758:S474C;ENSP00000353006:S474C;ENSP00000359750:S474C;ENSP00000359748:S474C;ENSP00000322270:S474C;ENSP00000359752:S474C;ENSP00000378344:S474C;ENSP00000271029:S474C;ENSP00000337306:S474C	.|ENSP00000271029:S474C	P|S	+|+	1|2	0|0	LPHN2|LPHN2	82188683|82188683	0.989000|0.989000	0.36119|0.36119	0.165000|0.165000	0.22776|0.22776	0.678000|0.678000	0.39670|0.39670	1.810000|1.810000	0.38932|0.38932	0.814000|0.814000	0.34374|0.34374	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		35	26	0	0	0	1	0	35	26				
SMARCC2	6601	broad.mit.edu	37	12	56563467	56563467	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:56563467T>C	ENST00000267064.4	-	24	2554	c.2468A>G	c.(2467-2469)aAg>aGg	p.K823R	SMARCC2_ENST00000550164.1_Missense_Mutation_p.K854R|SMARCC2_ENST00000394023.3_Missense_Mutation_p.K854R|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K854R|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	823	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ctccttctccttctcAGGATC	0.592																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(2560-2562)aAg>aGg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							157.0	112.0	127.0					12																	56563467		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563467T>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2468A>G	12.37:g.56563467T>C	ENSP00000267064:p.Lys823Arg					SMARCC2_ENST00000347471.4_Missense_Mutation_p.K854R|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K854R|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K823R|RP11-977G19.5_ENST00000553176.1_RNA	p.K854R	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		25	2666	-			823			Glu-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2561A>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690822	0.48097	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.51325	1.16;0.71;0.73;0.74	4.88	3.65	0.41850	.	0.369597	0.25631	N	0.029356	T	0.43433	0.1247	L	0.40543	1.245	0.30691	N	0.75135	D;D;D;D;D	0.61697	0.982;0.99;0.982;0.982;0.99	B;P;B;B;P	0.49953	0.424;0.627;0.424;0.424;0.627	T	0.46105	-0.9215	10	0.41790	T	0.15	-16.6472	8.2773	0.31879	0.0:0.0:0.2009:0.7991	.	743;854;858;823;854	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	R	854;854;854;823	ENSP00000377591:K854R;ENSP00000449396:K854R;ENSP00000302919:K854R;ENSP00000267064:K823R	ENSP00000267064:K823R	K	-	2	0	SMARCC2	54849734	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.442000	0.44873	1.985000	0.57927	0.454000	0.30748	AAG		0.592	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			22	42	0	0	0	1	0	22	42				
PAQR6	79957	broad.mit.edu	37	1	156213861	156213861	+	3'UTR	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:156213861C>T	ENST00000292291.5	-	0	1252				PAQR6_ENST00000356983.2_Missense_Mutation_p.E283K|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000540423.1_3'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.E283K	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AATCTGGGCTCCTCGTCAGCA	0.652																																					GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(847-849)Gag>Aag		progestin and adipoQ receptor family member VI							137.0	138.0	138.0					1																	156213861		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79957					integral to membrane	receptor activity	g.chr1:156213861C>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.*59G>A	1.37:g.156213861C>T						PAQR6_ENST00000540423.1_3'UTR|PAQR6_ENST00000360733.2_Missense_Mutation_p.E283K|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.E283K|PAQR6_ENST00000292291.5_3'UTR	p.E283K	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			7	1462	-	Hepatocellular(266;0.158)		290					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.847G>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522394	0.64747	.	.	ENSG00000160781	ENST00000360733;ENST00000335852;ENST00000356983	T;T;T	0.38240	1.15;1.15;1.15	3.05	3.05	0.35203	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.80722	D	1	D;D;P	0.57257	0.979;0.979;0.463	P;P;B	0.50162	0.538;0.633;0.347	T	0.05818	-1.0862	9	0.87932	D	0	.	9.7123	0.40254	0.0:1.0:0.0:0.0	.	215;143;283	B4DJ42;Q7Z4Q8;Q6TCH4-2	.;.;.	K	283	ENSP00000353961:E283K;ENSP00000338330:E283K;ENSP00000349474:E283K	ENSP00000338330:E283K	E	-	1	0	PAQR6	154480485	0.008000	0.16893	0.970000	0.41538	0.350000	0.29205	0.193000	0.17116	1.721000	0.51461	0.462000	0.41574	GAG		0.652	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		88	130	0	0	0	1	0	88	130				
DOCK6	57572	broad.mit.edu	37	19	11327692	11327692	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:11327692G>A	ENST00000294618.7	-	30	3803	c.3792C>T	c.(3790-3792)acC>acT	p.T1264T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.T603T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1264					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCCGGCTCGGTGTTTTTCA	0.612																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3790-3792)acC>acT		dedicator of cytokinesis 6							36.0	39.0	38.0					19																	11327692		2107	4218	6325	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11327692G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3792C>T	19.37:g.11327692G>A						DOCK6_ENST00000319867.7_Silent_p.T603T	p.T1264T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			30	3803	-			1264					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.3792C>T	CCDS45975.1																																																																																				0.612	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		22	60	0	0	0	1	0	22	60				
FAM129A	116496	broad.mit.edu	37	1	184765126	184765126	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:184765126C>G	ENST00000367511.3	-	14	1965	c.1772G>C	c.(1771-1773)gGg>gCg	p.G591A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	591					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTGGTTTGACCCTGTGGGGGG	0.498																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1771-1773)gGg>gCg		family with sequence similarity 129, member A							61.0	67.0	65.0					1																	184765126		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184765126C>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1772G>C	1.37:g.184765126C>G	ENSP00000356481:p.Gly591Ala					FAM129A_ENST00000487074.1_5'UTR	p.G591A	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			14	1965	-			591					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1772G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035289	0.54896	.	.	ENSG00000135842	ENST00000367511	T	0.14640	2.49	5.81	5.81	0.92471	.	0.331771	0.34046	N	0.004313	T	0.31420	0.0796	L	0.60455	1.87	0.41835	D	0.990096	D	0.89917	1.0	D	0.91635	0.999	T	0.03840	-1.0999	10	0.06891	T	0.86	-15.7493	18.2631	0.90043	0.0:1.0:0.0:0.0	.	591	Q9BZQ8	NIBAN_HUMAN	A	591	ENSP00000356481:G591A	ENSP00000356481:G591A	G	-	2	0	FAM129A	183031749	0.996000	0.38824	0.985000	0.45067	0.302000	0.27658	3.968000	0.56809	2.746000	0.94184	0.655000	0.94253	GGG		0.498	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			72	78	0	0	0	1	0	72	78				
KLHDC7B	113730	broad.mit.edu	37	22	50988123	50988123	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr22:50988123C>T	ENST00000395676.2	+	1	1662	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	510										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCGTGATGCGCTACAACAC	0.692																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1528-1530)Cgc>Tgc		kelch domain containing 7B							29.0	33.0	32.0					22																	50988123		2199	4287	6486	SO:0001583	missense	113730							g.chr22:50988123C>T	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1528C>T	22.37:g.50988123C>T	ENSP00000379034:p.Arg510Cys						p.R510C	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1662	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	510						Missense_Mutation	SNP	ENST00000395676.2	37	c.1528C>T	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491224	0.64074	.	.	ENSG00000130487	ENST00000395676	T	0.25414	1.8	5.45	5.45	0.79879	Kelch-type beta propeller (1);	0.000000	0.42420	U	0.000708	T	0.43478	0.1249	L	0.56340	1.77	0.43555	D	0.995867	D	0.89917	1.0	D	0.80764	0.994	T	0.28490	-1.0042	10	0.62326	D	0.03	.	10.2405	0.43310	0.0:0.9101:0.0:0.0899	.	510	Q96G42	KLD7B_HUMAN	C	510	ENSP00000379034:R510C	ENSP00000379034:R510C	R	+	1	0	KLHDC7B	49334989	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.579000	0.46059	2.576000	0.86940	0.491000	0.48974	CGC		0.692	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		10	67	0	0	0	1	0	10	67				
ASPHD1	253982	broad.mit.edu	37	16	29917116	29917116	+	Silent	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:29917116C>T	ENST00000308748.5	+	3	1323	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	ASPHD1_ENST00000483405.1_Silent_p.P76P	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	357					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TAGGCTCCCCCGAAGATGGGC	0.572																																						ENST00000308748.5																			0				endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						c.(1069-1071)ccC>ccT		aspartate beta-hydroxylase domain containing 1							87.0	77.0	80.0					16																	29917116		2197	4300	6497	SO:0001819	synonymous_variant	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29917116C>T	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.1071C>T	16.37:g.29917116C>T						ASPHD1_ENST00000483405.1_Silent_p.P76P	p.P357P	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN			3	1323	+			357					A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	ENST00000308748.5	37	c.1071C>T	CCDS10660.1																																																																																				0.572	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		19	54	0	0	0	1	0	19	54				
PACS1	55690	broad.mit.edu	37	11	66002813	66002813	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:66002813G>A	ENST00000320580.4	+	18	2179	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R	PACS1_ENST00000529757.1_Missense_Mutation_p.G252R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	716					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTACGTCAACGGGGCAGCCAC	0.532																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(2146-2148)Ggg>Agg		phosphofurin acidic cluster sorting protein 1							69.0	64.0	66.0					11																	66002813		2200	4295	6495	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66002813G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2146G>A	11.37:g.66002813G>A	ENSP00000316454:p.Gly716Arg					PACS1_ENST00000529757.1_Missense_Mutation_p.G252R	p.G716R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			18	2179	+			716					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.2146G>A	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255614	0.95336	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.51325	0.71;0.71	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73026	-0.4112	10	0.87932	D	0	-28.1458	17.5073	0.87749	0.0:0.0:1.0:0.0	.	716	Q6VY07	PACS1_HUMAN	R	716;252	ENSP00000316454:G716R;ENSP00000432858:G252R	ENSP00000316454:G716R	G	+	1	0	PACS1	65759389	1.000000	0.71417	0.860000	0.33809	0.941000	0.58515	8.471000	0.90403	2.668000	0.90789	0.655000	0.94253	GGG		0.532	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		38	6	0	0	0	1	0	38	6				
SPOP	8405	broad.mit.edu	37	17	47696408	47696408	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:47696408T>C	ENST00000393328.2	-	6	780	c.415A>G	c.(415-417)Aga>Gga	p.R139G	SPOP_ENST00000347630.2_Missense_Mutation_p.R139G|SPOP_ENST00000393331.3_Missense_Mutation_p.R139G|SPOP_ENST00000503676.1_Missense_Mutation_p.R139G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.R139G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	139	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGAAAATCTCTACGGATGAAT	0.463										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(415-417)Aga>Gga		speckle-type POZ protein							113.0	115.0	114.0					17																	47696408		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696408T>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.415A>G	17.37:g.47696408T>C	ENSP00000377001:p.Arg139Gly	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.R139G|SPOP_ENST00000504102.1_Missense_Mutation_p.R139G|SPOP_ENST00000393328.2_Missense_Mutation_p.R139G|SPOP_ENST00000347630.2_Missense_Mutation_p.R139G	p.R139G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	885	-			139			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.415A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845224	0.91197	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.82823	2.61	0.80722	D	1	D	0.63880	0.993	D	0.73708	0.981	T	0.72178	-0.4369	10	0.66056	D	0.02	-10.9053	15.258	0.73599	0.0:0.0:0.0:1.0	.	139	O43791	SPOP_HUMAN	G	139;139;139;139;23;139;92;139;139;139	ENSP00000377001:R139G;ENSP00000377004:R139G;ENSP00000240327:R139G;ENSP00000425905:R139G;ENSP00000420908:R139G;ENSP00000426986:R139G;ENSP00000420960:R139G;ENSP00000426262:R139G	ENSP00000240327:R139G	R	-	1	2	SPOP	45051407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.015000	0.64035	2.261000	0.74972	0.460000	0.39030	AGA		0.463	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		132	25	0	0	0	1	0	132	25				
NHLRC2	374354	broad.mit.edu	37	10	115663478	115663478	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr10:115663478A>G	ENST00000369301.3	+	9	1899	c.1687A>G	c.(1687-1689)Act>Gct	p.T563A		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	563										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GGATTTAGAAACTAAAATGGT	0.308																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1687-1689)Act>Gct		NHL repeat containing 2							83.0	95.0	91.0					10																	115663478		2203	4298	6501	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115663478A>G	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1687A>G	10.37:g.115663478A>G	ENSP00000358307:p.Thr563Ala						p.T563A	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	9	1899	+			563					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1687A>G	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	9.935	1.215900	0.22373	.	.	ENSG00000196865	ENST00000369301	D	0.91237	-2.81	5.76	3.45	0.39498	Six-bladed beta-propeller, TolB-like (1);	0.172137	0.53938	N	0.000059	T	0.77239	0.4101	N	0.12746	0.255	0.44061	D	0.996808	B	0.13594	0.008	B	0.12156	0.007	T	0.66614	-0.5879	10	0.07482	T	0.82	-14.893	8.1587	0.31185	0.8415:0.0:0.1585:0.0	.	563	Q8NBF2	NHLC2_HUMAN	A	563	ENSP00000358307:T563A	ENSP00000358307:T563A	T	+	1	0	NHLRC2	115653468	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	3.319000	0.51983	1.121000	0.41925	0.533000	0.62120	ACT		0.308	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		82	74	0	0	0	1	0	82	74				
FAM47C	442444	broad.mit.edu	37	X	37028481	37028481	+	Silent	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:37028481C>A	ENST00000358047.3	+	1	2050	c.1998C>A	c.(1996-1998)ctC>ctA	p.L666L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	666										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCAGTCTCCCCCCGGAGC	0.637																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1996-1998)ctC>ctA		family with sequence similarity 47, member C							22.0	25.0	24.0					X																	37028481		2152	4250	6402	SO:0001819	synonymous_variant	442444							g.chrX:37028481C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1998C>A	X.37:g.37028481C>A							p.L666L	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2050	+			666					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1998C>A	CCDS35227.1																																																																																				0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	104	1	0	8.60227e-14	1	9.3613e-14	12	104				
VN1R2	317701	broad.mit.edu	37	19	53762414	53762414	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:53762414T>A	ENST00000341702.3	+	1	870	c.786T>A	c.(784-786)taT>taA	p.Y262*		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	262					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGTCAGTATATGCAGCATTGA	0.448																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(784-786)taT>taA		vomeronasal 1 receptor 2							151.0	139.0	143.0					19																	53762414		2203	4300	6503	SO:0001587	stop_gained	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762414T>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.786T>A	19.37:g.53762414T>A	ENSP00000351244:p.Tyr262*						p.Y262*	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	870	+			262					A1L411|Q8TDU4	Nonsense_Mutation	SNP	ENST00000341702.3	37	c.786T>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.111238	0.56398	.	.	ENSG00000196131	ENST00000341702	.	.	.	2.94	1.89	0.25635	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3225	0.07056	0.0:0.1296:0.2441:0.6263	.	.	.	.	X	262	.	ENSP00000351244:Y262X	Y	+	3	2	VN1R2	58454226	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.271000	0.18626	0.529000	0.28599	0.486000	0.48141	TAT		0.448	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		79	21	0	0	0	1	0	79	21				
LDHD	197257	broad.mit.edu	37	16	75149480	75149480	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:75149480G>C	ENST00000450168.2	-	2	201	c.151C>G	c.(151-153)Cga>Gga	p.R51G	LDHD_ENST00000300051.4_Missense_Mutation_p.R51G	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TGCTGCTCTCGGACCACCGCG	0.652																																						ENST00000300051.4																			0				endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						c.(151-153)Cga>Gga		lactate dehydrogenase D							26.0	31.0	29.0					16																	75149480		2196	4299	6495	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75149480G>C	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.151C>G	16.37:g.75149480G>C	ENSP00000417011:p.Arg51Gly					LDHD_ENST00000450168.2_Missense_Mutation_p.R51G	p.R51G	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN			2	197	-			51						Missense_Mutation	SNP	ENST00000450168.2	37	c.151C>G	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170794	0.57584	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	T;T	0.47528	0.84;0.84	5.06	3.01	0.34805	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (1);	0.199396	0.41938	D	0.000798	T	0.62183	0.2407	M	0.74546	2.27	0.49389	D	0.999784	D;D	0.61080	0.989;0.968	P;P	0.57283	0.817;0.762	T	0.66650	-0.5870	10	0.87932	D	0	-2.9447	13.452	0.61176	0.0:0.0:0.7069:0.2931	.	51;51	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	G	51	ENSP00000417011:R51G;ENSP00000300051:R51G	ENSP00000300051:R51G	R	-	1	2	LDHD	73706981	0.995000	0.38212	0.053000	0.19242	0.458000	0.32498	1.254000	0.32897	0.484000	0.27630	0.561000	0.74099	CGA		0.652	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		7	34	0	0	0	1	0	7	34				
THSD7A	221981	broad.mit.edu	37	7	11676068	11676068	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:11676068C>G	ENST00000423059.4	-	2	962	c.711G>C	c.(709-711)gaG>gaC	p.E237D	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	237	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACCTGGAACTCCGTCAGGT	0.657										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(709-711)gaG>gaC		thrombospondin, type I, domain containing 7A							35.0	35.0	35.0					7																	11676068		2061	4208	6269	SO:0001583	missense	221981					integral to membrane		g.chr7:11676068C>G		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.711G>C	7.37:g.11676068C>G	ENSP00000406482:p.Glu237Asp	HNSCC(18;0.044)					p.E237D	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	962	-			237			TSP type-1 2.			Missense_Mutation	SNP	ENST00000423059.4	37	c.711G>C	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202235	0.22121	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.22539	1.95	5.62	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.45352	1.415	0.51482	D	0.999924	B	0.27823	0.19	B	0.34385	0.181	T	0.08391	-1.0724	10	0.32370	T	0.25	.	4.19	0.10416	0.1536:0.5363:0.0:0.3102	.	237	Q9UPZ6	THS7A_HUMAN	D	237	ENSP00000406482:E237D	ENSP00000262042:E237D	E	-	3	2	THSD7A	11642593	0.856000	0.29760	0.999000	0.59377	0.237000	0.25408	0.007000	0.13174	0.848000	0.35191	-0.237000	0.12165	GAG		0.657	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		13	16	0	0	0	1	0	13	16				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	4	0	0	0	1	0	4	4				
PKN2	5586	broad.mit.edu	37	1	89279373	89279373	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:89279373A>G	ENST00000370521.3	+	16	2595	c.2236A>G	c.(2236-2238)Atg>Gtg	p.M746V	PKN2_ENST00000544045.1_Missense_Mutation_p.M420V|PKN2_ENST00000370505.3_Missense_Mutation_p.M589V|PKN2_ENST00000370513.5_Missense_Mutation_p.M698V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGGGGACCTAATGATGCACAT	0.403																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(2236-2238)Atg>Gtg		protein kinase N2							222.0	203.0	209.0					1																	89279373		1923	4149	6072	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89279373A>G	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2236A>G	1.37:g.89279373A>G	ENSP00000359552:p.Met746Val					PKN2_ENST00000544045.1_Missense_Mutation_p.M420V|PKN2_ENST00000370505.3_Missense_Mutation_p.M589V|PKN2_ENST00000370513.5_Missense_Mutation_p.M698V	p.M746V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	16	2595	+		Lung NSC(277;0.123)	746			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2236A>G	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904428	0.52333	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	U	0.000042	T	0.39172	0.1068	N	0.25201	0.72	0.58432	D	0.999999	B;B;B	0.26547	0.152;0.077;0.079	B;B;B	0.30646	0.118;0.033;0.027	T	0.49341	-0.8950	10	0.87932	D	0	.	15.4365	0.75152	1.0:0.0:0.0:0.0	.	730;698;746	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	V	746;589;698;420	ENSP00000359552:M746V;ENSP00000359536:M589V;ENSP00000359544:M698V;ENSP00000439643:M420V	ENSP00000359536:M589V	M	+	1	0	PKN2	89051961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.068000	0.61886	0.528000	0.53228	ATG		0.403	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		39	103	0	0	0	1	0	39	103				
SLCO1B3	28234	broad.mit.edu	37	12	21032378	21032378	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:21032378A>C	ENST00000381545.3	+	11	1363	c.1144A>C	c.(1144-1146)Acc>Ccc	p.T382P	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T382P|LST3_ENST00000540229.1_Missense_Mutation_p.T382P|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T382P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	382					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AGGAATCATAACCATTCCTAC	0.269																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1144-1146)Acc>Ccc		solute carrier organic anion transporter family, member 1B3							48.0	51.0	50.0					12																	21032378		2203	4298	6501	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21032378A>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1144A>C	12.37:g.21032378A>C	ENSP00000370956:p.Thr382Pro					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T382P|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T382P|LST3_ENST00000540229.1_Missense_Mutation_p.T382P|LST3_ENST00000381541.3_Intron	p.T382P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			11	1363	+	Esophageal squamous(101;0.149)		382					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1144A>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.15	1.554517	0.27739	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.80994	0.31;0.31;0.31;-1.44;0.31	3.49	-0.496	0.12027	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.373225	0.28161	N	0.016373	T	0.81278	0.4789	M	0.76838	2.35	0.09310	N	1	D;P;P	0.55800	0.973;0.907;0.907	P;P;P	0.54815	0.761;0.637;0.637	T	0.70916	-0.4742	10	0.44086	T	0.13	.	2.7538	0.05288	0.4767:0.0:0.2009:0.3224	.	382;382;382	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	P	382;382;382;206;382	ENSP00000261196:T382P;ENSP00000370956:T382P;ENSP00000451758:T382P;ENSP00000443225:T206P;ENSP00000441269:T382P	ENSP00000441269:T382P	T	+	1	0	SLCO1B3;RP11-545J16.1	20923645	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	0.218000	0.17622	-0.306000	0.08818	0.254000	0.18369	ACC		0.269	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		6	46	0	0	0	1	0	6	46				
POTEA	340441	broad.mit.edu	37	8	43157250	43157250	+	RNA	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr8:43157250G>A	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTCATCATAGTATGTAAGTG	0.289																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							84.0	83.0	84.0					8																	43157250		1984	4181	6165			340441							g.chr8:43157250G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43157250G>A										Q6S8J7	POTEA_HUMAN			0	697	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.289	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		3	31	0	0	0	1	0	3	31				
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4																			2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A							p.R122R	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		3	18	0	0	0	1	0	3	18				
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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"""		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	CM034930	TP53	M		c.(712-714)tGt>tAt	Other conserved DNA damage response genes	tumor protein p53							132.0	103.0	113.0					17																	7577568		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.chr17:7577568C>T	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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	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_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y	p.C238Y	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)	7	845	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|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.713G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		74	11	0	0	0	1	0	74	11				
TTN	7273	broad.mit.edu	37	2	179449409	179449409	+	Silent	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:179449409C>A	ENST00000591111.1	-	260	60260	c.60036G>T	c.(60034-60036)gcG>gcT	p.A20012A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A12713A|TTN_ENST00000460472.2_Silent_p.A12588A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.A21653A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.A12780A|TTN_ENST00000342992.6_Silent_p.A19085A			Q8WZ42	TITIN_HUMAN	titin	20012	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A19083A(1)|p.A12588A(1)|p.A19085A(1)|p.A12780A(1)|p.A12713A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGAACTGCGCAACCATCT	0.433																																						ENST00000589042.1																			5	Substitution - coding silent(5)	p.A19083A(1)|p.A12588A(1)|p.A19085A(1)|p.A12780A(1)|p.A12713A(1)	cervix(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64957-64959)gcG>gcT		titin							173.0	169.0	170.0					2																	179449409		1883	4110	5993	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449409C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60036G>T	2.37:g.179449409C>A						TTN_ENST00000460472.2_Silent_p.A12588A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.A19085A|TTN_ENST00000342175.6_Silent_p.A12780A|TTN_ENST00000359218.5_Silent_p.A12713A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A20012A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.A21653A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		310	65183	-			20012			Fibronectin type-III 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.64959G>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		67	230	1	0	1.85257e-25	1	2.04613e-25	67	230				
FBXW7	55294	broad.mit.edu	37	4	153247303	153247303	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:153247303T>C	ENST00000281708.4	-	10	2728	c.1499A>G	c.(1498-1500)cAt>cGt	p.H500R	FBXW7_ENST00000603548.1_Missense_Mutation_p.H500R|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420R|FBXW7_ENST00000393956.3_Missense_Mutation_p.H324R|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500R|FBXW7_ENST00000296555.5_Missense_Mutation_p.H382R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	500					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCTGCAACATGACCCATCAA	0.463			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1498-1500)cAt>cGt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							158.0	148.0	151.0					4																	153247303		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247303T>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1499A>G	4.37:g.153247303T>C	ENSP00000281708:p.His500Arg					FBXW7_ENST00000393956.3_Missense_Mutation_p.H324R|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420R|FBXW7_ENST00000296555.5_Missense_Mutation_p.H382R|FBXW7_ENST00000603548.1_Missense_Mutation_p.H500R|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500R	p.H500R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2728	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	500					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1499A>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593052	0.66219	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93488	0.7922	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95672	0.8724	10	0.87932	D	0	-18.2384	16.0624	0.80847	0.0:0.0:0.0:1.0	.	324;500;382;420	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	500;382;420;324	ENSP00000281708:H500R;ENSP00000296555:H382R;ENSP00000263981:H420R;ENSP00000377528:H324R	ENSP00000263981:H420R	H	-	2	0	FBXW7	153466753	1.000000	0.71417	0.977000	0.42913	0.424000	0.31475	7.965000	0.87945	2.250000	0.74265	0.455000	0.32223	CAT		0.463	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			68	65	0	0	0	1	0	68	65				
TAF1	6872	broad.mit.edu	37	X	70607293	70607293	+	Silent	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:70607293T>C	ENST00000373790.4	+	15	2457	c.2406T>C	c.(2404-2406)caT>caC	p.H802H	TAF1_ENST00000276072.3_Silent_p.H823H|TAF1_ENST00000423759.1_Silent_p.H823H|TAF1_ENST00000449580.1_Silent_p.H802H	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	802	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCAATACGCATATTCGAGACT	0.488																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(2404-2406)caT>caC		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							94.0	83.0	87.0					X																	70607293		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70607293T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2406T>C	X.37:g.70607293T>C						TAF1_ENST00000276072.3_Silent_p.H823H|TAF1_ENST00000373790.4_Silent_p.H802H|TAF1_ENST00000423759.1_Silent_p.H823H	p.H802H			P21675	TAF1_HUMAN			15	2457	+	Renal(35;0.156)	all_lung(315;0.000321)	802					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.2406T>C	CCDS35325.1																																																																																				0.488	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		9	77	0	0	0	1	0	9	77				
ZAR1	326340	broad.mit.edu	37	4	48492843	48492843	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:48492843G>A	ENST00000327939.4	+	1	575	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	179					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						CCCGCGCACCGTCGCCGTGTA	0.761																																						ENST00000327939.4																			0				endometrium(1)|large_intestine(4)	5						c.(535-537)Gtc>Atc		zygote arrest 1							4.0	5.0	5.0					4																	48492843		1467	3149	4616	SO:0001583	missense	326340				multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	g.chr4:48492843G>A	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.535G>A	4.37:g.48492843G>A	ENSP00000329803:p.Val179Ile						p.V179I	NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN			1	575	+			179						Missense_Mutation	SNP	ENST00000327939.4	37	c.535G>A	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269719	0.40095	.	.	ENSG00000182223	ENST00000327939	.	.	.	3.55	-0.881	0.10607	.	0.316889	0.24876	U	0.034900	T	0.20618	0.0496	L	0.40543	1.245	0.25139	N	0.990512	B	0.31209	0.313	B	0.16722	0.016	T	0.07927	-1.0747	9	0.40728	T	0.16	0.4419	5.7121	0.17941	0.181:0.2999:0.519:0.0	.	179	Q86SH2	ZAR1_HUMAN	I	179	.	ENSP00000329803:V179I	V	+	1	0	ZAR1	48187600	0.358000	0.24947	0.003000	0.11579	0.005000	0.04900	0.730000	0.26043	-0.260000	0.09418	-0.339000	0.08088	GTC		0.761	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			9	1	0	0	0	1	0	9	1				
CEP68	23177	broad.mit.edu	37	2	65299631	65299631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:65299631delG	ENST00000377990.2	+	3	1604	c.1401delG	c.(1399-1401)gagfs	p.E467fs	CEP68_ENST00000260569.4_Frame_Shift_Del_p.E467fs|CEP68_ENST00000546106.1_Frame_Shift_Del_p.E467fs|CEP68_ENST00000537589.1_Frame_Shift_Del_p.E79fs|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	467					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTGCACAGAGTCTAGGTGGA	0.592																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1399-1401)gafs		centrosomal protein 68kDa							64.0	69.0	68.0					2																	65299631		2203	4300	6503	SO:0001589	frameshift_variant	23177				centrosome organization	centrosome		g.chr2:65299631delG	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1401delG	2.37:g.65299631delG	ENSP00000367229:p.Glu467fs					RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Frame_Shift_Del_p.E467fs|CEP68_ENST00000546106.1_Frame_Shift_Del_p.E467fs|CEP68_ENST00000537589.1_Frame_Shift_Del_p.E79fs|CEP68_ENST00000497039.1_3'UTR	p.E467fs	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	1604	+			467					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Frame_Shift_Del	DEL	ENST00000377990.2	37	c.1401delG	CCDS1880.2																																																																																				0.592	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		26	108						26	108	---	---	---	---
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458503	90458504	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:90458503_90458504insTT	ENST00000603238.1	+	2	179_180	c.179_180insTT	c.(178-183)ccagggfs	p.G61fs																								CAGCAGAAACCAGGGAAAACTC	0.495																																						ENST00000603238.1																			0											c.(178-180)cggfs																																						SO:0001589	frameshift_variant	0							g.chr2:90458503_90458504insTT																												Exception_encountered	2.37:g.90458503_90458504insTT	ENSP00000474044:p.Gly61fs						p.R60fs							2	179_180	+									Frame_Shift_Ins	INS	ENST00000603238.1	37	c.179_180insTT																																																																																					0.495	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			7	254						7	254	---	---	---	---
ZNF732	654254	broad.mit.edu	37	4	264932	264932	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:264932delA	ENST00000419098.1	-	4	1724	c.1714delT	c.(1714-1716)tacfs	p.Y572fs		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TGATTAAGGTATGAGGACCAC	0.348																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(1714-1716)acfs		zinc finger protein 732							39.0	35.0	36.0					4																	264932		692	1591	2283	SO:0001589	frameshift_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:264932delA	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1714delT	4.37:g.264932delA	ENSP00000415774:p.Tyr572fs						p.Y572fs	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	1724	-			572						Frame_Shift_Del	DEL	ENST00000419098.1	37	c.1714delT	CCDS46990.1																																																																																				0.348	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		2	4						2	4	---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																						ENST00000370455.3																			1	Deletion - Frameshift(1)	p.K145fs*48(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(505-507)gafs		small ArfGAP 1							23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71508370delA	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs					SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	p.E169fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			6	754	+			169					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	c.506delA	CCDS43478.1																																																																																				0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		2	4						2	4	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G	rs368999726		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:43591984_43591985insG	ENST00000579913.1	-	0	537_538				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTGGGTCATGCGGAGCGAGTTT	0.411																																						ENST00000253803.2																			0																																																			0							g.chr17:43591984_43591985insG	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43591986_43591986dupG						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.411	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		9	47						9	47	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73507433	73507434	+	lincRNA	INS	-	-	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:73507433_73507434insT	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		AAAATATGAGCTTTTTTTTTTC	0.411																																						ENST00000429124.1																			0																																																			0							g.chrX:73507433_73507434insT	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73507443_73507443dupT														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.411	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		3	4						3	4	---	---	---	---
