#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
CDK5R1	8851	broad.mit.edu	37	17	30815064	30815064	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:30815064C>T	ENST00000313401.3	+	2	1115	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	142					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCAAACGGGTCATCGTCCAGG	0.687																																						ENST00000313401.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(424-426)gtC>gtT		cyclin-dependent kinase 5, regulatory subunit 1 (p35)							39.0	41.0	40.0					17																	30815064		2203	4300	6503	SO:0001819	synonymous_variant	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30815064C>T	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.426C>T	17.37:g.30815064C>T							p.V142V	NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	1115	+		Breast(31;0.159)|Ovarian(249;0.182)	142					E1P664|Q5U0G3	Silent	SNP	ENST00000313401.3	37	c.426C>T	CCDS11273.1																																																																																				0.687	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		15	86	0	0	0	1	0	15	86				
IL13RA2	3598	broad.mit.edu	37	X	114251809	114251809	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:114251809G>A	ENST00000371936.1	-	3	273	c.24C>T	c.(22-24)atC>atT	p.I8I	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Silent_p.I8I			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	8				I -> V (in Ref. 4; BAF84646). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						ATAAGCATCCGATAGCCAAGC	0.323																																						ENST00000371936.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						c.(22-24)atC>atT		interleukin 13 receptor, alpha 2							95.0	85.0	89.0					X																	114251809		2203	4300	6503	SO:0001819	synonymous_variant	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114251809G>A	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.24C>T	X.37:g.114251809G>A						IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Silent_p.I8I	p.I8I			Q14627	I13R2_HUMAN			3	273	-			8	I -> V (in Ref. 4; BAF84646).				A8K7E2|O00667	Silent	SNP	ENST00000371936.1	37	c.24C>T	CCDS14565.1																																																																																				0.323	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		5	104	0	0	0	1	0	5	104				
NIPBL	25836	broad.mit.edu	37	5	37061005	37061005	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37061005G>A	ENST00000282516.8	+	45	8244	c.7745G>A	c.(7744-7746)cGa>cAa	p.R2582Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2582Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2582					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCGATAAACCGAAAAACAGGA	0.353																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7744-7746)cGa>cAa		Nipped-B homolog (Drosophila)							85.0	82.0	83.0					5																	37061005		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37061005G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7745G>A	5.37:g.37061005G>A	ENSP00000282516:p.Arg2582Gln					NIPBL_ENST00000448238.2_Missense_Mutation_p.R2582Q	p.R2582Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		45	8244	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2582					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7745G>A	CCDS3920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.494676|5.494676	0.96339|0.96339	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000507919|ENST00000282516;ENST00000448238	.|D;D	.|0.96774	.|-4.12;-4.09	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98210|0.98210	0.9408|0.9408	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.997;0.997;1.0	D|D	0.99170|0.99170	1.0864|1.0864	5|10	.|0.72032	.|D	.|0.01	-6.3168|-6.3168	18.7062|18.7062	0.91639|0.91639	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2582;2582;2582	.|Q6IEH8;Q6KC79;Q6KC79-2	.|.;NIPBL_HUMAN;.	K|Q	88|2582	.|ENSP00000282516:R2582Q;ENSP00000406266:R2582Q	.|ENSP00000282516:R2582Q	E|R	+|+	1|2	0|0	NIPBL|NIPBL	37096762|37096762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.400000|2.400000	0.81607|0.81607	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		5	49	0	0	0	1	0	5	49				
HIST1H2AB	8335	broad.mit.edu	37	6	26033433	26033433	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:26033433C>G	ENST00000259791.2	-	1	363	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGATGGCTCTCAGTTTTCTTA	0.488																																						ENST00000259791.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(364-366)Gag>Cag		histone cluster 1, H2ab							59.0	61.0	60.0					6																	26033433		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033433C>G	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.364G>C	6.37:g.26033433C>G	ENSP00000259791:p.Glu122Gln						p.E122Q	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN			1	363	-			122					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.364G>C	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	13.19	2.163028	0.38217	.	.	ENSG00000137259	ENST00000259791	T	0.42513	0.97	5.35	5.35	0.76521	Histone-fold (2);Histone H2A (1);	0.000000	0.35646	U	0.003064	T	0.23492	0.0568	.	.	.	0.36665	D	0.878145	B	0.02656	0.0	B	0.01281	0.0	T	0.03086	-1.1074	9	0.38643	T	0.18	.	18.4224	0.90595	0.0:1.0:0.0:0.0	.	122	P04908	H2A1B_HUMAN	Q	122	ENSP00000259791:E122Q	ENSP00000259791:E122Q	E	-	1	0	HIST1H2AB	26141412	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	5.660000	0.68018	2.648000	0.89879	0.561000	0.74099	GAG		0.488	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		10	80	0	0	0	1	0	10	80				
MSGN1	343930	broad.mit.edu	37	2	17997819	17997819	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:17997819G>A	ENST00000281047.3	+	1	57	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	12					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCAGCCTCGAGGATGGCTT	0.607																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(34-36)Gag>Aag		mesogenin 1							35.0	37.0	36.0					2																	17997819		1942	4166	6108	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17997819G>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.34G>A	2.37:g.17997819G>A	ENSP00000281047:p.Glu12Lys						p.E12K	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	57	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		12						Missense_Mutation	SNP	ENST00000281047.3	37	c.34G>A	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664931	0.29604	.	.	ENSG00000151379	ENST00000281047	T	0.16597	2.33	5.44	4.54	0.55810	.	0.280403	0.33691	N	0.004647	T	0.19644	0.0472	L	0.53249	1.67	0.30032	N	0.813392	D	0.56521	0.976	B	0.41174	0.349	T	0.10428	-1.0630	10	0.72032	D	0.01	-2.8653	15.3342	0.74238	0.0:0.0:0.859:0.141	.	12	A6NI15	MSGN1_HUMAN	K	12	ENSP00000281047:E12K	ENSP00000281047:E12K	E	+	1	0	MSGN1	17861300	0.999000	0.42202	0.003000	0.11579	0.092000	0.18411	4.177000	0.58276	1.253000	0.44018	0.655000	0.94253	GAG		0.607	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		5	46	0	0	0	1	0	5	46				
MSH2	4436	broad.mit.edu	37	2	47637291	47637291	+	Missense_Mutation	SNP	C	C	T	rs63750910		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:47637291C>T	ENST00000233146.2	+	3	648	c.425C>T	c.(424-426)tCa>tTa	p.S142L	MSH2_ENST00000543555.1_Missense_Mutation_p.S76L|MSH2_ENST00000406134.1_Missense_Mutation_p.S142L	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	142					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			aatgatatgTCAGCTTCCATT	0.388			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112	GRCh37	HM030031	MSH2	M	rs63750910	c.(424-426)tCa>tTa	Mismatch excision repair (MMR)	mutS homolog 2							294.0	291.0	292.0					2																	47637291		2203	4300	6503	SO:0001583	missense	4436	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	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47637291C>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.425C>T	2.37:g.47637291C>T	ENSP00000233146:p.Ser142Leu					MSH2_ENST00000233146.2_Missense_Mutation_p.S142L|MSH2_ENST00000543555.1_Missense_Mutation_p.S76L	p.S142L			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	487	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	142					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.425C>T	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.12|12.12	1.842913|1.842913	0.32606|0.32606	.|.	.|.	ENSG00000095002|ENSG00000095002	ENST00000413880|ENST00000233146;ENST00000454849;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	.|D;D;D;D	.|0.92048	.|-2.96;-2.9;-2.79;-2.9	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.313852	.|0.31102	.|N	.|0.008256	.|D	.|0.88426	.|0.6433	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.30021	.|0.124;0.265;0.001	.|B;B;B	.|0.24006	.|0.03;0.05;0.001	.|D	.|0.84821	.|0.0796	.|10	0.72032|0.21540	D|T	0.01|0.41	-6.792|-6.792	19.9146|19.9146	0.97053|0.97053	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|76;142;142	.|B4E2Z2;E9PHA6;P43246	.|.;.;MSH2_HUMAN	X|L	28|142;76;76;142;142;142;142;142;142	.|ENSP00000233146:S142L;ENSP00000411482:S76L;ENSP00000442697:S76L;ENSP00000384199:S142L	ENSP00000402969:Q28X|ENSP00000233146:S142L	Q|S	+|+	1|2	0|0	MSH2|MSH2	47490795|47490795	1.000000|1.000000	0.71417|0.71417	0.811000|0.811000	0.32455|0.32455	0.013000|0.013000	0.08279|0.08279	5.699000|5.699000	0.68310|0.68310	2.707000|2.707000	0.92482|0.92482	0.603000|0.603000	0.83216|0.83216	CAG|TCA		0.388	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			55	374	0	0	0	1	0	55	374				
MUC16	94025	broad.mit.edu	37	19	9065474	9065474	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:9065474C>T	ENST00000397910.4	-	3	22175	c.21972G>A	c.(21970-21972)atG>atA	p.M7324I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7326	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGATGGTCATTTCTGATG	0.443																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21970-21972)atG>atA		mucin 16, cell surface associated							143.0	139.0	140.0					19																	9065474		1933	4124	6057	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065474C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21972G>A	19.37:g.9065474C>T	ENSP00000381008:p.Met7324Ile						p.M7324I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22175	-			7326			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21972G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	5.755	0.323727	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	2.89	-5.78	0.02362	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	.	.	.	B	0.10296	0.003	B	0.09377	0.004	T	0.46992	-0.9151	8	0.87932	D	0	.	5.8382	0.18619	0.0:0.2288:0.1571:0.6141	.	7324	B5ME49	.	I	7324	ENSP00000381008:M7324I	ENSP00000381008:M7324I	M	-	3	0	MUC16	8926474	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.528000	0.02225	-1.351000	0.02197	0.385000	0.25706	ATG		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	66	0	0	0	1	0	9	66				
CYP2W1	54905	broad.mit.edu	37	7	1028135	1028135	+	Intron	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:1028135C>T	ENST00000308919.7	+	8	1298				CYP2W1_ENST00000340150.6_Silent_p.L400L	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCTGCCGCCTCTGCACCCACC	0.716																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(1198-1200)Ctg>Ttg		cytochrome P450, family 2, subfamily W, polypeptide 1																																				SO:0001627	intron_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1028135C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.1285+81C>T	7.37:g.1028135C>T						CYP2W1_ENST00000308919.7_Intron	p.L400L			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	8	1220	+		Ovarian(82;0.0112)	0						Silent	SNP	ENST00000308919.7	37	c.1198C>T	CCDS5319.2																																																																																				0.716	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		4	13	0	0	0	1	0	4	13				
DST	667	broad.mit.edu	37	6	56438649	56438649	+	Missense_Mutation	SNP	G	G	C	rs200280141		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:56438649G>C	ENST00000361203.3	-	47	12438	c.12431C>G	c.(12430-12432)tCt>tGt	p.S4144C	DST_ENST00000446842.2_Missense_Mutation_p.S3820C|DST_ENST00000244364.6_Missense_Mutation_p.S1732C|DST_ENST00000370788.2_Missense_Mutation_p.S2058C|DST_ENST00000312431.6_Missense_Mutation_p.S4144C|DST_ENST00000370769.4_Missense_Mutation_p.S4146C|DST_ENST00000421834.2_Missense_Mutation_p.S2058C|DST_ENST00000370754.5_Missense_Mutation_p.S4324C			Q03001	DYST_HUMAN	dystonin	4144					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATTAACAGACTTGGACAG	0.418																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(12970-12972)tCt>tGt		dystonin		G	CYS/SER	0,3866		0,0,1933	129.0	123.0	125.0		5195	4.1	0.9	6		125	1,8263		0,1,4131	yes	missense	DST	NM_015548.4	112	0,1,6064	CC,CG,GG		0.0121,0.0,0.0082	benign	1732/5172	56438649	1,12129	1933	4132	6065	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56438649G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12431C>G	6.37:g.56438649G>C	ENSP00000354508:p.Ser4144Cys					DST_ENST00000312431.6_Missense_Mutation_p.S4144C|DST_ENST00000446842.2_Missense_Mutation_p.S3820C|DST_ENST00000244364.6_Missense_Mutation_p.S1732C|DST_ENST00000370769.4_Missense_Mutation_p.S4146C|DST_ENST00000370788.2_Missense_Mutation_p.S2058C|DST_ENST00000421834.2_Missense_Mutation_p.S2058C|DST_ENST00000361203.3_Missense_Mutation_p.S4144C	p.S4324C			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		51	12970	-	Lung NSC(77;0.103)		4144					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.12971C>G		.	.	.	.	.	.	.	.	.	.	G	11.61	1.691218	0.30052	0.0	1.21E-4	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.95	4.14	0.48551	.	0.122950	0.36972	N	0.002318	T	0.35480	0.0933	L	0.61218	1.895	0.26988	N	0.965205	B;B;B;B;B	0.23735	0.016;0.028;0.028;0.003;0.09	B;B;B;B;B	0.30782	0.016;0.12;0.12;0.009;0.067	T	0.29119	-1.0022	9	0.48119	T	0.1	.	16.9515	0.86246	0.0:0.2401:0.7599:0.0	.	2058;4146;4324;4144;1732	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	C	1732;4324;4146;2058;3820;4144;2058;4144	ENSP00000244364:S1732C;ENSP00000359790:S4324C;ENSP00000359805:S4146C;ENSP00000400883:S2058C;ENSP00000393645:S3820C;ENSP00000307959:S4144C;ENSP00000359824:S2058C;ENSP00000354508:S4144C	ENSP00000244364:S1732C	S	-	2	0	DST	56546608	1.000000	0.71417	0.937000	0.37676	0.976000	0.68499	4.411000	0.59781	0.810000	0.34279	0.650000	0.86243	TCT		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		10	39	0	0	0	1	0	10	39				
MYO1C	4641	broad.mit.edu	37	17	1386278	1386278	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:1386278C>G	ENST00000575158.1	-	4	494	c.318G>C	c.(316-318)gaG>gaC	p.E106D	MYO1C_ENST00000438665.2_Missense_Mutation_p.E122D|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Missense_Mutation_p.E141D|MYO1C_ENST00000545534.2_Missense_Mutation_p.E117D|MYO1C_ENST00000361007.2_Missense_Mutation_p.E106D			Q12965	MYO1E_HUMAN	myosin IC	113	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCCCCGCTCTCCCCAGAGA	0.687																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(421-423)gaG>gaC		myosin IC							29.0	28.0	29.0					17																	1386278		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1386278C>G	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.318G>C	17.37:g.1386278C>G	ENSP00000459174:p.Glu106Asp					MYO1C_ENST00000575158.1_Missense_Mutation_p.E106D|MYO1C_ENST00000361007.2_Missense_Mutation_p.E106D|MYO1C_ENST00000545534.2_Missense_Mutation_p.E117D|MYO1C_ENST00000438665.2_Missense_Mutation_p.E122D	p.E141D	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	747	-			141			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.423G>C	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130551	0.77549	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.45	3.43	0.39272	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	H	0.99312	4.51	0.50313	D	0.999869	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.991	D	0.97163	0.9839	10	0.87932	D	0	.	8.3905	0.32526	0.0:0.7531:0.0:0.2469	.	117;141;122	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	D	141;122;122;106;117;106	ENSP00000352834:E141D;ENSP00000412197:E122D;ENSP00000354283:E106D;ENSP00000437685:E117D	ENSP00000352834:E141D	E	-	3	2	MYO1C	1333028	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.729000	0.47327	0.636000	0.30508	0.462000	0.41574	GAG		0.687	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			6	32	0	0	0	1	0	6	32				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	11	0	0	0	1	0	3	11				
RIMBP2	23504	broad.mit.edu	37	12	130883689	130883689	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:130883689G>T	ENST00000261655.4	-	19	3313	c.3150C>A	c.(3148-3150)ttC>ttA	p.F1050L		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1050					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATTAAGGTGTGAAATGAACAC	0.343																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(3148-3150)ttC>ttA		RIMS binding protein 2							138.0	129.0	132.0					12																	130883689		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130883689G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.3150C>A	12.37:g.130883689G>T	ENSP00000261655:p.Phe1050Leu						p.F1050L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	19	3313	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	1050					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.3150C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455393	0.63401	.	.	ENSG00000060709	ENST00000261655	T	0.21734	1.99	5.64	4.75	0.60458	.	0.086298	0.44285	N	0.000467	T	0.34193	0.0889	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.15867	-1.0422	10	0.87932	D	0	-21.196	15.0392	0.71774	0.0685:0.0:0.9315:0.0	.	1050	O15034	RIMB2_HUMAN	L	1050	ENSP00000261655:F1050L	ENSP00000261655:F1050L	F	-	3	2	RIMBP2	129449642	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.550000	0.82173	1.531000	0.49152	0.650000	0.86243	TTC		0.343	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		9	77	1	0	0.000442599	1	0.000450834	9	77				
SPTLC1	10558	broad.mit.edu	37	9	94830360	94830360	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:94830360C>G	ENST00000262554.2	-	6	453	c.448G>C	c.(448-450)Gac>Cac	p.D150H	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	150					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GCCAGGCGGTCTTCCAAATCC	0.338																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(448-450)Gac>Cac		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						82.0	84.0	84.0					9																	94830360		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94830360C>G	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.448G>C	9.37:g.94830360C>G	ENSP00000262554:p.Asp150His					SPTLC1_ENST00000482632.1_5'UTR	p.D150H	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			6	453	-			150					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.448G>C	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333340	0.60853	.	.	ENSG00000090054	ENST00000262554	D	0.95272	-3.66	5.03	5.03	0.67393	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.397427	0.30134	N	0.010333	D	0.95484	0.8533	L	0.49571	1.57	0.80722	D	1	B;P;B	0.36660	0.199;0.564;0.031	P;P;B	0.50314	0.637;0.528;0.264	D	0.95709	0.8756	10	0.72032	D	0.01	-11.2968	18.7361	0.91755	0.0:1.0:0.0:0.0	.	150;145;150	Q6NUL7;Q59EQ4;O15269	.;.;SPTC1_HUMAN	H	150	ENSP00000262554:D150H	ENSP00000262554:D150H	D	-	1	0	SPTLC1	93870181	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.731000	0.68554	2.506000	0.84524	0.467000	0.42956	GAC		0.338	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		3	21	0	0	0	1	0	3	21				
EXPH5	23086	broad.mit.edu	37	11	108384223	108384223	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:108384223C>T	ENST00000265843.4	-	6	2121	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.E483K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E664K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E595K	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	671					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACAGTGACTTCTGTATGGCTT	0.433																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(2011-2013)Gaa>Aaa		exophilin 5							111.0	106.0	108.0					11																	108384223		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384223C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2011G>A	11.37:g.108384223C>T	ENSP00000265843:p.Glu671Lys					EXPH5_ENST00000428840.1_Missense_Mutation_p.E595K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E483K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E664K|EXPH5_ENST00000524840.1_5'UTR	p.E671K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2121	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	671					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2011G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094799	0.36952	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04654	4.17;4.1;3.95;4.17;4.01;3.58	5.82	3.96	0.45880	.	0.465506	0.22076	N	0.064972	T	0.08447	0.0210	L	0.55103	1.725	0.09310	N	1	D	0.55605	0.972	P	0.49301	0.606	T	0.19192	-1.0313	10	0.33141	T	0.24	-4.5801	9.1022	0.36676	0.0:0.833:0.0:0.167	.	671	Q8NEV8	EXPH5_HUMAN	K	671;595;483;664;515;595;483	ENSP00000265843:E671K;ENSP00000391966:E595K;ENSP00000411390:E483K;ENSP00000432546:E664K;ENSP00000432683:E595K;ENSP00000446434:E483K	ENSP00000265843:E671K	E	-	1	0	EXPH5	107889433	0.000000	0.05858	0.017000	0.16124	0.052000	0.14988	0.067000	0.14510	1.474000	0.48178	0.557000	0.71058	GAA		0.433	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		9	88	0	0	0	1	0	9	88				
SERPINE2	5270	broad.mit.edu	37	2	224856626	224856626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:224856626C>T	ENST00000258405.4	-	4	821	c.579G>A	c.(577-579)tgG>tgA	p.W193*	SERPINE2_ENST00000447280.2_Nonsense_Mutation_p.W205*|SERPINE2_ENST00000409304.1_Nonsense_Mutation_p.W193*|SERPINE2_ENST00000409840.3_Nonsense_Mutation_p.W193*	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	193					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACCGTGATTTCCACAGACCCT	0.512																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(577-579)tgG>tgA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							148.0	114.0	126.0					2																	224856626		2203	4300	6503	SO:0001587	stop_gained	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224856626C>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.579G>A	2.37:g.224856626C>T	ENSP00000258405:p.Trp193*					SERPINE2_ENST00000258405.4_Nonsense_Mutation_p.W193*|SERPINE2_ENST00000447280.2_Nonsense_Mutation_p.W205*|SERPINE2_ENST00000409304.1_Nonsense_Mutation_p.W193*	p.W193*			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	5	1239	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	193					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Nonsense_Mutation	SNP	ENST00000258405.4	37	c.579G>A	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	38	7.026635	0.98013	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	193;193;193;205;193	.	ENSP00000258405:W193X	W	-	3	0	SERPINE2	224564870	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.430000	0.80321	2.732000	0.93576	0.650000	0.86243	TGG		0.512	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		9	60	0	0	0	1	0	9	60				
PLXNA3	55558	broad.mit.edu	37	X	153690647	153690647	+	Silent	SNP	G	G	A	rs145756790	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:153690647G>A	ENST00000369682.3	+	4	1489	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	438	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGCTTGAAGAAGGTGGCCC	0.652																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1312-1314)aaG>aaA		plexin A3							28.0	29.0	29.0					X																	153690647		2203	4296	6499	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153690647G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1314G>A	X.37:g.153690647G>A							p.K438K	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			4	1489	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		438			Sema.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.1314G>A	CCDS14752.1																																																																																				0.652	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		5	79	0	0	0	1	0	5	79				
KIAA0226	9711	broad.mit.edu	37	3	197410213	197410213	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:197410213C>G	ENST00000296343.5	-	13	1944	c.1945G>C	c.(1945-1947)Gag>Cag	p.E649Q	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E674Q|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E604Q	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	649					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACAAGCCACTCCAGCTCCGAG	0.607																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1810-1812)Gag>Cag		KIAA0226							58.0	64.0	62.0					3																	197410213		1978	4155	6133	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197410213C>G	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1945G>C	3.37:g.197410213C>G	ENSP00000296343:p.Glu649Gln					KIAA0226_ENST00000296343.5_Missense_Mutation_p.E649Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E674Q	p.E604Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	14	2355	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		649			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1810G>C	CCDS43195.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.44|13.44|13.44	2.239021|2.239021|2.239021	0.39598|0.39598|0.39598	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665|ENST00000413360|ENST00000415452	T;T;T|.|.	0.49720|.|.	0.77;0.77;0.77|.|.	5.47|5.47|5.47	5.47|5.47|5.47	0.80525|0.80525|0.80525	.|.|.	0.119316|.|.	0.56097|.|.	D|.|.	0.000027|.|.	T|T|T	0.51346|0.51346|0.51346	0.1669|0.1669|0.1669	N|N|N	0.13098|0.13098|0.13098	0.295|0.295|0.295	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;B;P|.|.	0.76494|.|.	0.999;0.342;0.737|.|.	D;B;B|.|.	0.71414|.|.	0.973;0.306;0.278|.|.	T|T|T	0.45760|0.45760|0.45760	-0.9239|-0.9239|-0.9239	10|5|5	0.12103|.|.	T|.|.	0.63|.|.	.|.|.	19.3188|19.3188|19.3188	0.94229|0.94229|0.94229	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	674;604;649|.|.	Q92622-3;Q92622-2;Q92622|.|.	.;.;RUBIC_HUMAN|.|.	Q|A|C	604;649;674|610|432	ENSP00000273582:E604Q;ENSP00000296343:E649Q;ENSP00000374316:E674Q|.|.	ENSP00000273582:E604Q|.|.	E|G|W	-|-|-	1|2|3	0|0|0	KIAA0226|KIAA0226|KIAA0226	198894610|198894610|198894610	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.986000|0.986000|0.986000	0.45419|0.45419|0.45419	0.610000|0.610000|0.610000	0.37248|0.37248|0.37248	7.783000|7.783000|7.783000	0.85696|0.85696|0.85696	2.585000|2.585000|2.585000	0.87301|0.87301|0.87301	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAG|GGA|TGG		0.607	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		14	66	0	0	0	1	0	14	66				
HTT	3064	broad.mit.edu	37	4	3138037	3138037	+	Missense_Mutation	SNP	G	G	A	rs369875192		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:3138037G>A	ENST00000355072.5	+	21	2927	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	928					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.A928T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATGTTGCCGCAGCATCACT	0.378																																						ENST00000355072.5																			1	Substitution - Missense(1)	p.A928T(1)	prostate(1)	breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(2782-2784)Gca>Aca		huntingtin		G	THR/ALA	0,3748		0,0,1874	141.0	135.0	137.0		2782	5.7	0.2	4		137	1,8227		0,1,4113	no	missense	HTT	NM_002111.6	58	0,1,5987	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	928/3143	3138037	1,11975	1874	4114	5988	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3138037G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2782G>A	4.37:g.3138037G>A	ENSP00000347184:p.Ala928Thr						p.A928T	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	21	2927	+		all_epithelial(65;0.18)	928					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2782G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243531	0.95272	0.0	1.22E-4	ENSG00000197386	ENST00000355072	T	0.66815	-0.23	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74169	-0.3752	10	0.42905	T	0.14	.	19.9351	0.97137	0.0:0.0:1.0:0.0	.	928	P42858	HD_HUMAN	T	928	ENSP00000347184:A928T	ENSP00000347184:A928T	A	+	1	0	HTT	3107835	1.000000	0.71417	0.170000	0.22879	0.616000	0.37450	6.620000	0.74224	2.703000	0.92315	0.655000	0.94253	GCA		0.378	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	30	0	0	0	1	0	3	30				
TTLL12	23170	broad.mit.edu	37	22	43576835	43576835	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:43576835G>C	ENST00000216129.6	-	3	522	c.459C>G	c.(457-459)ttC>ttG	p.F153L		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	153					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTCACCGTGGAACTCAATGC	0.652																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(457-459)ttC>ttG		tubulin tyrosine ligase-like family, member 12							85.0	70.0	75.0					22																	43576835		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43576835G>C	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.459C>G	22.37:g.43576835G>C	ENSP00000216129:p.Phe153Leu						p.F153L	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			3	522	-		Ovarian(80;0.221)|Glioma(61;0.222)	153					Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.459C>G	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	9.772	1.173086	0.21704	.	.	ENSG00000100304	ENST00000216129;ENST00000357017;ENST00000423379	T	0.05513	3.43	5.36	1.79	0.24919	.	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.38531	1.155	0.58432	D	0.999993	B;B	0.13594	0.004;0.008	B;B	0.15870	0.014;0.014	T	0.28744	-1.0034	10	0.02654	T	1	-8.72	8.5056	0.33186	0.2082:0.1253:0.6665:0.0	.	153;153	B1AH89;Q14166	.;TTL12_HUMAN	L	153	ENSP00000216129:F153L	ENSP00000216129:F153L	F	-	3	2	TTLL12	41906779	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.740000	0.38228	1.260000	0.44134	0.655000	0.94253	TTC		0.652	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		26	138	0	0	0	1	0	26	138				
TBC1D22A	25771	broad.mit.edu	37	22	47308042	47308042	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:47308042C>G	ENST00000337137.4	+	8	1139	c.973C>G	c.(973-975)Ctc>Gtc	p.L325V	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L266V|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L247V	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	325	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TATAAATGATCTCGTCACTCC	0.398																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(973-975)Ctc>Gtc		TBC1 domain family, member 22A							239.0	208.0	219.0					22																	47308042		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47308042C>G	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.973C>G	22.37:g.47308042C>G	ENSP00000336724:p.Leu325Val					TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L247V|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L266V	p.L325V	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	8	1139	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	325			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.973C>G	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151148	0.78001	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	5.56	5.56	0.83823	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	M	0.70108	2.13	0.80722	D	1	D;D;D;D	0.56746	0.976;0.971;0.977;0.976	P;D;D;P	0.66979	0.882;0.913;0.948;0.882	T	0.00277	-1.1854	10	0.52906	T	0.07	.	18.1129	0.89541	0.0:1.0:0.0:0.0	.	325;247;266;325	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	V	325;278;266;247;278	ENSP00000336724:L325V;ENSP00000370383:L278V;ENSP00000384036:L266V;ENSP00000347932:L247V;ENSP00000385634:L278V	ENSP00000336724:L325V	L	+	1	0	TBC1D22A	45686706	1.000000	0.71417	0.983000	0.44433	0.454000	0.32378	7.060000	0.76692	2.599000	0.87857	0.655000	0.94253	CTC		0.398	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		17	116	0	0	0	1	0	17	116				
CCDC71	64925	broad.mit.edu	37	3	49201250	49201250	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:49201250G>A	ENST00000321895.6	-	2	498	c.392C>T	c.(391-393)cCa>cTa	p.P131L		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	131										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAAGGGCTGGTGTGGATGC	0.632																																						ENST00000321895.6																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(391-393)cCa>cTa		coiled-coil domain containing 71							86.0	85.0	85.0					3																	49201250		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49201250G>A	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.392C>T	3.37:g.49201250G>A	ENSP00000319006:p.Pro131Leu						p.P131L	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	498	-			131					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.392C>T	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019963	0.35606	.	.	ENSG00000177352	ENST00000321895	T	0.31769	1.48	5.63	5.63	0.86233	.	0.449416	0.19601	N	0.110392	T	0.30696	0.0773	L	0.54323	1.7	0.09310	N	1	P	0.41848	0.763	B	0.39738	0.308	T	0.37641	-0.9697	10	0.66056	D	0.02	-21.1329	10.5685	0.45186	0.0:0.123:0.6348:0.2422	.	131	Q8IV32	CCD71_HUMAN	L	131	ENSP00000319006:P131L	ENSP00000319006:P131L	P	-	2	0	CCDC71	49176254	0.693000	0.27728	1.000000	0.80357	0.980000	0.70556	2.412000	0.44609	2.669000	0.90835	0.650000	0.86243	CCA		0.632	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		16	68	0	0	0	1	0	16	68				
LIPH	200879	broad.mit.edu	37	3	185252682	185252682	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:185252682G>C	ENST00000296252.4	-	2	429	c.288C>G	c.(286-288)ctC>ctG	p.L96L	LIPH_ENST00000424591.2_Silent_p.L96L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	96					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTCAACAGAGAGCAAACCCT	0.438																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(286-288)ctC>ctG		lipase, member H							129.0	122.0	125.0					3																	185252682		2203	4300	6503	SO:0001819	synonymous_variant	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185252682G>C	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.288C>G	3.37:g.185252682G>C						LIPH_ENST00000424591.2_Silent_p.L96L	p.L96L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		2	429	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		96					A2IBA7|Q8TEC7	Silent	SNP	ENST00000296252.4	37	c.288C>G	CCDS3272.1																																																																																				0.438	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			5	128	0	0	0	1	0	5	128				
LPIN3	64900	broad.mit.edu	37	20	39984669	39984669	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:39984669C>G	ENST00000373257.3	+	14	1889	c.1798C>G	c.(1798-1800)Cag>Gag	p.Q600E		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	600	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTCCTCCGATCAGATCGTAAG	0.587																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1798-1800)Cag>Gag		lipin 3							203.0	164.0	177.0					20																	39984669		2203	4300	6503	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39984669C>G	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1798C>G	20.37:g.39984669C>G	ENSP00000362354:p.Gln600Glu						p.Q600E	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			14	1889	+		Myeloproliferative disorder(115;0.000739)	600			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.1798C>G	CCDS33469.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.53|18.53	3.644909|3.644909	0.67358|0.67358	.|.	.|.	ENSG00000132793|ENSG00000132793	ENST00000445975|ENST00000373257;ENST00000373259	.|D	.|0.82711	.|-1.64	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.075336	.|0.56097	.|D	.|0.000036	D|D	0.88962|0.88962	0.6580|0.6580	M|M	0.70595|0.70595	2.14|2.14	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D	.|0.58268	.|0.982;0.969	.|D;D	.|0.65773	.|0.938;0.93	D|D	0.88637|0.88637	0.3173|0.3173	5|9	.|.	.|.	.|.	-19.8712|-19.8712	13.2751|13.2751	0.60182|0.60182	0.1586:0.8414:0.0:0.0|0.1586:0.8414:0.0:0.0	.|.	.|601;600	.|Q9BQK8-2;Q9BQK8	.|.;LPIN3_HUMAN	M|E	89|600;233	.|ENSP00000362354:Q600E	.|.	I|Q	+|+	3|1	3|0	LPIN3|LPIN3	39418083|39418083	0.999000|0.999000	0.42202|0.42202	0.932000|0.932000	0.37286|0.37286	0.625000|0.625000	0.37756|0.37756	4.101000|4.101000	0.57769|0.57769	2.387000|2.387000	0.81309|0.81309	0.462000|0.462000	0.41574|0.41574	ATC|CAG		0.587	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		7	65	0	0	0	1	0	7	65				
UBR5	51366	broad.mit.edu	37	8	103279210	103279210	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:103279210C>G	ENST00000520539.1	-	52	7993	c.7387G>C	c.(7387-7389)Gat>Cat	p.D2463H	UBR5_ENST00000518205.1_Missense_Mutation_p.D192H|UBR5_ENST00000521922.1_Missense_Mutation_p.D2457H|UBR5_ENST00000220959.4_Missense_Mutation_p.D2463H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2463	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATCCAAGATCCAGGATACTA	0.318																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(7387-7389)Gat>Cat		ubiquitin protein ligase E3 component n-recognin 5							158.0	173.0	168.0					8																	103279210		2203	4298	6501	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103279210C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7387G>C	8.37:g.103279210C>G	ENSP00000429084:p.Asp2463His					UBR5_ENST00000521922.1_Missense_Mutation_p.D2457H|UBR5_ENST00000518205.1_Missense_Mutation_p.D192H|UBR5_ENST00000220959.4_Missense_Mutation_p.D2463H	p.D2463H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		52	7993	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2463			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.7387G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490300	0.84962	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.56941	0.82;0.82;0.43;0.82	5.6	5.6	0.85130	Polyadenylate-binding protein/Hyperplastic disc protein (1);HECT (2);	0.057984	0.64402	D	0.000004	T	0.49081	0.1536	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.38642	0.641;0.641	B;B	0.38500	0.275;0.275	T	0.52939	-0.8508	10	0.66056	D	0.02	.	19.2289	0.93829	0.0:1.0:0.0:0.0	.	2457;2463	E7EMW7;O95071	.;UBR5_HUMAN	H	2463;2463;192;2457	ENSP00000429084:D2463H;ENSP00000220959:D2463H;ENSP00000428693:D192H;ENSP00000427819:D2457H	ENSP00000220959:D2463H	D	-	1	0	UBR5	103348386	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.946000	0.75953	2.636000	0.89361	0.591000	0.81541	GAT		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		23	158	0	0	0	1	0	23	158				
WFDC13	164237	broad.mit.edu	37	20	44333211	44333211	+	Missense_Mutation	SNP	G	G	A	rs183041894	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:44333211G>A	ENST00000305479.2	+	2	325	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	WFDC10B_ENST00000330523.5_Intron|MIR3617_ENST00000577518.1_RNA|WFDC10B_ENST00000335769.2_Intron	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	73	WAP; atypical.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				CTGTTCATCAGAAACATTTCA	0.468													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19853	0.0		0.0	False		,,,				2504	0.0					ENST00000305479.2																			0				skin(1)|upper_aerodigestive_tract(1)	2						c.(217-219)Gaa>Aaa		WAP four-disulfide core domain 13							129.0	120.0	123.0					20																	44333211		2203	4300	6503	SO:0001583	missense	164237					extracellular region	peptidase inhibitor activity	g.chr20:44333211G>A	AF454505	CCDS13367.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000168634	ENSG00000168634		"""WAP four-disulfide core domain containing"""	16131	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 138"""	C20orf138		12206714	Standard	NM_172005		Approved	dJ601O1.3, WAP13	uc002xpd.3	Q8IUB5	OTTHUMG00000046333	ENST00000305479.2:c.217G>A	20.37:g.44333211G>A	ENSP00000302938:p.Glu73Lys					WFDC10B_ENST00000335769.2_Intron|WFDC10B_ENST00000330523.5_Intron	p.E73K	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN			2	325	+		Myeloproliferative disorder(115;0.0122)	73					Q5TEU7|Q8WWK7	Missense_Mutation	SNP	ENST00000305479.2	37	c.217G>A	CCDS13367.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.912	1.209693	0.22289	.	.	ENSG00000168634	ENST00000305479	T	0.46063	0.88	3.32	0.981	0.19756	Whey acidic protein, 4-disulphide core (1);	1.079480	0.07212	N	0.859392	T	0.22704	0.0548	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	9	0.22706	T	0.39	0.003	2.3814	0.04355	0.6187:0.0:0.1421:0.2392	.	73	Q8IUB5	WFD13_HUMAN	K	73	ENSP00000302938:E73K	ENSP00000302938:E73K	E	+	1	0	WFDC13	43766625	0.073000	0.21202	0.001000	0.08648	0.018000	0.09664	1.957000	0.40392	0.175000	0.19841	-0.379000	0.06801	GAA		0.468	WFDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106946.1			21	117	0	0	0	1	0	21	117				
NUP93	9688	broad.mit.edu	37	16	56864452	56864452	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56864452G>A	ENST00000308159.5	+	10	1061	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	NUP93_ENST00000564887.1_Missense_Mutation_p.E191K|NUP93_ENST00000542526.1_Missense_Mutation_p.E191K|NUP93_ENST00000569842.1_Missense_Mutation_p.E314K	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	314					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGAGAGGTGGAAGGCCATCC	0.502																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(571-573)Gaa>Aaa		nucleoporin 93kDa							139.0	137.0	138.0					16																	56864452		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56864452G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.940G>A	16.37:g.56864452G>A	ENSP00000310668:p.Glu314Lys					NUP93_ENST00000569842.1_Missense_Mutation_p.E314K|NUP93_ENST00000308159.5_Missense_Mutation_p.E314K|NUP93_ENST00000542526.1_Missense_Mutation_p.E191K	p.E191K	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			8	1200	+			314					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.571G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367319	0.95900	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.44083	0.93;0.93	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	L	0.55481	1.735	0.80722	D	1	P	0.42010	0.768	B	0.43301	0.415	T	0.25676	-1.0125	10	0.21014	T	0.42	-17.9236	18.9354	0.92583	0.0:0.0:1.0:0.0	.	314	Q8N1F7	NUP93_HUMAN	K	314;191	ENSP00000310668:E314K;ENSP00000440235:E191K	ENSP00000310668:E314K	E	+	1	0	NUP93	55421953	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.789000	0.99068	2.525000	0.85131	0.650000	0.86243	GAA		0.502	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		23	129	0	0	0	1	0	23	129				
SYNRG	11276	broad.mit.edu	37	17	35913868	35913868	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:35913868C>T	ENST00000339208.6	-	14	2097	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SYNRG_ENST00000345615.4_Missense_Mutation_p.A575T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A492T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A574T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A575T|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Missense_Mutation_p.A653T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A575T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	653	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCATAGTAGCAGCAGAACCT	0.418																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1957-1959)Gct>Act		synergin, gamma							90.0	83.0	85.0					17																	35913868		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913868C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1957G>A	17.37:g.35913868C>T	ENSP00000343610:p.Ala653Thr					SYNRG_ENST00000591288.1_Missense_Mutation_p.A492T|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.A574T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A575T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A575T|SYNRG_ENST00000346661.4_Missense_Mutation_p.A653T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A575T	p.A653T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	2097	-			653			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1957G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	1.514	-0.548830	0.04024	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.52295	1.23;0.68;0.67	5.94	1.67	0.24075	.	0.421507	0.26156	N	0.026001	T	0.27278	0.0669	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B	0.27264	0.008;0.031;0.054;0.008;0.173;0.047	B;B;B;B;B;B	0.24848	0.014;0.019;0.023;0.014;0.056;0.041	T	0.09840	-1.0656	10	0.38643	T	0.18	-3.2658	2.9579	0.05882	0.1146:0.5196:0.1116:0.2542	.	492;575;575;575;653;653	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	T	653;492;653;575;575	ENSP00000005279:A653T;ENSP00000424893:A575T;ENSP00000377903:A575T	ENSP00000343610:A492T	A	-	1	0	SYNRG	32987981	0.000000	0.05858	0.027000	0.17364	0.008000	0.06430	-0.622000	0.05553	0.406000	0.25560	0.561000	0.74099	GCT		0.418	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	99	0	0	0	1	0	14	99				
CEP85	64793	broad.mit.edu	37	1	26596039	26596039	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:26596039G>C	ENST00000252992.4	+	9	1714	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.R477T	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	528						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCAATCTGCAGAGAGAAGGAG	0.512																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(1582-1584)aGa>aCa		centrosomal protein 85kDa							67.0	67.0	67.0					1																	26596039		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26596039G>C	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1583G>C	1.37:g.26596039G>C	ENSP00000252992:p.Arg528Thr					CEP85_ENST00000451429.2_Missense_Mutation_p.R477T|CEP85_ENST00000469609.1_3'UTR	p.R528T	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			9	1714	+			528					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.1583G>C	CCDS277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.191921|2.191921	0.38707|0.38707	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000453146|ENST00000451429;ENST00000252992	.|T;T	.|0.11495	.|2.77;2.77	5.06|5.06	2.07|2.07	0.26955|0.26955	.|.	.|0.052412	.|0.85682	.|D	.|0.000000	T|T	0.11580|0.11580	0.0282|0.0282	M|M	0.64997|0.64997	1.995|1.995	0.46203|0.46203	D|D	0.998927|0.998927	.|B;B;B	.|0.28636	.|0.113;0.218;0.214	.|B;B;B	.|0.28465	.|0.054;0.055;0.09	T|T	0.07290|0.07290	-1.0780|-1.0780	5|10	.|0.56958	.|D	.|0.05	-8.0114|-8.0114	8.0632|8.0632	0.30646|0.30646	0.1487:0.0:0.7192:0.1322|0.1487:0.0:0.7192:0.1322	.|.	.|477;528;528	.|F8W7K4;Q6P2H3;Q6P2H3-2	.|.;CEP85_HUMAN;.	Q|T	202|477;528	.|ENSP00000417002:R477T;ENSP00000252992:R528T	.|ENSP00000252992:R528T	E|R	+|+	1|2	0|0	CEP85|CEP85	26468626|26468626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.725000|0.725000	0.41563|0.41563	2.766000|2.766000	0.47629|0.47629	1.363000|1.363000	0.46019|0.46019	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.512	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		6	50	0	0	0	1	0	6	50				
C11orf68	83638	broad.mit.edu	37	11	65685289	65685289	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65685289G>C	ENST00000530188.1	-	1	542	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	C11orf68_ENST00000438576.2_Missense_Mutation_p.L175V|DRAP1_ENST00000527119.1_5'Flank|DRAP1_ENST00000376991.2_5'Flank|DRAP1_ENST00000312515.2_5'Flank|C11orf68_ENST00000449692.3_Missense_Mutation_p.L174V|DRAP1_ENST00000532933.1_5'Flank			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	133							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CCCGGTGCCAGATGCATAAGC	0.662																																						ENST00000438576.2																			0				large_intestine(1)|lung(3)	4						c.(523-525)Ctg>Gtg		chromosome 11 open reading frame 68							43.0	40.0	41.0					11																	65685289		2201	4296	6497	SO:0001583	missense	83638							g.chr11:65685289G>C	AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"""basophilic leukemia-expressed protein"""					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.397C>G	11.37:g.65685289G>C	ENSP00000433914:p.Leu133Val					C11orf68_ENST00000449692.3_Missense_Mutation_p.L174V|C11orf68_ENST00000530188.1_Missense_Mutation_p.L133V	p.L175V			Q9H3H3	CK068_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	608	-			133					J3KQG9|Q9BT13	Missense_Mutation	SNP	ENST00000530188.1	37	c.523C>G		.	.	.	.	.	.	.	.	.	.	G	11.70	1.717082	0.30413	.	.	ENSG00000175573	ENST00000438576;ENST00000449692;ENST00000530188	T;T;T	0.43688	0.94;0.94;0.94	4.39	3.48	0.39840	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.64402	D	0.000005	T	0.31949	0.0813	N	0.25957	0.775	0.45464	D	0.998431	P;P	0.45634	0.835;0.863	B;P	0.45099	0.338;0.469	T	0.02736	-1.1117	10	0.27785	T	0.31	-7.1261	10.2429	0.43324	0.0992:0.0:0.9008:0.0	.	174;133	Q9H3H3-2;Q9H3H3	.;CK068_HUMAN	V	175;174;133	ENSP00000398350:L175V;ENSP00000409681:L174V;ENSP00000433914:L133V	ENSP00000398350:L175V	L	-	1	2	C11orf68	65441865	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.516000	0.35856	0.969000	0.38237	0.462000	0.41574	CTG		0.662	C11orf68-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391173.1	NM_031450		5	44	0	0	0	1	0	5	44				
KIF6	221458	broad.mit.edu	37	6	39580967	39580967	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:39580967C>T	ENST00000287152.7	-	6	731	c.637G>A	c.(637-639)Gag>Aag	p.E213K	KIF6_ENST00000538893.1_Missense_Mutation_p.E213K|KIF6_ENST00000373213.4_Missense_Mutation_p.E52K|KIF6_ENST00000373215.3_Missense_Mutation_p.E213K|KIF6_ENST00000373216.3_Missense_Mutation_p.E213K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTATTACCTCTGCAATCATT	0.378																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(637-639)Gag>Aag		kinesin family member 6							91.0	86.0	88.0					6																	39580967		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39580967C>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.637G>A	6.37:g.39580967C>T	ENSP00000287152:p.Glu213Lys					KIF6_ENST00000373213.4_Missense_Mutation_p.E52K|KIF6_ENST00000373216.3_Missense_Mutation_p.E213K|KIF6_ENST00000373215.3_Missense_Mutation_p.E213K|KIF6_ENST00000538893.1_Missense_Mutation_p.E213K	p.E213K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			6	731	-			213			Kinesin-motor.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.637G>A	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160882	0.94727	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000373211	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.59	5.59	0.84812	Kinesin, motor domain (4);	.	.	.	.	D	0.84822	0.5557	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;0.959;0.985;1.0	D;P;P;D	0.97110	0.997;0.835;0.891;1.0	D	0.84225	0.0463	9	0.48119	T	0.1	.	19.2052	0.93728	0.0:1.0:0.0:0.0	.	213;213;213;213	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	K	213;213;52;213;213;4	ENSP00000287152:E213K;ENSP00000362312:E213K;ENSP00000362309:E52K;ENSP00000362311:E213K;ENSP00000441435:E213K	ENSP00000287152:E213K	E	-	1	0	KIF6	39688945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.878000	0.69682	2.640000	0.89533	0.650000	0.86243	GAG		0.378	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		4	41	0	0	0	1	0	4	41				
SLC32A1	140679	broad.mit.edu	37	20	37356794	37356794	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:37356794G>A	ENST00000217420.1	+	2	1353	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	364					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CACCTGGGCCGACGAGACCAA	0.627																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(1090-1092)Gac>Aac		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						71.0	66.0	68.0					20																	37356794		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356794G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1090G>A	20.37:g.37356794G>A	ENSP00000217420:p.Asp364Asn						p.D364N	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	1353	+		Myeloproliferative disorder(115;0.00878)	364					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1090G>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531464	0.45073	.	.	ENSG00000101438	ENST00000217420	T	0.02158	4.42	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.01765	0.0056	N	0.19112	0.55	0.80722	D	1	P	0.39601	0.68	B	0.30855	0.121	T	0.70547	-0.4842	10	0.27082	T	0.32	-27.5888	15.0612	0.71955	0.0:0.0:1.0:0.0	.	364	Q9H598	VIAAT_HUMAN	N	364	ENSP00000217420:D364N	ENSP00000217420:D364N	D	+	1	0	SLC32A1	36790208	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.788000	0.99064	2.239000	0.73571	0.462000	0.41574	GAC		0.627	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		6	66	0	0	0	1	0	6	66				
KLHL42	57542	broad.mit.edu	37	12	27950647	27950647	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:27950647G>A	ENST00000381271.2	+	3	1377		c.e3-1		RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42						mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CTTTCTTTCAGACCGGAACAT	0.468																																						ENST00000381271.2																			0											c.e3-1		kelch-like family member 42							254.0	243.0	247.0					12																	27950647		2203	4300	6503	SO:0001630	splice_region_variant	57542							g.chr12:27950647G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1067-1G>A	12.37:g.27950647G>A								NM_020782.1	NP_065833.1					3	1377	+								Q2VPK1|Q8N334	Splice_Site	SNP	ENST00000381271.2	37		CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943968	0.73672	.	.	ENSG00000087448	ENST00000381271	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3909	0.87431	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHDC5	27841914	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.193000	0.94954	2.321000	0.78463	0.655000	0.94253	.		0.468	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	Intron	62	423	0	0	0	1	0	62	423				
LACC1	144811	broad.mit.edu	37	13	44457986	44457986	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:44457986G>A	ENST00000441843.1	+	4	1306	c.821G>A	c.(820-822)gGa>gAa	p.G274E	LACC1_ENST00000325686.6_Missense_Mutation_p.G274E	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	274																	AATCAGAGAGGAGTCACAATA	0.413																																						ENST00000441843.1																			0											c.(820-822)gGa>gAa		laccase (multicopper oxidoreductase) domain containing 1							116.0	109.0	111.0					13																	44457986		2203	4300	6503	SO:0001583	missense	144811							g.chr13:44457986G>A	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.821G>A	13.37:g.44457986G>A	ENSP00000391747:p.Gly274Glu					LACC1_ENST00000325686.6_Missense_Mutation_p.G274E	p.G274E	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			4	1306	+			274					A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	c.821G>A	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356532	0.82243	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.50548	0.74;0.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.87180	2.865	0.58432	D	0.999997	D	0.89917	1.0	D	0.71656	0.974	T	0.77327	-0.2629	10	0.62326	D	0.03	-2.5036	18.7927	0.91980	0.0:0.0:1.0:0.0	.	274	Q8IV20	LACC1_HUMAN	E	274	ENSP00000391747:G274E;ENSP00000317619:G274E	ENSP00000317619:G274E	G	+	2	0	LACC1	43355986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.507000	0.66999	2.676000	0.91093	0.655000	0.94253	GGA		0.413	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		10	79	0	0	0	1	0	10	79				
DNHD1	144132	broad.mit.edu	37	11	6540947	6540947	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6540947G>C	ENST00000527990.2	+	6	1510	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	DNHD1_ENST00000354685.3_Missense_Mutation_p.E504Q|DNHD1_ENST00000254579.6_Missense_Mutation_p.E504Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	504					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAAGCAACTGGAGCAGAAGCT	0.527																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1510-1512)Gag>Cag		dynein heavy chain domain 1							92.0	86.0	88.0					11																	6540947		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6540947G>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1510G>C	11.37:g.6540947G>C	ENSP00000436180:p.Glu504Gln					DNHD1_ENST00000354685.3_Missense_Mutation_p.E504Q|DNHD1_ENST00000527990.2_Missense_Mutation_p.E504Q	p.E504Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	8	2074	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	504					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1510G>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521578	0.44866	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.29142	1.58;2.66;1.58	5.71	0.255	0.15561	.	0.450396	0.20576	N	0.089631	T	0.27313	0.0670	L	0.32530	0.975	0.23113	N	0.998277	D;P	0.59357	0.985;0.592	P;B	0.55508	0.777;0.352	T	0.16335	-1.0406	10	0.18276	T	0.48	.	5.4737	0.16684	0.2441:0.2731:0.4828:0.0	.	504;504	Q96M86;Q96M86-4	DNHD1_HUMAN;.	Q	504	ENSP00000254579:E504Q;ENSP00000346716:E504Q;ENSP00000436180:E504Q	ENSP00000254579:E504Q	E	+	1	0	DNHD1	6497523	1.000000	0.71417	0.998000	0.56505	0.619000	0.37552	0.404000	0.20999	0.327000	0.23409	0.563000	0.77884	GAG		0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		8	68	0	0	0	1	0	8	68				
CCNE2	9134	broad.mit.edu	37	8	95906442	95906442	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:95906442C>T	ENST00000520509.1	-	2	260	c.8G>A	c.(7-9)aGa>aAa	p.R3K	CCNE2_ENST00000308108.4_Missense_Mutation_p.R3K|CCNE2_ENST00000396133.3_Missense_Mutation_p.R3K|CCNE2_ENST00000523476.1_5'Flank|NDUFAF6_ENST00000396113.1_5'Flank			O96020	CCNE2_HUMAN	cyclin E2	3					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTACCTTCGTCTTGACATTCT	0.388																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(7-9)aGa>aAa		cyclin E2							154.0	175.0	168.0					8																	95906442		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95906442C>T	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.8G>A	8.37:g.95906442C>T	ENSP00000429089:p.Arg3Lys					CCNE2_ENST00000308108.4_Missense_Mutation_p.R3K|CCNE2_ENST00000396133.3_Missense_Mutation_p.R3K	p.R3K			O96020	CCNE2_HUMAN			2	260	-	Breast(36;8.75e-07)		3					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.8G>A	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	c	31	5.082940	0.94050	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000396133	T;T;T	0.41400	1.47;1.47;1.0	4.95	4.95	0.65309	.	0.185477	0.43416	D	0.000569	T	0.62319	0.2418	M	0.70275	2.135	0.48040	D	0.999576	D;D	0.76494	0.999;0.997	D;D	0.72625	0.923;0.978	T	0.60667	-0.7218	10	0.32370	T	0.25	.	15.9692	0.79998	0.0:1.0:0.0:0.0	.	3;3	Q8WUE3;O96020	.;CCNE2_HUMAN	K	3	ENSP00000429089:R3K;ENSP00000309181:R3K;ENSP00000379437:R3K	ENSP00000309181:R3K	R	-	2	0	CCNE2	95975618	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.549000	0.60726	2.282000	0.76494	0.457000	0.33378	AGA		0.388	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		36	268	0	0	0	1	0	36	268				
PADI3	51702	broad.mit.edu	37	1	17603150	17603150	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:17603150G>A	ENST00000375460.3	+	12	1484	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	482					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCTGCCCCCGATGGGAAGGT	0.597																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1444-1446)Gat>Aat		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						124.0	107.0	113.0					1																	17603150		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17603150G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1444G>A	1.37:g.17603150G>A	ENSP00000364609:p.Asp482Asn						p.D482N	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1484	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	482					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1444G>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108808	0.77096	.	.	ENSG00000142619	ENST00000375460	T	0.27104	1.69	5.52	5.52	0.82312	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.43554	1.36	0.58432	D	0.999999	P	0.39665	0.682	B	0.29716	0.106	T	0.04855	-1.0922	10	0.15499	T	0.54	-22.6655	18.3633	0.90382	0.0:0.0:1.0:0.0	.	482	Q9ULW8	PADI3_HUMAN	N	482	ENSP00000364609:D482N	ENSP00000364609:D482N	D	+	1	0	PADI3	17475737	1.000000	0.71417	0.333000	0.25482	0.687000	0.40016	5.230000	0.65321	2.754000	0.94517	0.650000	0.86243	GAT		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			9	101	0	0	0	1	0	9	101				
FBXO47	494188	broad.mit.edu	37	17	37093512	37093512	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:37093512C>G	ENST00000378079.2	-	11	1474	c.1275G>C	c.(1273-1275)ttG>ttC	p.L425F		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	425										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGAACAAATTCAAAAAGCTTC	0.353																																						ENST00000378079.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(1273-1275)ttG>ttC		F-box protein 47							125.0	109.0	115.0					17																	37093512		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37093512C>G		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1275G>C	17.37:g.37093512C>G	ENSP00000367319:p.Leu425Phe						p.L425F	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			11	1474	-			425					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.1275G>C	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493143	0.64186	.	.	ENSG00000204952	ENST00000378079	T	0.60040	0.22	5.88	4.92	0.64577	.	0.431192	0.23079	N	0.052176	T	0.49609	0.1567	L	0.27053	0.805	0.39818	D	0.972793	P	0.46706	0.883	P	0.44732	0.459	T	0.55736	-0.8094	10	0.56958	D	0.05	-1.2144	13.5195	0.61559	0.0:0.925:0.0:0.075	.	425	Q5MNV8	FBX47_HUMAN	F	425	ENSP00000367319:L425F	ENSP00000367319:L425F	L	-	3	2	FBXO47	34347038	0.993000	0.37304	0.987000	0.45799	0.965000	0.64279	0.669000	0.25142	1.499000	0.48617	0.650000	0.86243	TTG		0.353	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		8	49	0	0	0	1	0	8	49				
CDH23	64072	broad.mit.edu	37	10	73572567	73572567	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:73572567G>A	ENST00000224721.6	+	67	9573	c.9568G>A	c.(9568-9570)Gac>Aac	p.D3190N	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D945N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3185					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCTGATGATGACCGATACCT	0.577																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9568-9570)Gac>Aac		cadherin-related 23							47.0	52.0	50.0					10																	73572567		2085	4208	6293	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73572567G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9568G>A	10.37:g.73572567G>A	ENSP00000224721:p.Asp3190Asn					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D945N	p.D3190N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			67	9573	+			3185					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9568G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.021806	0.97211	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	D	0.83163	-1.69	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90304	0.6967	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.997	D;D;D;D	0.87578	0.998;0.994;0.989;0.989	D	0.90329	0.4350	10	0.87932	D	0	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	82;82;3185;3185	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	N	3190;3185;3188;945	ENSP00000381768:D945N	ENSP00000224721:D3190N	D	+	1	0	CDH23	73242573	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	9.799000	0.99117	2.768000	0.95171	0.561000	0.74099	GAC		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	27	0	0	0	1	0	5	27				
THBD	7056	broad.mit.edu	37	20	23029290	23029290	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:23029290C>G	ENST00000377103.2	-	1	1088	c.852G>C	c.(850-852)gcG>gcC	p.A284A		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	284	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	AGGACTGCGTCGCGGATGCGG	0.716																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(850-852)gcG>gcC		thrombomodulin	Drotrecogin alfa(DB00055)						15.0	15.0	15.0					20																	23029290		2185	4287	6472	SO:0001819	synonymous_variant	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029290C>G		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.852G>C	20.37:g.23029290C>G							p.A284A	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1088	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		284			EGF-like 2.		Q8IV29|Q9UC32	Silent	SNP	ENST00000377103.2	37	c.852G>C	CCDS13148.1																																																																																				0.716	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			6	22	0	0	0	1	0	6	22				
NCKAP5	344148	broad.mit.edu	37	2	133539648	133539648	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:133539648T>C	ENST00000409261.1	-	14	5109	c.4736A>G	c.(4735-4737)gAt>gGt	p.D1579G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1579G|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1579										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAAACCGCCATCTGGATTATC	0.388																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4735-4737)gAt>gGt		NCK-associated protein 5							203.0	184.0	190.0					2																	133539648		1903	4106	6009	SO:0001583	missense	344148						protein binding	g.chr2:133539648T>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4736A>G	2.37:g.133539648T>C	ENSP00000387128:p.Asp1579Gly					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1579G|NCKAP5_ENST00000409213.1_Intron	p.D1579G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	5109	-			1579					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4736A>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	5.507	0.278603	0.10458	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10668	2.85;2.85	5.33	2.97	0.34412	.	0.000000	0.35320	U	0.003292	T	0.07818	0.0196	L	0.29908	0.895	0.19775	N	0.999958	B	0.12630	0.006	B	0.17098	0.017	T	0.28235	-1.0050	10	0.72032	D	0.01	.	5.9572	0.19279	0.1454:0.0774:0.0:0.7771	.	1579	O14513	NCKP5_HUMAN	G	1579	ENSP00000387128:D1579G;ENSP00000380603:D1579G	ENSP00000380603:D1579G	D	-	2	0	NCKAP5	133256118	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.587000	0.23909	0.484000	0.27630	-0.403000	0.06358	GAT		0.388	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		13	93	0	0	0	1	0	13	93				
FSIP1	161835	broad.mit.edu	37	15	40062670	40062670	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:40062670C>T	ENST00000350221.3	-	3	477	c.268G>A	c.(268-270)Gat>Aat	p.D90N	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	90										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAATCCAGATCTTCATCTGAT	0.358																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(268-270)Gat>Aat		fibrous sheath interacting protein 1							192.0	173.0	180.0					15																	40062670		2203	4300	6503	SO:0001583	missense	161835							g.chr15:40062670C>T	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.268G>A	15.37:g.40062670C>T	ENSP00000280236:p.Asp90Asn						p.D90N	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	3	477	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	90					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.268G>A	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427943	0.62733	.	.	ENSG00000150667	ENST00000350221	T	0.23950	1.88	4.71	2.8	0.32819	.	0.125149	0.36555	N	0.002524	T	0.25457	0.0619	M	0.70595	2.14	0.29249	N	0.872118	B	0.27498	0.18	B	0.29176	0.099	T	0.13980	-1.0489	9	.	.	.	-8.2632	6.8587	0.24054	0.0:0.729:0.1755:0.0955	.	90	Q8NA03	FSIP1_HUMAN	N	90	ENSP00000280236:D90N	.	D	-	1	0	FSIP1	37849962	0.916000	0.31088	0.946000	0.38457	0.106000	0.19336	1.158000	0.31737	0.695000	0.31675	-0.172000	0.13284	GAT		0.358	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		16	114	0	0	0	1	0	16	114				
RP1L1	94137	broad.mit.edu	37	8	10468885	10468885	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:10468885G>A	ENST00000382483.3	-	4	2946	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	908					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTTCTCCTTGATGCCCCTGA	0.711																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2722-2724)tCa>tTa		retinitis pigmentosa 1-like 1							10.0	13.0	12.0					8																	10468885		1903	4097	6000	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468885G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2723C>T	8.37:g.10468885G>A	ENSP00000371923:p.Ser908Leu						p.S908L	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2946	-			908					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2723C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451761	0.26074	.	.	ENSG00000183638	ENST00000382483	T	0.04360	3.64	4.09	-5.6	0.02497	.	.	.	.	.	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.43475	-0.9389	9	0.59425	D	0.04	0.4265	6.9369	0.24470	0.1438:0.25:0.6062:0.0	.	908	A6NKC6	.	L	908	ENSP00000371923:S908L	ENSP00000371923:S908L	S	-	2	0	RP1L1	10506295	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.637000	0.05459	-1.720000	0.01380	0.313000	0.20887	TCA		0.711	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			5	22	0	0	0	1	0	5	22				
POGZ	23126	broad.mit.edu	37	1	151377434	151377434	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:151377434C>G	ENST00000271715.2	-	19	4391	c.4077G>C	c.(4075-4077)ctG>ctC	p.L1359L	POGZ_ENST00000392723.1_Silent_p.L1306L|POGZ_ENST00000409503.1_Silent_p.L1350L|POGZ_ENST00000368863.2_Silent_p.L1264L|POGZ_ENST00000540984.1_Silent_p.L721L|POGZ_ENST00000491586.1_Silent_p.L1315L|POGZ_ENST00000531094.1_Silent_p.L1297L|POGZ_ENST00000361398.3_Silent_p.L1306L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1359					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCCACTCAGCTTCAGTT	0.502											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(4075-4077)ctG>ctC		pogo transposable element with ZNF domain							107.0	100.0	102.0					1																	151377434		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377434C>G	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.4077G>C	1.37:g.151377434C>G			OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1739	POGZ_ENST00000491586.1_Silent_p.L1315L|POGZ_ENST00000409503.1_Silent_p.L1350L|POGZ_ENST00000392723.1_Silent_p.L1306L|POGZ_ENST00000368863.2_Silent_p.L1264L|POGZ_ENST00000540984.1_Silent_p.L721L|POGZ_ENST00000531094.1_Silent_p.L1297L|POGZ_ENST00000361398.3_Silent_p.L1306L	p.L1359L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4391	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1359					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.4077G>C	CCDS997.1																																																																																				0.502	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		7	115	0	0	0	1	0	7	115				
AFF1	4299	broad.mit.edu	37	4	88036053	88036053	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:88036053C>G	ENST00000307808.6	+	11	2467	c.2047C>G	c.(2047-2049)Ctc>Gtc	p.L683V	AFF1_ENST00000544085.1_Missense_Mutation_p.L321V|AFF1_ENST00000395146.4_Missense_Mutation_p.L690V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	683					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTCTAAGGCTCTCTCAGGCCC	0.637																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2047-2049)Ctc>Gtc		AF4/FMR2 family, member 1							49.0	58.0	55.0					4																	88036053		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036053C>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2047C>G	4.37:g.88036053C>G	ENSP00000305689:p.Leu683Val					AFF1_ENST00000395146.4_Missense_Mutation_p.L690V|AFF1_ENST00000544085.1_Missense_Mutation_p.L321V	p.L683V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2467	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	683					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2047C>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.441312	0.01098	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.44	3.57	0.40892	.	2.049060	0.02543	N	0.094867	T	0.56124	0.1964	L	0.43152	1.355	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.006;0.006;0.006	T	0.33675	-0.9859	10	0.21014	T	0.42	3.3538	8.203	0.31436	0.0:0.4869:0.3978:0.1153	.	690;683;683	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	V	690;342;683;321	ENSP00000378578:L690V;ENSP00000305689:L683V;ENSP00000440843:L321V	ENSP00000305689:L683V	L	+	1	0	AFF1	88255077	0.001000	0.12720	0.004000	0.12327	0.037000	0.13140	1.147000	0.31602	1.271000	0.44313	0.491000	0.48974	CTC		0.637	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		10	84	0	0	0	1	0	10	84				
SUPT16H	11198	broad.mit.edu	37	14	21825480	21825480	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:21825480C>T	ENST00000216297.2	-	22	2874	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	846					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGGACCCGCTCAAAGTGGATC	0.438																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2536-2538)Gag>Aag		suppressor of Ty 16 homolog (S. cerevisiae)							111.0	89.0	96.0					14																	21825480		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21825480C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2536G>A	14.37:g.21825480C>T	ENSP00000216297:p.Glu846Lys						p.E846K	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	2874	-	all_cancers(95;0.00115)		846					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2536G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780581	0.96929	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.62	5.62	0.85841	Translation elongation factor EFG/EF2, C-terminal (1);Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	D	0.87378	0.6162	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90481	0.4460	9	0.87932	D	0	-20.3878	18.4299	0.90622	0.0:1.0:0.0:0.0	.	846	Q9Y5B9	SP16H_HUMAN	K	846	.	ENSP00000216297:E846K	E	-	1	0	SUPT16H	20895320	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.031000	0.76491	2.646000	0.89796	0.655000	0.94253	GAG		0.438	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	53	0	0	0	1	0	4	53				
SMU1	55234	broad.mit.edu	37	9	33056843	33056843	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:33056843C>G	ENST00000397149.3	-	8	1037	c.987G>C	c.(985-987)caG>caC	p.Q329H	SMU1_ENST00000536631.1_Missense_Mutation_p.Q168H	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	329						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ACCTAATTGTCTGGTCAAAAG	0.413																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(985-987)caG>caC		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							115.0	110.0	112.0					9																	33056843		2203	4300	6503	SO:0001583	missense	55234					cytoplasm|nucleus		g.chr9:33056843C>G	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.987G>C	9.37:g.33056843C>G	ENSP00000380336:p.Gln329His					SMU1_ENST00000536631.1_Missense_Mutation_p.Q168H	p.Q329H	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	8	1037	-			329					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	c.987G>C	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	8.301	0.820021	0.16678	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	T;T	0.59364	0.27;0.27	4.99	2.11	0.27256	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	T	0.31606	0.0802	N	0.05012	-0.13	0.58432	D	0.999997	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.11329	0.003;0.006;0.003	T	0.04621	-1.0938	10	0.26408	T	0.33	-17.0499	9.2141	0.37337	0.0:0.7399:0.0:0.2601	.	329;168;329	A0MNN4;B4E3L0;Q2TAY7	.;.;SMU1_HUMAN	H	329;168	ENSP00000380336:Q329H;ENSP00000443639:Q168H	ENSP00000380336:Q329H	Q	-	3	2	SMU1	33046843	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.748000	0.26305	0.633000	0.30452	-0.145000	0.13849	CAG		0.413	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		8	132	0	0	0	1	0	8	132				
PCDHA5	56143	broad.mit.edu	37	5	140201951	140201951	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:140201951A>T	ENST00000529859.1	+	1	591	c.591A>T	c.(589-591)aaA>aaT	p.K197N	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.K197N|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.K197N	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGAGGAAATCCTTAGATA	0.348																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(589-591)aaA>aaT									87.0	94.0	92.0					5																	140201951		2203	4299	6502	SO:0001583	missense	56143							g.chr5:140201951A>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.591A>T	5.37:g.140201951A>T	ENSP00000436557:p.Lys197Asn					PCDHA5_ENST00000529619.1_Missense_Mutation_p.K197N|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.K197N|PCDHA1_ENST00000394633.3_Intron	p.K197N	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	591	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.591A>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359651	0.41801	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.57107	0.42;0.42;0.42	4.02	-1.76	0.08006	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69949	0.3168	M	0.91038	3.17	0.09310	N	0.999998	D;P;P	0.61080	0.989;0.856;0.856	D;P;B	0.67382	0.951;0.549;0.315	T	0.58335	-0.7654	9	0.66056	D	0.02	.	3.8865	0.09100	0.5326:0.0:0.2365:0.2308	.	197;197;197	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	N	197	ENSP00000433416:K197N;ENSP00000436557:K197N;ENSP00000367366:K197N	ENSP00000367366:K197N	K	+	3	2	PCDHA5	140182135	0.000000	0.05858	0.067000	0.19924	0.888000	0.51559	-5.004000	0.00161	-0.141000	0.11374	0.482000	0.46254	AAA		0.348	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		19	96	0	0	0	1	0	19	96				
UFL1	23376	broad.mit.edu	37	6	96985417	96985417	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:96985417G>A	ENST00000369278.4	+	9	1036	c.970G>A	c.(970-972)Gat>Aat	p.D324N		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	324					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AACATGGGTTGATATTGCAGT	0.353																																						ENST00000369278.4																			0											c.(970-972)Gat>Aat		UFM1-specific ligase 1							199.0	198.0	198.0					6																	96985417		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96985417G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.970G>A	6.37:g.96985417G>A	ENSP00000358283:p.Asp324Asn						p.D324N	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			9	1036	+			324					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.970G>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339901	0.95783	.	.	ENSG00000014123	ENST00000369278	T	0.63580	-0.05	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	M	0.85197	2.74	0.80722	D	1	P	0.48503	0.911	P	0.48770	0.589	T	0.74544	-0.3630	10	0.59425	D	0.04	-23.0924	19.2924	0.94105	0.0:0.0:1.0:0.0	.	324	O94874	UFL1_HUMAN	N	324	ENSP00000358283:D324N	ENSP00000358283:D324N	D	+	1	0	KIAA0776	97092138	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.174000	0.94824	2.878000	0.98634	0.650000	0.86243	GAT		0.353	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		16	91	0	0	0	1	0	16	91				
NIPBL	25836	broad.mit.edu	37	5	37064095	37064095	+	Intron	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37064095G>A	ENST00000282516.8	+	46	8548				NIPBL_ENST00000448238.2_Silent_p.R2688R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGCGGAGGAGGAGTCAACGTA	0.413																																						ENST00000448238.2																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8062-8064)agG>agA		Nipped-B homolog (Drosophila)							201.0	218.0	212.0					5																	37064095		2203	4300	6503	SO:0001627	intron_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064095G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8049+15G>A	5.37:g.37064095G>A						NIPBL_ENST00000282516.8_Intron	p.R2688R			Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		46	8532	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		844					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.8064G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	0.809	-0.752612	0.03041	.	.	ENSG00000164190	ENST00000507919	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.73908	0.3647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72527	-0.4266	4	.	.	.	.	17.5743	0.87944	0.0:0.0:1.0:0.0	.	.	.	.	E	194	.	.	G	+	2	0	NIPBL	37099852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.200000	0.65158	2.583000	0.87209	0.591000	0.81541	GGA		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	37	0	0	0	1	0	7	37				
MEA1	4201	broad.mit.edu	37	6	42980718	42980718	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:42980718C>G	ENST00000244711.3	-	3	506	c.352G>C	c.(352-354)Gat>Cat	p.D118H	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	118					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCTCCTCATCTTCATCTTCA	0.483																																						ENST00000244711.3																			0				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(352-354)Gat>Cat		male-enhanced antigen 1							193.0	178.0	183.0					6																	42980718		2203	4300	6503	SO:0001583	missense	4201				cell differentiation|male gonad development|spermatogenesis		protein binding	g.chr6:42980718C>G		CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.352G>C	6.37:g.42980718C>G	ENSP00000244711:p.Asp118His						p.D118H	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	506	-			118					Q5TC36|Q9BV01	Missense_Mutation	SNP	ENST00000244711.3	37	c.352G>C	CCDS4879.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082741	0.76528	.	.	ENSG00000124733	ENST00000244711	T	0.57436	0.4	6.08	6.08	0.98989	.	0.309702	0.35235	N	0.003356	T	0.39036	0.1063	L	0.27053	0.805	0.44117	D	0.996895	P	0.42203	0.773	P	0.47786	0.557	T	0.38757	-0.9646	10	0.62326	D	0.03	-8.6844	13.4739	0.61297	0.0:0.9251:0.0:0.0749	.	118	Q16626	MEA1_HUMAN	H	118	ENSP00000244711:D118H	ENSP00000244711:D118H	D	-	1	0	MEA1	43088696	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	4.948000	0.63590	2.894000	0.99253	0.591000	0.81541	GAT		0.483	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2			16	153	0	0	0	1	0	16	153				
SNX20	124460	broad.mit.edu	37	16	50707318	50707318	+	Nonstop_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:50707318C>G	ENST00000330943.4	-	4	1121	c.950G>C	c.(949-951)tGa>tCa	p.*317S	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	0					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CAGGCCGGCTCAGTGCAGGTA	0.572																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(949-951)tGa>tCa		sorting nexin 20							49.0	55.0	53.0					16																	50707318		2195	4299	6494	SO:0001578	stop_lost	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707318C>G	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.950G>C	16.37:g.50707318C>G						SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	p.*317S	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	1121	-			0					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Nonstop_Mutation	SNP	ENST00000330943.4	37	c.950G>C	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	8.410	0.844051	0.16963	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	.	.	.	5.67	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7241	0.28750	0.0:0.6263:0.0:0.3737	.	.	.	.	S	317;153	.	.	X	-	2	2	SNX20	49264819	0.948000	0.32251	0.043000	0.18650	0.044000	0.14063	1.073000	0.30691	0.755000	0.32990	0.561000	0.74099	TGA		0.572	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		22	105	0	0	0	1	0	22	105				
HIP1	3092	broad.mit.edu	37	7	75168658	75168658	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:75168658C>T	ENST00000336926.6	-	30	3072	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	HIP1_ENST00000434438.2_Missense_Mutation_p.E965K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1016					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCCCAGCCCTCAGCAACACCA	0.532			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3046-3048)Gag>Aag		huntingtin interacting protein 1							312.0	296.0	302.0					7																	75168658		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75168658C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.3046G>A	7.37:g.75168658C>T	ENSP00000336747:p.Glu1016Lys					HIP1_ENST00000434438.2_Missense_Mutation_p.E965K	p.E1016K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			30	3072	-			1016					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.3046G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579037	0.96565	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15718	2.53;2.4	5.31	5.31	0.75309	.	0.377447	0.28821	N	0.014035	T	0.31857	0.0810	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.63880	0.972;0.993	P;P	0.61722	0.694;0.893	T	0.01541	-1.1329	10	0.13853	T	0.58	-30.6877	17.8985	0.88896	0.0:1.0:0.0:0.0	.	965;1016	E7ES17;O00291	.;HIP1_HUMAN	K	1016;965	ENSP00000336747:E1016K;ENSP00000410300:E965K	ENSP00000336747:E1016K	E	-	1	0	HIP1	75006594	1.000000	0.71417	0.965000	0.40720	0.957000	0.61999	5.725000	0.68507	2.652000	0.90054	0.655000	0.94253	GAG		0.532	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		23	457	0	0	0	1	0	23	457				
HIP1	3092	broad.mit.edu	37	7	75216085	75216085	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:75216085C>G	ENST00000336926.6	-	5	477	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	HIP1_ENST00000434438.2_Missense_Mutation_p.E151Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	151	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGTGGTACTCCATCTTGGTT	0.572			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(451-453)Gag>Cag		huntingtin interacting protein 1							120.0	99.0	107.0					7																	75216085		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75216085C>G	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.451G>C	7.37:g.75216085C>G	ENSP00000336747:p.Glu151Gln					HIP1_ENST00000434438.2_Missense_Mutation_p.E151Q	p.E151Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			5	477	-			151			ENTH.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.451G>C	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056942	0.93846	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.32272	1.46;1.46;1.46	5.66	5.66	0.87406	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.52126	1.63	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.72982	0.978;0.979	T	0.34204	-0.9838	10	0.39692	T	0.17	-31.6008	18.3225	0.90243	0.0:1.0:0.0:0.0	.	151;151	E7ES17;O00291	.;HIP1_HUMAN	Q	151;151;122	ENSP00000336747:E151Q;ENSP00000410300:E151Q;ENSP00000414280:E122Q	ENSP00000336747:E151Q	E	-	1	0	HIP1	75054021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.566000	0.60843	2.663000	0.90544	0.555000	0.69702	GAG		0.572	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		6	18	0	0	0	1	0	6	18				
JMJD1C	221037	broad.mit.edu	37	10	64967345	64967345	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:64967345C>G	ENST00000399262.2	-	10	4302	c.4084G>C	c.(4084-4086)Gac>Cac	p.D1362H	JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1143H|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1180H|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1143H	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1362					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGAACACTGTCTGAATTCACA	0.413																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4084-4086)Gac>Cac		jumonji domain containing 1C							139.0	130.0	133.0					10																	64967345		1867	4112	5979	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967345C>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4084G>C	10.37:g.64967345C>G	ENSP00000382204:p.Asp1362His					JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1180H|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1143H|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1143H	p.D1362H	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4302	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1362					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.4084G>C	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.89|15.89	2.966558|2.966558	0.53507|0.53507	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921|ENST00000327520	T;T;T;T|.	0.55760|.	0.84;0.5;2.38;0.84|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.206554|.	0.48767|.	D|.	0.000165|.	T|T	0.70509|0.70509	0.3232|0.3232	L|L	0.47716|0.47716	1.5|1.5	0.42529|0.42529	D|D	0.993031|0.993031	P;P;P|.	0.48998|.	0.918;0.918;0.918|.	B;P;B|.	0.47645|.	0.429;0.553;0.429|.	T|T	0.64875|0.64875	-0.6304|-0.6304	9|5	.|.	.|.	.|.	-5.3212|-5.3212	20.3593|20.3593	0.98849|0.98849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903;1362;1180|.	A6PW35;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	H|H	1362;1143;1143;1180|47	ENSP00000382204:D1362H;ENSP00000384990:D1143H;ENSP00000382195:D1143H;ENSP00000444682:D1180H|.	.|.	D|Q	-|-	1|3	0|2	JMJD1C|JMJD1C	64637351|64637351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	3.790000|3.790000	0.55461|0.55461	2.807000|2.807000	0.96579|0.96579	0.591000|0.591000	0.81541|0.81541	GAC|CAG		0.413	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		22	124	0	0	0	1	0	22	124				
ACTN2	88	broad.mit.edu	37	1	236920804	236920804	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:236920804G>C	ENST00000366578.4	+	18	2339	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q	ACTN2_ENST00000542672.1_Missense_Mutation_p.E725Q|ACTN2_ENST00000546208.1_Missense_Mutation_p.E219Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	725					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)			TGTTGGATGGGAGCTGCTGCT	0.488																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(2173-2175)Gag>Cag		actinin, alpha 2							138.0	124.0	129.0					1																	236920804		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.chr1:236920804G>C	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.2173G>C	1.37:g.236920804G>C	ENSP00000355537:p.Glu725Gln					ACTN2_ENST00000546208.1_Missense_Mutation_p.E219Q|ACTN2_ENST00000542672.1_Missense_Mutation_p.E725Q	p.E725Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		18	2339	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	725					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2173G>C	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849322	0.91277	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.50001	0.76;0.76;0.76	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.982	D;D;D;D	0.91635	0.999;0.994;0.999;0.989	T	0.78658	-0.2118	10	0.87932	D	0	.	19.9025	0.96993	0.0:0.0:1.0:0.0	.	510;725;495;725	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	Q	725;725;219;494	ENSP00000443495:E725Q;ENSP00000355537:E725Q;ENSP00000438384:E219Q	ENSP00000355537:E725Q	E	+	1	0	ACTN2	234987427	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.835000	0.99442	2.722000	0.93159	0.655000	0.94253	GAG		0.488	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		14	71	0	0	0	1	0	14	71				
ZNF385D	79750	broad.mit.edu	37	3	21478518	21478518	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:21478518C>A	ENST00000281523.2	-	5	1135	c.617G>T	c.(616-618)tGt>tTt	p.C206F	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	206						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCATAGCGAACAGTAAAGAAG	0.478																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(616-618)tGt>tTt		zinc finger protein 385D							183.0	151.0	162.0					3																	21478518		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478518C>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.617G>T	3.37:g.21478518C>A	ENSP00000281523:p.Cys206Phe					ZNF385D_ENST00000494118.1_5'UTR	p.C206F	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	1135	-			206						Missense_Mutation	SNP	ENST00000281523.2	37	c.617G>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037763	0.93630	.	.	ENSG00000151789	ENST00000281523	D	0.98947	-5.26	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99780	1.1027	10	0.87932	D	0	-13.9867	20.3822	0.98936	0.0:1.0:0.0:0.0	.	206	Q9H6B1	Z385D_HUMAN	F	206	ENSP00000281523:C206F	ENSP00000281523:C206F	C	-	2	0	ZNF385D	21453522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.742000	0.85008	2.891000	0.99171	0.655000	0.94253	TGT		0.478	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		21	127	1	0	1.64293e-13	1	1.72982e-13	21	127				
NUP93	9688	broad.mit.edu	37	16	56865890	56865890	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56865890G>A	ENST00000308159.5	+	11	1343	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	NUP93_ENST00000564887.1_Missense_Mutation_p.D285N|NUP93_ENST00000542526.1_Missense_Mutation_p.D285N|NUP93_ENST00000569842.1_Missense_Mutation_p.D408N	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	408					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAAGTGGCGGACAAAACTGA	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(853-855)Gac>Aac		nucleoporin 93kDa							141.0	121.0	128.0					16																	56865890		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56865890G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1222G>A	16.37:g.56865890G>A	ENSP00000310668:p.Asp408Asn					NUP93_ENST00000569842.1_Missense_Mutation_p.D408N|NUP93_ENST00000308159.5_Missense_Mutation_p.D408N|NUP93_ENST00000542526.1_Missense_Mutation_p.D285N	p.D285N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			9	1482	+			408					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.853G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038886	0.75617	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.42900	0.96;0.96	5.79	5.79	0.91817	.	0.088412	0.85682	D	0.000000	T	0.40839	0.1133	L	0.47716	1.5	0.80722	D	1	B	0.25206	0.12	B	0.31016	0.123	T	0.16512	-1.0400	10	0.16420	T	0.52	-24.1028	18.2119	0.89873	0.0:0.0:1.0:0.0	.	408	Q8N1F7	NUP93_HUMAN	N	408;285	ENSP00000310668:D408N;ENSP00000440235:D285N	ENSP00000310668:D408N	D	+	1	0	NUP93	55423391	1.000000	0.71417	0.967000	0.41034	0.696000	0.40369	9.837000	0.99465	2.746000	0.94184	0.655000	0.94253	GAC		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		15	115	0	0	0	1	0	15	115				
PIEZO1	9780	broad.mit.edu	37	16	88780994	88780994	+	IGR	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:88780994G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Splice_Site|CTU2_ENST00000567949.1_Splice_Site|CTU2_ENST00000378384.3_Splice_Site|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Splice_Site	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TCTGCTTGCAGACAGTGCCAC	0.667																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.e12-1		cytosolic thiouridylase subunit 2 homolog (S. pombe)							43.0	45.0	44.0					16																	88780994		2191	4293	6484	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88780994G>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780994G>A						CTU2_ENST00000378384.3_Splice_Site|CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site				Q2VPK5	CTU2_HUMAN			12	1423	+								A6NHT9|A7E2B7|Q0KKZ9	Splice_Site	SNP	ENST00000301015.9	37		CCDS54058.1	.	.	.	.	.	.	.	.	.	.	G	9.302	1.053454	0.19907	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	.	.	.	4.3	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9235	0.47178	0.0:0.1908:0.8091:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTU2	87308495	1.000000	0.71417	0.988000	0.46212	0.262000	0.26303	3.272000	0.51616	2.101000	0.63845	0.448000	0.29417	.		0.667	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		13	64	0	0	0	1	0	13	64				
CDC27	996	broad.mit.edu	37	17	45229206	45229206	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:45229206G>A	ENST00000066544.3	-	9	1129	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	CDC27_ENST00000531206.1_Missense_Mutation_p.L352F|CDC27_ENST00000527547.1_Missense_Mutation_p.L346F|CDC27_ENST00000446365.2_Missense_Mutation_p.L285F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	346					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTTGTGCAAGAATTGGAGTT	0.358																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1036-1038)Ctt>Ttt		cell division cycle 27							128.0	138.0	134.0					17																	45229206		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45229206G>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1036C>T	17.37:g.45229206G>A	ENSP00000066544:p.Leu346Phe					CDC27_ENST00000446365.2_Missense_Mutation_p.L285F|CDC27_ENST00000527547.1_Missense_Mutation_p.L346F|CDC27_ENST00000531206.1_Missense_Mutation_p.L352F	p.L346F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			9	1129	-			346					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1036C>T	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673242	0.47781	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.68479	-0.33;-0.22;-0.01;-0.32	5.51	5.51	0.81932	.	0.064060	0.64402	D	0.000005	T	0.41627	0.1167	N	0.08118	0	0.28348	N	0.921014	B;P;P;B	0.37864	0.347;0.545;0.61;0.104	B;B;B;B	0.31812	0.063;0.104;0.136;0.032	T	0.37126	-0.9719	10	0.05959	T	0.93	-20.4548	16.97	0.86296	0.0:0.0:1.0:0.0	.	285;346;352;346	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	F	346;352;285;346	ENSP00000066544:L346F;ENSP00000434614:L352F;ENSP00000392802:L285F;ENSP00000437339:L346F	ENSP00000066544:L346F	L	-	1	0	CDC27	42584205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.695000	0.91298	2.611000	0.88343	0.579000	0.79373	CTT		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			22	168	0	0	0	1	0	22	168				
CNOT4	4850	broad.mit.edu	37	7	135106925	135106925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:135106925G>A	ENST00000315544.5	-	3	631	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	CNOT4_ENST00000361528.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000428680.2_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.Q118*	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	118	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCTAGGCGCTGAGATAAACCT	0.368																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(352-354)Cag>Tag		CCR4-NOT transcription complex, subunit 4							142.0	133.0	136.0					7																	135106925		1863	4094	5957	SO:0001587	stop_gained	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106925G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.352C>T	7.37:g.135106925G>A	ENSP00000326731:p.Gln118*					CNOT4_ENST00000423368.2_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.Q118*	p.Q118*	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			3	631	-			118			RRM.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Nonsense_Mutation	SNP	ENST00000315544.5	37	c.352C>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	37	6.474571	0.97594	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.6003	19.9133	0.97031	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000262563:Q118X	Q	-	1	0	CNOT4	134757465	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	CAG		0.368	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		14	77	0	0	0	1	0	14	77				
CCKBR	887	broad.mit.edu	37	11	6292373	6292373	+	Missense_Mutation	SNP	G	G	A	rs200262698		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6292373G>A	ENST00000334619.2	+	5	1137	c.944G>A	c.(943-945)gGa>gAa	p.G315E	CCKBR_ENST00000532715.1_Missense_Mutation_p.G231E|CCKBR_ENST00000525462.1_Missense_Mutation_p.G384E|CCKBR_ENST00000532396.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	315					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCTGGGCCGGGATCCGGCTCC	0.632																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1150-1152)gGa>gAa		cholecystokinin B receptor	Pentagastrin(DB00183)						59.0	60.0	60.0					11																	6292373		2199	4292	6491	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292373G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.944G>A	11.37:g.6292373G>A	ENSP00000335544:p.Gly315Glu					CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.G231E|CCKBR_ENST00000334619.2_Missense_Mutation_p.G315E	p.G384E			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1154	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	315					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.1151G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	5.330	0.246255	0.10130	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.76186	0.28;-1.0;0.22	4.77	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.255939	0.39687	N	0.001281	T	0.57740	0.2074	L	0.28192	0.835	0.09310	N	1	P;B;B	0.34587	0.458;0.032;0.04	B;B;B	0.38880	0.284;0.038;0.102	T	0.50154	-0.8861	10	0.02654	T	1	.	10.5807	0.45255	0.0:0.1439:0.7066:0.1494	.	384;249;315	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	E	315;231;384	ENSP00000335544:G315E;ENSP00000432079:G231E;ENSP00000435534:G384E	ENSP00000335544:G315E	G	+	2	0	CCKBR	6248949	0.999000	0.42202	0.004000	0.12327	0.013000	0.08279	4.141000	0.58038	0.596000	0.29794	0.551000	0.68910	GGA		0.632	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		13	116	0	0	0	1	0	13	116				
PPP4R1	9989	broad.mit.edu	37	18	9584724	9584724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:9584724G>A	ENST00000400556.3	-	7	761	c.688C>T	c.(688-690)Cga>Tga	p.R230*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.R213*|PPP4R1_ENST00000580583.1_5'UTR|RP11-881L2.1_ENST00000584109.1_RNA	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	230					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AATACCTTTCGAACGTGAAAC	0.363																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(688-690)Cga>Tga		protein phosphatase 4, regulatory subunit 1							50.0	46.0	47.0					18																	9584724		1855	4088	5943	SO:0001587	stop_gained	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9584724G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.688C>T	18.37:g.9584724G>A	ENSP00000383402:p.Arg230*					PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.R213*|PPP4R1_ENST00000580583.1_5'UTR	p.R230*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			7	761	-			230					Q99774|Q9UNQ7	Nonsense_Mutation	SNP	ENST00000400556.3	37	c.688C>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142877	0.94560	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	.	.	.	5.19	3.4	0.38934	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.7977	10.1207	0.42618	0.071:0.0:0.7918:0.1372	.	.	.	.	X	230;213;141	.	.	R	-	1	2	PPP4R1	9574724	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.195000	0.72088	0.762000	0.33152	-0.218000	0.12543	CGA		0.363	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		6	29	0	0	0	1	0	6	29				
IRS2	8660	broad.mit.edu	37	13	110434679	110434679	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:110434679C>G	ENST00000375856.3	-	1	4236	c.3722G>C	c.(3721-3723)aGa>aCa	p.R1241T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1241					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			AGAGGTCTCTCTGCGCATGGG	0.731																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3721-3723)aGa>aCa		insulin receptor substrate 2							15.0	16.0	16.0					13																	110434679		2082	4137	6219	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434679C>G	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3722G>C	13.37:g.110434679C>G	ENSP00000365016:p.Arg1241Thr						p.R1241T	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4236	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1241					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3722G>C	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440443	0.63067	.	.	ENSG00000185950	ENST00000375856	T	0.56103	0.48	3.85	3.0	0.34707	.	0.211692	0.39544	U	0.001331	T	0.64962	0.2646	L	0.61218	1.895	0.36126	D	0.845781	D	0.63880	0.993	D	0.68483	0.958	T	0.71721	-0.4507	10	0.72032	D	0.01	-12.7665	9.4461	0.38699	0.0:0.8998:0.0:0.1002	.	1241	Q9Y4H2	IRS2_HUMAN	T	1241	ENSP00000365016:R1241T	ENSP00000365016:R1241T	R	-	2	0	IRS2	109232680	1.000000	0.71417	0.970000	0.41538	0.759000	0.43091	6.822000	0.75277	0.819000	0.34492	0.462000	0.41574	AGA		0.731	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		6	38	0	0	0	1	0	6	38				
MID1	4281	broad.mit.edu	37	X	10463668	10463668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:10463668G>A	ENST00000317552.4	-	4	1220	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	MID1_ENST00000453318.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380785.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380787.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380779.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380780.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380782.2_Nonsense_Mutation_p.Q274*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	274					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						CGTCTTTGCTGAATGATCTCA	0.388																																						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.(820-822)Cag>Tag		midline 1 (Opitz/BBB syndrome)							238.0	181.0	200.0					X																	10463668		2203	4300	6503	SO:0001587	stop_gained	4281				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:10463668G>A	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.820C>T	X.37:g.10463668G>A	ENSP00000312678:p.Gln274*					MID1_ENST00000453318.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380782.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380779.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380780.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380787.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380785.1_Nonsense_Mutation_p.Q274*	p.Q274*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			4	1220	-			274					B2RCG2|O75361|Q9BZX5	Nonsense_Mutation	SNP	ENST00000317552.4	37	c.820C>T	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	G	40	8.056892	0.98632	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.2929	0.90136	0.0:0.0:1.0:0.0	.	.	.	.	X	274;274;274;274;274;274;274;224;274	.	ENSP00000312678:Q274X	Q	-	1	0	MID1	10423668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.762000	0.91711	2.360000	0.80028	0.600000	0.82982	CAG		0.388	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			17	127	0	0	0	1	0	17	127				
SYDE1	85360	broad.mit.edu	37	19	15224386	15224386	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:15224386G>A	ENST00000342784.2	+	8	1851	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q	SYDE1_ENST00000600252.1_Missense_Mutation_p.R264Q|SYDE1_ENST00000600440.1_Missense_Mutation_p.R540Q	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	607					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCCTGCCCCGACAATCTCCA	0.617																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(790-792)cGa>cAa		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							111.0	130.0	124.0					19																	15224386		2203	4300	6503	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224386G>A	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1820G>A	19.37:g.15224386G>A	ENSP00000341489:p.Arg607Gln					SYDE1_ENST00000600440.1_Missense_Mutation_p.R540Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.R607Q	p.R264Q			Q6ZW31	SYDE1_HUMAN			5	2433	+			607					Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.791G>A	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	2.113	-0.403202	0.04865	.	.	ENSG00000105137	ENST00000342784	T	0.09163	3.01	5.52	3.37	0.38596	.	0.977889	0.08386	N	0.953788	T	0.05502	0.0145	N	0.08118	0	0.09310	N	0.99999	B;B;B	0.28933	0.051;0.228;0.051	B;B;B	0.24848	0.056;0.046;0.056	T	0.44143	-0.9347	10	0.16896	T	0.51	.	7.7858	0.29091	0.0:0.7451:0.1665:0.0884	.	540;540;607	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	Q	607	ENSP00000341489:R607Q	ENSP00000341489:R607Q	R	+	2	0	SYDE1	15085386	0.194000	0.23325	0.009000	0.14445	0.000000	0.00434	3.458000	0.53014	0.707000	0.31934	-1.359000	0.01217	CGA		0.617	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		5	263	0	0	0	1	0	5	263				
CACNA1G	8913	broad.mit.edu	37	17	48676880	48676880	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:48676880C>T	ENST00000359106.5	+	17	3350	c.3350C>T	c.(3349-3351)cCc>cTc	p.P1117L	CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1094L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P1094L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1094L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P1117L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1117L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1117					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCGTGCACCCAGCCTGAAG	0.682																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3280-3282)cCc>cTc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						18.0	25.0	23.0					17																	48676880		2023	4168	6191	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48676880C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3350C>T	17.37:g.48676880C>T	ENSP00000352011:p.Pro1117Leu					CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1094L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1094L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P1117L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1094L	p.P1094L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3653	+	Breast(11;6.7e-17)		1117					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3281C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.378321	0.82682	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92	4.47	4.47	0.54385	.	0.571555	0.18998	N	0.125408	D	0.94928	0.8360	M	0.71206	2.165	0.80722	D	1	B;P;B;P;P;P;B;P;B;D;D;P;P;P;B;P;P;B;P;P;B;P;P;B;B;P	0.62365	0.376;0.862;0.425;0.507;0.923;0.892;0.425;0.716;0.425;0.974;0.991;0.909;0.693;0.653;0.425;0.852;0.726;0.404;0.871;0.929;0.321;0.852;0.822;0.284;0.048;0.821	B;P;B;B;P;B;B;P;B;P;P;P;P;B;B;P;B;B;P;P;B;P;B;B;B;P	0.59546	0.162;0.703;0.193;0.358;0.58;0.424;0.23;0.493;0.23;0.787;0.859;0.839;0.493;0.253;0.23;0.58;0.342;0.208;0.48;0.764;0.122;0.58;0.424;0.153;0.043;0.543	D	0.95381	0.8473	10	0.66056	D	0.02	.	17.3164	0.87225	0.0:1.0:0.0:0.0	.	1094;1117;1117;1117;1117;1117;1117;1117;1117;1117;1117;1094;1117;1117;1117;1117;1117;1094;1117;1094;1094;1094;1094;1117;1094;1117	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	L	1094;1094;1117;1094;1094;1094;1117;1117;1094;1117;1117;1117;1117;1117;1117;1094;1117;1117;1117;1117;1094;1117;1117;1117;1117;1117	ENSP00000353990:P1094L;ENSP00000339302:P1094L;ENSP00000392390:P1117L;ENSP00000347078:P1094L;ENSP00000409759:P1094L;ENSP00000425522:P1094L;ENSP00000426261:P1117L;ENSP00000425451:P1117L;ENSP00000422407:P1094L;ENSP00000426814:P1117L;ENSP00000427238:P1117L;ENSP00000423112:P1117L;ENSP00000420918:P1117L;ENSP00000426172:P1117L;ENSP00000423045:P1117L;ENSP00000427173:P1094L;ENSP00000426098:P1117L;ENSP00000425698:P1117L;ENSP00000426232:P1117L;ENSP00000423317:P1117L;ENSP00000350979:P1094L;ENSP00000352011:P1117L;ENSP00000414388:P1117L;ENSP00000423155:P1117L;ENSP00000422268:P1117L;ENSP00000421518:P1117L	ENSP00000339302:P1094L	P	+	2	0	CACNA1G	46031879	0.998000	0.40836	0.933000	0.37362	0.915000	0.54546	3.210000	0.51129	2.322000	0.78497	0.561000	0.74099	CCC		0.682	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	17	0	0	0	1	0	4	17				
OR2S2	56656	broad.mit.edu	37	9	35957488	35957488	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:35957488G>A	ENST00000341959.2	-	1	663	c.608C>T	c.(607-609)aCg>aTg	p.T203M		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	203					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GATCACATTCGTCACCTCCAT	0.483																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(607-609)aCg>aTg		olfactory receptor, family 2, subfamily S, member 2							113.0	109.0	110.0					9																	35957488		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957488G>A	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.608C>T	9.37:g.35957488G>A	ENSP00000344040:p.Thr203Met						p.T203M	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	663	-			203					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.608C>T	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	g	7.733	0.699648	0.15106	.	.	ENSG00000122718	ENST00000341959	T	0.00107	8.72	4.17	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.582086	0.15419	N	0.263331	T	0.00109	0.0003	N	0.16903	0.455	0.09310	N	1	D	0.57257	0.979	P	0.49047	0.599	T	0.47302	-0.9128	10	0.46703	T	0.11	.	4.6528	0.12603	0.1995:0.1793:0.6213:0.0	.	203	Q9NQN1	OR2S1_HUMAN	M	203	ENSP00000344040:T203M	ENSP00000344040:T203M	T	-	2	0	OR2S2	35947488	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.417000	0.21214	0.301000	0.22738	-0.119000	0.15052	ACG		0.483	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		50	119	0	0	0	1	0	50	119				
AHNAK2	113146	broad.mit.edu	37	14	105420387	105420387	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105420387C>G	ENST00000333244.5	-	7	1520	c.1401G>C	c.(1399-1401)ttG>ttC	p.L467F	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	467						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTGTCTCTCAAGGACAGTC	0.542																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1399-1401)ttG>ttC		AHNAK nucleoprotein 2							51.0	56.0	54.0					14																	105420387		2019	4178	6197	SO:0001583	missense	113146					nucleus		g.chr14:105420387C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1401G>C	14.37:g.105420387C>G	ENSP00000353114:p.Leu467Phe						p.L467F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1520	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	467					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1401G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.174151	0.38413	.	.	ENSG00000185567	ENST00000333244	T	0.03635	3.86	5.1	0.191	0.15130	.	.	.	.	.	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.40213	-0.9575	9	0.51188	T	0.08	.	0.5521	0.00664	0.2346:0.2566:0.2881:0.2208	.	467	Q8IVF2	AHNK2_HUMAN	F	467	ENSP00000353114:L467F	ENSP00000353114:L467F	L	-	3	2	AHNAK2	104491432	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.797000	0.04570	0.226000	0.20979	0.555000	0.69702	TTG		0.542	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	52	0	0	0	1	0	10	52				
HCN1	348980	broad.mit.edu	37	5	45262058	45262058	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:45262058C>T	ENST00000303230.4	-	8	2695	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	880					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTCTGCGTCTGGGTCTGTG	0.483																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2638-2640)Gac>Aac		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							92.0	107.0	102.0					5																	45262058		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262058C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2638G>A	5.37:g.45262058C>T	ENSP00000307342:p.Asp880Asn						p.D880N	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2695	-			880						Missense_Mutation	SNP	ENST00000303230.4	37	c.2638G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737995	0.49045	.	.	ENSG00000164588	ENST00000303230	D	0.97529	-4.42	5.01	5.01	0.66863	.	0.649181	0.14437	N	0.319637	D	0.93625	0.7964	N	0.14661	0.345	0.51482	D	0.999922	B	0.20780	0.048	B	0.20767	0.031	D	0.89247	0.3588	10	0.54805	T	0.06	.	18.6982	0.91610	0.0:1.0:0.0:0.0	.	880	O60741	HCN1_HUMAN	N	880	ENSP00000307342:D880N	ENSP00000307342:D880N	D	-	1	0	HCN1	45297815	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.378000	0.66190	2.487000	0.83934	0.651000	0.88453	GAC		0.483	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		23	170	0	0	0	1	0	23	170				
TMTC4	84899	broad.mit.edu	37	13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:101277794G>A	ENST00000376234.3	-	14	1963	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	TMTC4_ENST00000342624.5_Missense_Mutation_p.R611C|TMTC4_ENST00000328767.5_Missense_Mutation_p.R481C|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	592						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTACCAGACGCCCGAGGTTG	0.458																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1831-1833)Cgt>Tgt		transmembrane and tetratricopeptide repeat containing 4							119.0	103.0	108.0					13																	101277794		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101277794G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1774C>T	13.37:g.101277794G>A	ENSP00000365408:p.Arg592Cys					TMTC4_ENST00000376234.3_Missense_Mutation_p.R592C|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.R481C	p.R611C	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			15	2089	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		592					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1831C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780542	0.90195	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.59906	0.23;0.23;0.23	5.61	4.74	0.60224	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	N	0.21373	0.66	0.80722	D	1	D;D;D;P	0.89917	0.998;0.999;1.0;0.909	D;D;D;B	0.69479	0.953;0.94;0.964;0.174	T	0.67837	-0.5567	10	0.56958	D	0.05	.	16.0506	0.80760	0.0:0.0:0.8647:0.1353	.	481;592;592;611	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	C	592;611;481	ENSP00000365408:R592C;ENSP00000343871:R611C;ENSP00000365409:R481C	ENSP00000365409:R481C	R	-	1	0	TMTC4	100075795	1.000000	0.71417	0.977000	0.42913	0.986000	0.74619	6.457000	0.73505	1.457000	0.47850	0.655000	0.94253	CGT		0.458	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		12	87	0	0	0	1	0	12	87				
NIPBL	25836	broad.mit.edu	37	5	37059248	37059248	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059248C>T	ENST00000282516.8	+	44	8165	c.7666C>T	c.(7666-7668)Ctt>Ttt	p.L2556F	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2556F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2556					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTGAAGAATCTTTGTGGATT	0.353																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7666-7668)Ctt>Ttt		Nipped-B homolog (Drosophila)							64.0	70.0	68.0					5																	37059248		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37059248C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7666C>T	5.37:g.37059248C>T	ENSP00000282516:p.Leu2556Phe					NIPBL_ENST00000448238.2_Missense_Mutation_p.L2556F	p.L2556F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		44	8165	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2556					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7666C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534555	0.85812	.	.	ENSG00000164190	ENST00000282516;ENST00000448238;ENST00000513819	D;D;T	0.94417	-3.42;-3.41;-1.35	5.85	5.85	0.93711	.	0.150572	0.47093	D	0.000245	D	0.96889	0.8984	M	0.71581	2.175	0.58432	D	0.999999	D;D;D	0.71674	0.997;0.997;0.998	P;P;D	0.65010	0.854;0.854;0.931	D	0.96672	0.9497	10	0.62326	D	0.03	-4.4134	20.1542	0.98100	0.0:1.0:0.0:0.0	.	2556;2556;2556	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	F	2556;2556;82	ENSP00000282516:L2556F;ENSP00000406266:L2556F;ENSP00000421504:L82F	ENSP00000282516:L2556F	L	+	1	0	NIPBL	37095005	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.463000	0.80869	2.767000	0.95098	0.563000	0.77884	CTT		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		6	50	0	0	0	1	0	6	50				
CDKN2B-AS1	100048912	broad.mit.edu	37	9	22029493	22029493	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:22029493G>A	ENST00000404796.2	+	5	522	c.409G>A	c.(409-411)Gat>Aat	p.D137N	CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA														p.0(1)|p.0?(1)									ATGCTGTGATGATTCCTCAGC	0.463																																						ENST00000404796.2																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)								c.(409-411)Gat>Aat									316.0	290.0	298.0					9																	22029493		876	1991	2867	SO:0001583	missense	100048912							g.chr9:22029493G>A																												ENST00000404796.2:c.409G>A	9.37:g.22029493G>A	ENSP00000385916:p.Asp137Asn					CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA	p.D137N							5	522	+									Missense_Mutation	SNP	ENST00000404796.2	37	c.409G>A																																																																																					0.463	RP11-145E5.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000445913.1			21	310	0	0	0	1	0	21	310				
COL18A1	80781	broad.mit.edu	37	21	46900630	46900630	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:46900630C>T	ENST00000359759.4	+	12	2735	c.2714C>T	c.(2713-2715)cCt>cTt	p.P905L	COL18A1_ENST00000400337.2_Missense_Mutation_p.P490L|COL18A1_ENST00000355480.5_Missense_Mutation_p.P670L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	905	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGAGGCTTCCCTGGACCTCCC	0.697																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2713-2715)cCt>cTt		collagen, type XVIII, alpha 1							26.0	31.0	30.0					21																	46900630		1938	4120	6058	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46900630C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2714C>T	21.37:g.46900630C>T	ENSP00000352798:p.Pro905Leu					COL18A1_ENST00000355480.5_Missense_Mutation_p.P670L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P490L	p.P905L			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	12	2735	+			905			Triple-helical region 3 (COL3).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2714C>T		.	.	.	.	.	.	.	.	.	.	C	13.36	2.215423	0.39102	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.93488	-3.21;-3.23;-3.13	3.8	3.8	0.43715	.	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	M	0.91459	3.21	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	D	0.96259	0.9189	10	0.39692	T	0.17	.	11.5759	0.50860	0.0:1.0:0.0:0.0	.	905;670;490	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	L	490;490;670;905;905	ENSP00000383191:P490L;ENSP00000347665:P670L;ENSP00000352798:P905L	ENSP00000347665:P670L	P	+	2	0	COL18A1	45725058	0.992000	0.36948	0.895000	0.35142	0.011000	0.07611	4.091000	0.57700	1.866000	0.54105	0.555000	0.69702	CCT		0.697	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			10	59	0	0	0	1	0	10	59				
ASXL2	55252	broad.mit.edu	37	2	25982412	25982412	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:25982412G>C	ENST00000435504.4	-	9	1171	c.878C>G	c.(877-879)tCa>tGa	p.S293*	ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S33*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S265*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S33*			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	293					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGGACTGAAAATGTGTG	0.423																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(877-879)tCa>tGa		additional sex combs like 2 (Drosophila)							202.0	195.0	197.0					2																	25982412		1949	4154	6103	SO:0001587	stop_gained	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25982412G>C			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.878C>G	2.37:g.25982412G>C	ENSP00000391447:p.Ser293*					ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S33*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S265*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S33*	p.S293*			Q76L83	ASXL2_HUMAN			9	1171	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		293					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	ENST00000435504.4	37	c.878C>G		.	.	.	.	.	.	.	.	.	.	G	47	12.984840	0.99711	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	5.73	5.73	0.89815	.	0.144002	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.8178	18.4457	0.90682	0.0:0.0:1.0:0.0	.	.	.	.	X	293;265;33;33	.	ENSP00000272341:S33X	S	-	2	0	ASXL2	25835916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.844000	0.86867	2.700000	0.92200	0.650000	0.86243	TCA		0.423	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		22	131	0	0	0	1	0	22	131				
TET3	200424	broad.mit.edu	37	2	74274965	74274965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:74274965C>T	ENST00000409262.3	+	1	1516	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	506					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGAAGTGCAGGCTCATCC	0.627																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1516-1518)Cag>Tag		tet methylcytosine dioxygenase 3							23.0	27.0	26.0					2																	74274965		1997	4172	6169	SO:0001587	stop_gained	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274965C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1516C>T	2.37:g.74274965C>T	ENSP00000386869:p.Gln506*						p.Q506*	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1516	+			506					A6NEI3|Q86Z24|Q8TBM9	Nonsense_Mutation	SNP	ENST00000409262.3	37	c.1516C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602327	0.46423	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	13.6693	0.62416	0.0:1.0:0.0:0.0	.	.	.	.	X	548;506;506	.	ENSP00000233310:Q506X	Q	+	1	0	TET3	74128473	0.982000	0.34865	0.909000	0.35828	0.009000	0.06853	2.486000	0.45259	2.686000	0.91538	0.591000	0.81541	CAG		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			4	22	0	0	0	1	0	4	22				
PARP14	54625	broad.mit.edu	37	3	122446757	122446757	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:122446757C>G	ENST00000474629.2	+	16	5306	c.5040C>G	c.(5038-5040)ctC>ctG	p.L1680L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1680	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAAGCAACTCTTCCATGGGA	0.478																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(5038-5040)ctC>ctG		poly (ADP-ribose) polymerase family, member 14							70.0	70.0	70.0					3																	122446757		1967	4142	6109	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122446757C>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5040C>G	3.37:g.122446757C>G							p.L1680L	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	16	5306	+			1680			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.5040C>G	CCDS46894.1																																																																																				0.478	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		8	53	0	0	0	1	0	8	53				
NFKBID	84807	broad.mit.edu	37	19	36386983	36386983	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:36386983G>A	ENST00000396901.1	-	9	1078	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	NFKBID_ENST00000606253.1_Missense_Mutation_p.R169C|NFKBID_ENST00000352614.2_Missense_Mutation_p.R321C|NFKBID_ENST00000585544.1_5'Flank	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	169					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TCGGAAGGGCGCATAGCAACG	0.622																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(505-507)Cgc>Tgc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							104.0	124.0	118.0					19																	36386983		2102	4207	6309	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36386983G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.505C>T	19.37:g.36386983G>A	ENSP00000380109:p.Arg169Cys					NFKBID_ENST00000606253.1_Missense_Mutation_p.R169C|NFKBID_ENST00000352614.2_Missense_Mutation_p.R321C	p.R169C	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			9	1078	-			169					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.505C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	9.311	1.055572	0.19907	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.56444	0.46;1.07	5.04	-1.04	0.10068	Ankyrin repeat-containing domain (3);	0.785725	0.12398	N	0.472400	T	0.28632	0.0709	N	0.12182	0.205	0.39575	D	0.969334	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.05468	-1.0883	10	0.52906	T	0.07	.	4.9158	0.13846	0.3787:0.1494:0.4719:0.0	.	321;169	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	C	321;169	ENSP00000252985:R321C;ENSP00000380109:R169C	ENSP00000252985:R321C	R	-	1	0	NFKBID	41078823	0.022000	0.18835	0.144000	0.22314	0.442000	0.32017	-0.036000	0.12185	-0.111000	0.12001	0.491000	0.48974	CGC		0.622	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		4	141	0	0	0	1	0	4	141				
TSKS	60385	broad.mit.edu	37	19	50247650	50247650	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:50247650G>A	ENST00000246801.3	-	8	1281	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	TSKS_ENST00000358830.3_Missense_Mutation_p.S200L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	400					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGACACTGCTGACCGCTCCAC	0.572																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1198-1200)tCa>tTa		testis-specific serine kinase substrate							67.0	60.0	62.0					19																	50247650		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50247650G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1199C>T	19.37:g.50247650G>A	ENSP00000246801:p.Ser400Leu					TSKS_ENST00000358830.3_Missense_Mutation_p.S200L	p.S400L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	8	1281	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	400					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1199C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266881	0.80469	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.36340	1.26;1.26	4.99	4.99	0.66335	.	0.000000	0.45867	D	0.000333	T	0.46639	0.1403	L	0.29908	0.895	0.35330	D	0.78557	D	0.61080	0.989	D	0.75020	0.985	T	0.55730	-0.8095	10	0.51188	T	0.08	-9.5074	13.6499	0.62304	0.0:0.0:1.0:0.0	.	400	Q9UJT2	TSKS_HUMAN	L	400;200	ENSP00000246801:S400L;ENSP00000351691:S200L	ENSP00000246801:S400L	S	-	2	0	TSKS	54939462	0.994000	0.37717	0.973000	0.42090	0.941000	0.58515	4.323000	0.59221	2.592000	0.87571	0.555000	0.69702	TCA		0.572	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		14	86	0	0	0	1	0	14	86				
ZNF142	7701	broad.mit.edu	37	2	219507517	219507517	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:219507517G>A	ENST00000449707.1	-	8	4143	c.3722C>T	c.(3721-3723)tCg>tTg	p.S1241L	ZNF142_ENST00000411696.2_Missense_Mutation_p.S1241L	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1078L(1)|p.S1241L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGCAGTTTCGAGTTGGTACC	0.552																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			2	Substitution - Missense(2)	p.S1078L(1)|p.S1241L(1)	large_intestine(2)	breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3721-3723)tCg>tTg		zinc finger protein 142							105.0	115.0	111.0					2																	219507517		2123	4233	6356	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507517G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3722C>T	2.37:g.219507517G>A	ENSP00000408643:p.Ser1241Leu					ZNF142_ENST00000449707.1_Missense_Mutation_p.S1241L	p.S1241L			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4501	-		Renal(207;0.0474)	1241					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3722C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946009	0.92593	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.62364	0.03;0.03	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131721	0.52532	D	0.000062	T	0.77678	0.4166	L	0.59967	1.855	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77702	-0.2489	10	0.62326	D	0.03	-20.1511	19.4628	0.94924	0.0:0.0:1.0:0.0	.	1241;1078	P52746;A8MWU9	ZN142_HUMAN;.	L	1241	ENSP00000408643:S1241L;ENSP00000398798:S1241L	ENSP00000398798:S1241L	S	-	2	0	ZNF142	219215761	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	9.340000	0.97038	2.837000	0.97791	0.655000	0.94253	TCG		0.552	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		5	233	0	0	0	1	0	5	233				
GFM2	84340	broad.mit.edu	37	5	74021841	74021841	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:74021841C>G	ENST00000296805.3	-	18	2294	c.1837G>C	c.(1837-1839)Gaa>Caa	p.E613Q	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.E613Q|RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000345239.2_Missense_Mutation_p.E566Q	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGATACTTTCAGCATACTCA	0.418																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(1837-1839)Gaa>Caa		G elongation factor, mitochondrial 2							125.0	124.0	125.0					5																	74021841		2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74021841C>G	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1837G>C	5.37:g.74021841C>G	ENSP00000296805:p.Glu613Gln					GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.E613Q|GFM2_ENST00000345239.2_Missense_Mutation_p.E566Q	p.E613Q	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	18	2294	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	613						Missense_Mutation	SNP	ENST00000296805.3	37	c.1837G>C	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	1.342	-0.593929	0.03771	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.42900	0.96;0.96;0.96	5.7	2.97	0.34412	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.622107	0.18322	N	0.144788	T	0.24547	0.0595	N	0.17082	0.46	0.09310	N	0.999997	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.13407	0.003;0.006;0.009	T	0.16988	-1.0384	10	0.62326	D	0.03	-0.1065	5.8391	0.18623	0.0:0.5911:0.1299:0.279	.	611;566;613	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	Q	613;566;613	ENSP00000296805:E613Q;ENSP00000296804:E566Q;ENSP00000427004:E613Q	ENSP00000296805:E613Q	E	-	1	0	GFM2	74057597	0.000000	0.05858	0.004000	0.12327	0.034000	0.12701	0.921000	0.28718	0.780000	0.33566	0.563000	0.77884	GAA		0.418	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		13	92	0	0	0	1	0	13	92				
ZNF585A	199704	broad.mit.edu	37	19	37643489	37643489	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:37643489G>C	ENST00000356958.4	-	5	1570	c.1312C>G	c.(1312-1314)Cat>Gat	p.H438D	ZNF585A_ENST00000392157.2_Missense_Mutation_p.H383D|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H383D|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACATTTATGAGGTTTCTCT	0.388																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1312-1314)Cat>Gat		zinc finger protein 585A							113.0	112.0	112.0					19																	37643489		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643489G>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1312C>G	19.37:g.37643489G>C	ENSP00000349440:p.His438Asp					ZNF585A_ENST00000292841.5_Missense_Mutation_p.H383D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H383D|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron	p.H438D			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1570	-			438					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1312C>G		.	.	.	.	.	.	.	.	.	.	A	7.059	0.566092	0.13560	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.20598	2.06;2.06;2.06	3.13	2.09	0.27110	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34002	N	0.004355	T	0.38585	0.1046	H	0.99026	4.405	0.21445	N	0.99969	B	0.06786	0.001	B	0.04013	0.001	T	0.50127	-0.8864	10	0.87932	D	0	.	4.9736	0.14129	0.7213:0.0:0.2787:0.0	.	438	Q6P3V2	Z585A_HUMAN	D	438;383;383	ENSP00000349440:H438D;ENSP00000292841:H383D;ENSP00000375998:H383D	ENSP00000292841:H383D	H	-	1	0	ZNF585A	42335329	0.000000	0.05858	0.420000	0.26596	0.446000	0.32137	1.505000	0.35736	0.017000	0.15025	-0.361000	0.07541	CAT		0.388	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		16	138	0	0	0	1	0	16	138				
ARID2	196528	broad.mit.edu	37	12	46245376	46245376	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:46245376C>G	ENST00000334344.6	+	15	3642	c.3470C>G	c.(3469-3471)tCa>tGa	p.S1157*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1008*|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S767*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1157					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCACTGATCTCAAATAGCCCA	0.478			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3469-3471)tCa>tGa		AT rich interactive domain 2 (ARID, RFX-like)							93.0	92.0	92.0					12																	46245376		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245376C>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3470C>G	12.37:g.46245376C>G	ENSP00000335044:p.Ser1157*					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1008*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S767*	p.S1157*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3642	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1157					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.3470C>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	43	10.095451	0.99336	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.0805	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	1157;274;274;1008;767	.	ENSP00000335044:S1157X	S	+	2	0	ARID2	44531643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.263000	0.78421	2.873000	0.98535	0.563000	0.77884	TCA		0.478	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		21	125	0	0	0	1	0	21	125				
OPLAH	26873	broad.mit.edu	37	8	145111064	145111064	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:145111064G>A	ENST00000426825.1	-	15	2163	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	694					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACTGTCGATGATGAGGCAGG	0.637																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2080-2082)atC>atT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						56.0	61.0	60.0					8																	145111064		1998	4168	6166	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145111064G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2082C>T	8.37:g.145111064G>A						OPLAH_ENST00000534424.1_5'UTR	p.I694I	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2163	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		694					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.2082C>T																																																																																					0.637	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		14	72	0	0	0	1	0	14	72				
SSSCA1	10534	broad.mit.edu	37	11	65338157	65338157	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65338157C>T	ENST00000309328.3	+	2	164	c.102C>T	c.(100-102)atC>atT	p.I34I	SSSCA1_ENST00000526877.1_Silent_p.I34I|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000531405.1_5'UTR|FAM89B_ENST00000530349.1_5'Flank|FAM89B_ENST00000316409.2_5'Flank|FAM89B_ENST00000449319.2_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	34					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AAGATCGCATCTCCCGGCTCA	0.667																																						ENST00000526877.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(100-102)atC>atT		Sjogren syndrome/scleroderma autoantigen 1							34.0	39.0	37.0					11																	65338157		2201	4297	6498	SO:0001819	synonymous_variant	10534				cell division|mitosis		protein binding	g.chr11:65338157C>T	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.102C>T	11.37:g.65338157C>T						SSSCA1_ENST00000309328.3_Silent_p.I34I|SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR	p.I34I			O60232	SSA27_HUMAN			2	107	+			34						Silent	SNP	ENST00000309328.3	37	c.102C>T	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570650	0.28003	.	.	ENSG00000173465	ENST00000526433	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	T	0.73799	0.3633	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72107	-0.4390	4	.	.	.	-11.3552	17.2062	0.86918	0.0:1.0:0.0:0.0	.	.	.	.	F	2	.	.	S	+	2	0	SSSCA1	65094733	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.936000	0.63506	2.654000	0.90174	0.555000	0.69702	TCT		0.667	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		10	51	0	0	0	1	0	10	51				
ACVRL1	94	broad.mit.edu	37	12	52314550	52314550	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:52314550C>G	ENST00000388922.4	+	10	1668	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.S288*|ACVRL1_ENST00000550683.1_Nonsense_Mutation_p.S476*	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGGTCCTCTCAGGCCTAGCT	0.582																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20	GRCh37	CM044558	ACVRL1	M		c.(1426-1428)tCa>tGa		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						54.0	51.0	52.0					12																	52314550		2203	4300	6503	SO:0001587	stop_gained	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52314550C>G	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1385C>G	12.37:g.52314550C>G	ENSP00000373574:p.Ser462*					ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.S462*|ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.S288*	p.S476*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	9	1528	+			462			Protein kinase.		A6NGA8	Nonsense_Mutation	SNP	ENST00000388922.4	37	c.1427C>G	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	38	6.680022	0.97755	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	.	.	.	4.41	4.41	0.53225	.	0.000000	0.29853	N	0.011040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	16.1685	0.81786	0.0:1.0:0.0:0.0	.	.	.	.	X	462;462;476;288;288	.	ENSP00000267008:S462X	S	+	2	0	ACVRL1	50600817	0.997000	0.39634	1.000000	0.80357	0.945000	0.59286	4.020000	0.57189	2.184000	0.69523	0.313000	0.20887	TCA		0.582	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			5	45	0	0	0	1	0	5	45				
FITM1	161247	broad.mit.edu	37	14	24600964	24600964	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:24600964C>T	ENST00000267426.5	+	1	481	c.192C>T	c.(190-192)gtC>gtT	p.V64V	RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.H252Y|FITM1_ENST00000559294.1_5'Flank	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	64					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CAGCAGTGGTCATCTTTGGGC	0.602																																						ENST00000558325.1																			0											c.(754-756)Cat>Tat									78.0	77.0	77.0					14																	24600964		2203	4300	6503	SO:0001819	synonymous_variant	161247							g.chr14:24600964C>T		CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.192C>T	14.37:g.24600964C>T						FITM1_ENST00000267426.5_Silent_p.V64V	p.252_252insY							3	754	+								Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	c.754C>T	CCDS9611.1																																																																																				0.602	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		14	82	0	0	0	1	0	14	82				
NFIX	4784	broad.mit.edu	37	19	13184299	13184299	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:13184299G>A	ENST00000592199.1	+	4	686	c.686G>A	c.(685-687)aGa>aAa	p.R229K	NFIX_ENST00000588228.1_Missense_Mutation_p.R182K|NFIX_ENST00000587260.1_Missense_Mutation_p.R228K|NFIX_ENST00000358552.3_Missense_Mutation_p.R228K|AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000360105.4_Missense_Mutation_p.R232K|NFIX_ENST00000585575.1_Missense_Mutation_p.R221K|NFIX_ENST00000397661.2_Missense_Mutation_p.R229K|NFIX_ENST00000587760.1_Missense_Mutation_p.R221K|NFIX_ENST00000588680.1_3'UTR			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	229					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GAGCTGGTGAGAGTATCACAG	0.527																																						ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(682-684)aGa>aAa		nuclear factor I/X (CCAAT-binding transcription factor)							136.0	131.0	132.0					19																	13184299		1981	4157	6138	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13184299G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.686G>A	19.37:g.13184299G>A	ENSP00000467512:p.Arg229Lys					NFIX_ENST00000360105.4_Missense_Mutation_p.R232K|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000592199.1_Missense_Mutation_p.R229K|NFIX_ENST00000588228.1_Missense_Mutation_p.R182K|NFIX_ENST00000397661.2_Missense_Mutation_p.R229K|NFIX_ENST00000587260.1_Missense_Mutation_p.R228K|NFIX_ENST00000587760.1_Missense_Mutation_p.R221K|NFIX_ENST00000585575.1_Missense_Mutation_p.R221K	p.R228K			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		3	683	+			229					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.683G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.940120|4.940120	0.92526|0.92526	.|.	.|.	ENSG00000008441|ENSG00000008441	ENST00000438869|ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	.|T;T	.|0.48836	.|0.8;0.8	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.64472	.|0.2601	L|L	0.58428|0.58428	1.81|1.81	0.47621|0.47621	D|D	0.999479|0.999479	.|D;D;D;D;D	.|0.64830	.|0.994;0.968;0.959;0.994;0.992	.|D;D;D;D;D	.|0.79108	.|0.992;0.958;0.937;0.992;0.986	.|T	.|0.65512	.|-0.6150	.|10	.|0.52906	.|T	.|0.07	.|.	15.1661|15.1661	0.72825|0.72825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|237;228;232;229;229	.|B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.|.;.;.;NFIX_HUMAN;.	.|K	-1|229;229;232;228	.|ENSP00000380781:R229K;ENSP00000351354:R228K	.|ENSP00000264825:R232K	.|R	+|+	.|2	.|0	NFIX|NFIX	13045299|13045299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.575000|8.575000	0.90766|0.90766	2.399000|2.399000	0.81585|0.81585	0.462000|0.462000	0.41574|0.41574	.|AGA		0.527	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		14	70	0	0	0	1	0	14	70				
PRDM1	639	broad.mit.edu	37	6	106553064	106553064	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:106553064C>T	ENST00000369096.4	+	5	1263	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	PRDM1_ENST00000369091.2_Silent_p.P307P|PRDM1_ENST00000369089.3_Silent_p.P209P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	343					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GAAGCAGCCCCGACCAAAGCC	0.617			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1027-1029)ccC>ccT		PR domain containing 1, with ZNF domain							68.0	60.0	63.0					6																	106553064		2203	4300	6503	SO:0001819	synonymous_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553064C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1029C>T	6.37:g.106553064C>T						PRDM1_ENST00000369089.3_Silent_p.P209P|PRDM1_ENST00000369091.2_Silent_p.P307P	p.P343P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1263	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	343					B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	c.1029C>T	CCDS5054.2																																																																																				0.617	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			12	109	0	0	0	1	0	12	109				
EPHA1	2041	broad.mit.edu	37	7	143091299	143091299	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:143091299C>G	ENST00000275815.3	-	15	2576	c.2490G>C	c.(2488-2490)atG>atC	p.M830I	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	830	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCTGATTGCTCATCTCCCCAT	0.512																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2488-2490)atG>atC		EPH receptor A1							181.0	166.0	171.0					7																	143091299		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143091299C>G	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2490G>C	7.37:g.143091299C>G	ENSP00000275815:p.Met830Ile						p.M830I	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			15	2576	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	830			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2490G>C	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569185	0.86439	.	.	ENSG00000146904	ENST00000275815	D	0.82619	-1.63	4.58	4.58	0.56647	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.84028	0.5382	N	0.17278	0.47	0.58432	D	0.999998	P	0.51933	0.949	D	0.63488	0.915	D	0.87137	0.2200	10	0.87932	D	0	.	17.9301	0.88994	0.0:1.0:0.0:0.0	.	830	P21709	EPHA1_HUMAN	I	830	ENSP00000275815:M830I	ENSP00000275815:M830I	M	-	3	0	EPHA1	142801421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.583000	0.82559	2.529000	0.85273	0.591000	0.81541	ATG		0.512	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			7	161	0	0	0	1	0	7	161				
ABCD3	5825	broad.mit.edu	37	1	94955491	94955491	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:94955491C>A	ENST00000370214.4	+	15	1306	c.1282C>A	c.(1282-1284)Cct>Act	p.P428T	ABCD3_ENST00000536817.1_Missense_Mutation_p.P355T|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.P318T|ABCD3_ENST00000454898.2_Missense_Mutation_p.P452T	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	428					ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCCCTTGATACCTGGTGCTGG	0.318																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1282-1284)Cct>Act		ATP-binding cassette, sub-family D (ALD), member 3							128.0	125.0	126.0					1																	94955491		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94955491C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1282C>A	1.37:g.94955491C>A	ENSP00000359233:p.Pro428Thr					ABCD3_ENST00000536817.1_Missense_Mutation_p.P355T|ABCD3_ENST00000394233.2_Missense_Mutation_p.P318T|ABCD3_ENST00000454898.2_Missense_Mutation_p.P452T|ABCD3_ENST00000484213.1_3'UTR	p.P428T	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	15	1306	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	428					D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1282C>A	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539433	0.85917	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.94537	-3.31;-3.45;-3.42;-3.45	5.98	5.98	0.97165	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	M	0.73598	2.24	0.80722	D	1	B;D;B	0.89917	0.255;1.0;0.155	B;D;B	0.87578	0.155;0.998;0.097	D	0.95196	0.8312	10	0.37606	T	0.19	-15.242	20.4581	0.99154	0.0:1.0:0.0:0.0	.	452;318;428	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	T	318;452;355;428	ENSP00000377780:P318T;ENSP00000403357:P452T;ENSP00000440692:P355T;ENSP00000359233:P428T	ENSP00000359233:P428T	P	+	1	0	ABCD3	94728079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.238000	0.78173	2.835000	0.97688	0.650000	0.86243	CCT		0.318	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		16	69	1	0	0.000566183	1	0.000575379	16	69				
MYBPH	4608	broad.mit.edu	37	1	203144534	203144534	+	Silent	SNP	C	C	G	rs200640888		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:203144534C>G	ENST00000255416.4	-	2	318	c.261G>C	c.(259-261)gtG>gtC	p.V87V		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	87	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		AGCTCACAGTCACAGAGCTGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15173	0.001		0.0	False		,,,				2504	0.0				NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(259-261)gtG>gtC		myosin binding protein H							66.0	77.0	73.0					1																	203144534		2203	4300	6503	SO:0001819	synonymous_variant	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203144534C>G	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.261G>C	1.37:g.203144534C>G							p.V87V	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	2	318	-			87			Fibronectin type-III 1.		Q16886|Q86YC5	Silent	SNP	ENST00000255416.4	37	c.261G>C	CCDS30975.1																																																																																				0.627	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		17	131	0	0	0	1	0	17	131				
TMEM184A	202915	broad.mit.edu	37	7	1586684	1586684	+	Silent	SNP	C	C	T	rs368889455		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:1586684C>T	ENST00000297477.5	-	9	1462	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	382					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CGGGCCTGGGCGCCTCGTGCG	0.697																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1144-1146)gcG>gcA		transmembrane protein 184A				1,4391	2.1+/-5.4	0,1,2195	25.0	30.0	28.0		1146	1.4	0.1	7		28	0,8594		0,0,4297	no	coding-synonymous	TMEM184A	NM_001097620.1		0,1,6492	TT,TC,CC		0.0,0.0228,0.0077		382/414	1586684	1,12985	2196	4297	6493	SO:0001819	synonymous_variant	202915					integral to membrane		g.chr7:1586684C>T		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1146G>A	7.37:g.1586684C>T							p.A382A	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1462	-		Ovarian(82;0.0253)	382					Q8TBQ6	Silent	SNP	ENST00000297477.5	37	c.1146G>A	CCDS43537.1																																																																																				0.697	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		4	68	0	0	0	1	0	4	68				
MLXIP	22877	broad.mit.edu	37	12	122617979	122617979	+	Missense_Mutation	SNP	C	C	G	rs186648555	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:122617979C>G	ENST00000319080.7	+	9	1309	c.1177C>G	c.(1177-1179)Cac>Gac	p.H393D	MLXIP_ENST00000538698.1_5'UTR|MLXIP_ENST00000377037.2_5'Flank					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATCCCTGGCTCACATGGATGA	0.622													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		13800	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1177-1179)Cac>Gac		MLX interacting protein		C	ASP/HIS	5,4027		0,5,2011	33.0	37.0	35.0		767	3.2	0.0	12		35	0,8356		0,0,4178	yes	missense	MLXIP	NM_014938.3	81	0,5,6189	GG,GC,CC		0.0,0.124,0.0404	benign	393/920	122617979	5,12383	2016	4178	6194	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122617979C>G	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1177C>G	12.37:g.122617979C>G	ENSP00000312834:p.His393Asp					MLXIP_ENST00000538698.1_5'UTR	p.H393D			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	9	1309	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	393			Transactivation domain.			Missense_Mutation	SNP	ENST00000319080.7	37	c.1177C>G		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.134	-1.109559	0.01813	0.00124	0.0	ENSG00000175727	ENST00000319080	T	0.13196	2.61	5.04	3.17	0.36434	.	0.775344	0.12450	N	0.467842	T	0.08802	0.0218	.	.	.	0.52501	D	0.999952	B;B	0.20368	0.044;0.013	B;B	0.23018	0.043;0.012	T	0.15235	-1.0444	9	0.11182	T	0.66	-7.3915	10.295	0.43618	0.0:0.7899:0.1359:0.0742	.	393;393	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	D	393	ENSP00000312834:H393D	ENSP00000312834:H393D	H	+	1	0	MLXIP	121183932	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.461000	0.21940	0.501000	0.28013	0.591000	0.81541	CAC		0.622	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		10	61	0	0	0	1	0	10	61				
PKN1	5585	broad.mit.edu	37	19	14580239	14580239	+	Missense_Mutation	SNP	C	C	T	rs188188103		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:14580239C>T	ENST00000242783.6	+	16	2228	c.2063C>T	c.(2062-2064)cCg>cTg	p.P688L	PKN1_ENST00000342216.4_Missense_Mutation_p.P694L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	688	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TTCCAGACACCGGAGCACGTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18312	0.001		0.0	False		,,,				2504	0.0				NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2062-2064)cCg>cTg		protein kinase N1		C	LEU/PRO,LEU/PRO	2,4244		0,2,2121	110.0	124.0	119.0		2063,2081	1.6	0.7	19		119	0,8458		0,0,4229	no	missense,missense	PKN1	NM_002741.3,NM_213560.1	98,98	0,2,6350	TT,TC,CC		0.0,0.0471,0.0157	benign,benign	688/943,694/949	14580239	2,12702	2123	4229	6352	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14580239C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2063C>T	19.37:g.14580239C>T	ENSP00000242783:p.Pro688Leu					PKN1_ENST00000342216.4_Missense_Mutation_p.P694L	p.P688L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			16	2228	+			688			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.2063C>T	CCDS42513.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.29	3.351061	0.61183	4.71E-4	0.0	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.26067	1.76;1.76	3.77	1.62	0.23740	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081398	0.49916	U	0.000132	T	0.21674	0.0522	L	0.48986	1.54	0.30511	N	0.769468	P;D	0.53745	0.953;0.962	B;B	0.42738	0.275;0.396	T	0.15867	-1.0422	10	0.49607	T	0.09	-12.8954	7.6782	0.28499	0.0:0.7853:0.0:0.2147	.	694;688	Q16512-2;Q16512	.;PKN1_HUMAN	L	688;694	ENSP00000242783:P688L;ENSP00000343325:P694L	ENSP00000242783:P688L	P	+	2	0	PKN1	14441239	0.000000	0.05858	0.746000	0.31095	0.949000	0.60115	0.901000	0.28445	0.391000	0.25143	-0.332000	0.08345	CCG		0.622	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		4	156	0	0	0	1	0	4	156				
PAXIP1	22976	broad.mit.edu	37	7	154767968	154767968	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:154767968G>A	ENST00000404141.1	-	6	666	c.512C>T	c.(511-513)tCa>tTa	p.S171L	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S171L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	171	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGTTTTCTCTGATACGCAATC	0.403																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(511-513)tCa>tTa		PAX interacting (with transcription-activation domain) protein 1							79.0	73.0	75.0					7																	154767968		1880	4131	6011	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767968G>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.512C>T	7.37:g.154767968G>A	ENSP00000384048:p.Ser171Leu					PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S171L	p.S171L			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	666	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	171			BRCT 2.|Interaction with PA1 (By similarity).		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.512C>T	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308046	0.60305	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	T;T;T	0.11495	2.77;2.77;2.77	4.98	4.98	0.66077	BRCT (3);	0.241944	0.28125	U	0.016507	T	0.16214	0.0390	L	0.34521	1.04	0.35082	D	0.763505	B;D;B;B	0.56035	0.084;0.974;0.137;0.157	B;P;B;B	0.50440	0.051;0.641;0.068;0.138	T	0.08785	-1.0705	10	0.46703	T	0.11	-6.9187	18.2489	0.89996	0.0:0.0:1.0:0.0	.	124;80;137;171	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	L	171;171;119;124;129	ENSP00000384048:S171L;ENSP00000380376:S171L;ENSP00000389849:S129L	ENSP00000319149:S124L	S	-	2	0	PAXIP1	154398901	0.996000	0.38824	0.120000	0.21714	0.939000	0.58152	5.111000	0.64628	2.301000	0.77427	0.305000	0.20034	TCA		0.403	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		16	79	0	0	0	1	0	16	79				
CCDC15	80071	broad.mit.edu	37	11	124857614	124857614	+	Missense_Mutation	SNP	C	C	G	rs369886713		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:124857614C>G	ENST00000344762.5	+	8	1751	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E	CCDC15_ENST00000529051.1_Missense_Mutation_p.Q498E	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	498						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GCCAAAATATCAGGACCAGAA	0.398																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1492-1494)Cag>Gag		coiled-coil domain containing 15		C	GLU/GLN	0,3620		0,0,1810	134.0	130.0	131.0		1492	2.8	0.1	11		131	1,8145		0,1,4072	no	missense	CCDC15	NM_025004.2	29	0,1,5882	GG,GC,CC		0.0123,0.0,0.0085	possibly-damaging	498/952	124857614	1,11765	1810	4073	5883	SO:0001583	missense	80071					centrosome		g.chr11:124857614C>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1492C>G	11.37:g.124857614C>G	ENSP00000341684:p.Gln498Glu					CCDC15_ENST00000344762.5_Missense_Mutation_p.Q498E	p.Q498E			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1751	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	498					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1492C>G	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396075	0.25205	0.0	1.23E-4	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.33438	1.41;1.5	2.82	2.82	0.32997	.	0.625726	0.13345	N	0.394869	T	0.31009	0.0783	M	0.62723	1.935	0.25908	N	0.983264	B	0.20052	0.041	B	0.17433	0.018	T	0.26087	-1.0113	10	0.62326	D	0.03	5.0009	9.8801	0.41227	0.0:1.0:0.0:0.0	.	498	Q0P6D6	CCD15_HUMAN	E	498	ENSP00000435403:Q498E;ENSP00000341684:Q498E	ENSP00000341684:Q498E	Q	+	1	0	CCDC15	124362824	0.011000	0.17503	0.068000	0.19968	0.170000	0.22686	0.878000	0.28126	1.574000	0.49760	0.391000	0.25812	CAG		0.398	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		34	243	0	0	0	1	0	34	243				
EDC4	23644	broad.mit.edu	37	16	67910785	67910785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:67910785C>T	ENST00000358933.5	+	4	600	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	121					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGTGAAAATTCAGCCTGTCGC	0.517																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(361-363)Cag>Tag		enhancer of mRNA decapping 4							131.0	130.0	130.0					16																	67910785		2198	4300	6498	SO:0001587	stop_gained	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67910785C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.361C>T	16.37:g.67910785C>T	ENSP00000351811:p.Gln121*					EDC4_ENST00000574770.1_3'UTR	p.Q121*	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	4	600	+		Ovarian(137;0.0563)	121					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Nonsense_Mutation	SNP	ENST00000358933.5	37	c.361C>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	38	7.165072	0.98107	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-17.3663	19.7135	0.96105	0.0:1.0:0.0:0.0	.	.	.	.	X	121;53	.	ENSP00000351811:Q121X	Q	+	1	0	EDC4	66468286	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.769000	0.95229	0.655000	0.94253	CAG		0.517	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		16	132	0	0	0	1	0	16	132				
RANBP2	5903	broad.mit.edu	37	2	109383857	109383857	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:109383857G>A	ENST00000283195.6	+	20	6988	c.6862G>A	c.(6862-6864)Ggg>Agg	p.G2288R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2288					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAATCAGAGTGGGACTTCAGT	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(6862-6864)Ggg>Agg		RAN binding protein 2							51.0	58.0	55.0					2																	109383857		2188	4270	6458	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383857G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6862G>A	2.37:g.109383857G>A	ENSP00000283195:p.Gly2288Arg						p.G2288R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6988	+			2288					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6862G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	5.551	0.286593	0.10513	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.25912	1.77	5.8	3.68	0.42216	.	.	.	.	.	T	0.12774	0.0310	N	0.08118	0	0.25467	N	0.987862	B	0.12013	0.005	B	0.11329	0.006	T	0.23332	-1.0191	9	0.22109	T	0.4	-11.9676	9.1907	0.37197	0.3213:0.0:0.6787:0.0	.	2288	P49792	RBP2_HUMAN	R	1312;2288	ENSP00000283195:G2288R	ENSP00000283195:G2288R	G	+	1	0	RANBP2	108750289	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	1.147000	0.31602	1.459000	0.47892	0.455000	0.32223	GGG		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		27	214	0	0	0	1	0	27	214				
HLA-DQB1	3119	broad.mit.edu	37	6	32629838	32629838	+	Silent	SNP	G	G	A	rs9280010		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:32629838G>A	ENST00000399082.3	-	2	341	c.297C>T	c.(295-297)atC>atT	p.I99I	HLA-DQB1_ENST00000399079.3_Silent_p.I189I|HLA-DQB1-AS1_ENST00000419852.1_RNA|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399084.1_Silent_p.I189I|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1_ENST00000374943.4_Silent_p.I189I|HLA-DQB1_ENST00000434651.2_Silent_p.I189I			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	189	Beta-1.		V -> D (in allele DQB1*03:13).|V -> I (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, allele DQB1*02:05, allele DQB1*03:06, allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02, allele DQB1*04:03, allele DQB1*05:04, allele DQB1*06:01 and allele DQB1*06:35).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	GCATCACCAGGATCTGGAAAG	0.582									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	ENST00000399084.1																			0				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(565-567)atC>atT		major histocompatibility complex, class II, DQ beta 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						56.0	60.0	59.0					6																	32629838		2200	4300	6500	SO:0001819	synonymous_variant	3119	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32629838G>A		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.297C>T	6.37:g.32629838G>A						HLA-DQB1_ENST00000399079.3_Silent_p.I189I|HLA-DQB1_ENST00000434651.2_Silent_p.I189I|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399082.3_Silent_p.I99I|HLA-DQB1_ENST00000374943.4_Silent_p.I189I	p.I189I			P01920	DQB1_HUMAN			4	745	-			189			Beta-2.|Ig-like C1-type.		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37	c.567C>T																																																																																					0.582	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		15	79	0	0	0	1	0	15	79				
TTN	7273	broad.mit.edu	37	2	179584137	179584137	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:179584137C>T	ENST00000591111.1	-	81	23253	c.23029G>A	c.(23029-23031)Gtg>Atg	p.V7677M	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6750M|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V7994M			Q8WZ42	TITIN_HUMAN	titin	13221	Ig-like 59.				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)			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)			ATGGCATTCACGTCTTTCAGC	0.502																																						ENST00000589042.1																			0				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.(23980-23982)Gtg>Atg		titin							83.0	85.0	84.0					2																	179584137		1903	4127	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584137C>T	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.23029G>A	2.37:g.179584137C>T	ENSP00000465570:p.Val7677Met					TTN_ENST00000591111.1_Missense_Mutation_p.V7677M|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6750M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	p.V7994M	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)		83	24204	-			7677			Ig-like 62.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.23980G>A		.	.	.	.	.	.	.	.	.	.	C	2.153	-0.393952	0.04899	.	.	ENSG00000155657	ENST00000342992	T	0.70986	-0.53	6.08	-8.02	0.01118	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.50326	0.1609	L	0.39020	1.185	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.43605	-0.9381	9	0.87932	D	0	.	2.4993	0.04630	0.0973:0.2963:0.201:0.4054	.	7677	Q8WZ42	TITIN_HUMAN	M	6750	ENSP00000343764:V6750M	ENSP00000343764:V6750M	V	-	1	0	TTN	179292382	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.279000	0.18771	-1.592000	0.01619	-0.794000	0.03295	GTG		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	140	0	0	0	1	0	11	140				
RAB4A	5867	broad.mit.edu	37	1	229438699	229438699	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:229438699C>T	ENST00000366690.4	+	7	840	c.632C>T	c.(631-633)cCg>cTg	p.P211L	SPHAR_ENST00000366688.3_5'Flank|RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	211					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GCACAGGCCCCGAACGCTCAG	0.582																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(631-633)cCg>cTg		RAB4A, member RAS oncogene family							87.0	89.0	88.0					1																	229438699		2203	4300	6503	SO:0001583	missense	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229438699C>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.632C>T	1.37:g.229438699C>T	ENSP00000355651:p.Pro211Leu					RAB4A_ENST00000473894.1_3'UTR	p.P211L	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN			7	840	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	206					Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	c.632C>T	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562181	0.27915	.	.	ENSG00000168118	ENST00000366690	T	0.62498	0.02	5.74	3.74	0.42951	.	0.289163	0.39341	N	0.001382	T	0.40448	0.1117	N	0.14661	0.345	0.53688	D	0.999977	B	0.10296	0.003	B	0.01281	0.0	T	0.16305	-1.0407	10	0.41790	T	0.15	.	6.3398	0.21316	0.4423:0.4566:0.0:0.1011	.	206	P20338	RAB4A_HUMAN	L	211	ENSP00000355651:P211L	ENSP00000355651:P211L	P	+	2	0	RAB4A	227505322	0.998000	0.40836	0.618000	0.29105	0.143000	0.21401	3.681000	0.54648	0.716000	0.32124	0.655000	0.94253	CCG		0.582	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		12	128	0	0	0	1	0	12	128				
KRTAP10-10	353333	broad.mit.edu	37	21	46057586	46057586	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:46057586C>T	ENST00000380095.1	+	1	314	c.252C>T	c.(250-252)tgC>tgT	p.C84C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	84	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGCCGGATTGCTGCACCTCCT	0.642																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(250-252)tgC>tgT		keratin associated protein 10-10							118.0	113.0	115.0					21																	46057586		2203	4300	6503	SO:0001819	synonymous_variant	353333					keratin filament		g.chr21:46057586C>T	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.252C>T	21.37:g.46057586C>T						TSPEAR_ENST00000323084.4_Intron	p.C84C	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	314	+			84			15 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000380095.1	37	c.252C>T	CCDS33585.1																																																																																				0.642	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		29	180	0	0	0	1	0	29	180				
ATP10B	23120	broad.mit.edu	37	5	160047823	160047823	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:160047823C>G	ENST00000327245.5	-	15	2793	c.1947G>C	c.(1945-1947)gaG>gaC	p.E649D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	649					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCTAAGCTCTCCCCGAGGT	0.557																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1945-1947)gaG>gaC		ATPase, class V, type 10B							88.0	92.0	91.0					5																	160047823		2132	4241	6373	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047823C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1947G>C	5.37:g.160047823C>G	ENSP00000313600:p.Glu649Asp					CTC-348L5.1_ENST00000523598.1_RNA	p.E649D	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2793	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	649					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1947G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	2.103	-0.405533	0.04832	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.86164	-2.08;-2.08	5.53	1.13	0.20643	HAD-like domain (1);	0.411672	0.24481	N	0.038156	T	0.69106	0.3074	N	0.13098	0.295	0.25983	N	0.982342	B;B	0.11235	0.004;0.004	B;B	0.12156	0.004;0.007	T	0.51419	-0.8708	9	.	.	.	.	2.0989	0.03675	0.1209:0.4069:0.2369:0.2353	.	257;649	Q2YDW8;O94823	.;AT10B_HUMAN	D	649;257	ENSP00000313600:E649D;ENSP00000431081:E257D	.	E	-	3	2	ATP10B	159980401	0.004000	0.15560	0.991000	0.47740	0.167000	0.22549	-0.950000	0.03889	0.275000	0.22094	-0.140000	0.14226	GAG		0.557	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		27	136	0	0	0	1	0	27	136				
DHX16	8449	broad.mit.edu	37	6	30633423	30633423	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:30633423C>T	ENST00000376442.3	-	5	949	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	252					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AACTCCTCATCAGCCAGCTCC	0.617																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(754-756)Gat>Aat		DEAH (Asp-Glu-Ala-His) box polypeptide 16							84.0	82.0	82.0					6																	30633423		1511	2708	4219	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30633423C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.754G>A	6.37:g.30633423C>T	ENSP00000365625:p.Asp252Asn						p.D252N	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			5	949	-			252					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.754G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	c	34	5.381763	0.95967	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.51574	0.7;0.7	5.12	5.12	0.69794	.	0.149521	0.56097	D	0.000022	T	0.66761	0.2822	M	0.87827	2.91	0.80722	D	1	D;D	0.63046	0.991;0.992	P;D	0.63113	0.798;0.911	T	0.73190	-0.4061	10	0.87932	D	0	.	17.4724	0.87649	0.0:1.0:0.0:0.0	.	192;252	B4DZ28;O60231	.;DHX16_HUMAN	N	252;192	ENSP00000365625:D252N;ENSP00000399101:D192N	ENSP00000365625:D252N	D	-	1	0	DHX16	30741402	1.000000	0.71417	0.736000	0.30914	0.986000	0.74619	6.861000	0.75478	2.652000	0.90054	0.586000	0.80456	GAT		0.617	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		16	106	0	0	0	1	0	16	106				
CASKIN2	57513	broad.mit.edu	37	17	73498128	73498128	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:73498128G>A	ENST00000321617.3	-	18	3613	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F	CASKIN2_ENST00000433559.2_Silent_p.F927F	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1009	Pro-rich.					cytoplasm (GO:0005737)		p.F1009F(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCCACTCCGAAGGCCAGCA	0.662																																						ENST00000321617.3																			1	Substitution - coding silent(1)	p.F1009F(1)	endometrium(1)	endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3025-3027)ttC>ttT		CASK interacting protein 2							26.0	36.0	33.0					17																	73498128		2199	4296	6495	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498128G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3027C>T	17.37:g.73498128G>A						CASKIN2_ENST00000433559.2_Silent_p.F927F	p.F1009F	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3613	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1009			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.3027C>T	CCDS11723.1																																																																																				0.662	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		25	96	0	0	0	1	0	25	96				
CACNA1C	775	broad.mit.edu	37	12	2602462	2602462	+	Silent	SNP	C	C	T	rs375785714		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:2602462C>T	ENST00000347598.4	+	7	1023	c.1023C>T	c.(1021-1023)caC>caT	p.H341H	CACNA1C_ENST00000399649.1_Silent_p.H341H|CACNA1C_ENST00000335762.5_Silent_p.H341H|CACNA1C_ENST00000399617.1_Silent_p.H341H|CACNA1C_ENST00000399629.1_Silent_p.H341H|CACNA1C_ENST00000399638.1_Silent_p.H341H|CACNA1C_ENST00000406454.3_Silent_p.H341H|CACNA1C_ENST00000399634.1_Silent_p.H341H|CACNA1C_ENST00000399644.1_Silent_p.H341H|CACNA1C_ENST00000399621.1_Silent_p.H341H|CACNA1C_ENST00000327702.7_Silent_p.H341H|CACNA1C_ENST00000399591.1_Silent_p.H341H|CACNA1C_ENST00000402845.3_Silent_p.H341H|CACNA1C_ENST00000399595.1_Silent_p.H341H|CACNA1C_ENST00000344100.3_Silent_p.H341H|CACNA1C_ENST00000399603.1_Silent_p.H341H|CACNA1C_ENST00000480911.1_Silent_p.H341H|CACNA1C_ENST00000399655.1_Silent_p.H341H|CACNA1C_ENST00000399637.1_Silent_p.H341H|CACNA1C_ENST00000399606.1_Silent_p.H341H|CACNA1C_ENST00000399641.1_Silent_p.H341H|CACNA1C_ENST00000399597.1_Silent_p.H341H|CACNA1C_ENST00000399601.1_Silent_p.H341H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	341					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCCCAAGCACGGCATCACCA	0.612																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1021-1023)caC>caT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	C	,,,,,,,,,,,,,,,,,,,,,,	2,4402	4.2+/-10.8	0,2,2200	149.0	147.0	148.0		1023,1023,1023,1023,1023,1023,1023,1023,1023,1023,1023,1023,1023,1023,1023,1023,1023,1014,1023,1023,1023,1023,1023	-1.0	1.0	12		148	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,,,,,,,,,,,,,,,,,,,,,,	341/2139,341/2187,341/2180,341/2174,341/2167,341/2159,341/2158,341/2158,341/2158,341/2156,341/2147,341/2147,341/2145,341/2139,341/2139,341/2139,341/2139,338/2136,341/2128,341/2139,341/2174,341/2199,341/2222	2602462	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602462C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1023C>T	12.37:g.2602462C>T						CACNA1C_ENST00000335762.5_Silent_p.H341H|CACNA1C_ENST00000399617.1_Silent_p.H341H|CACNA1C_ENST00000399638.1_Silent_p.H341H|CACNA1C_ENST00000399595.1_Silent_p.H341H|CACNA1C_ENST00000344100.3_Silent_p.H341H|CACNA1C_ENST00000402845.3_Silent_p.H341H|CACNA1C_ENST00000406454.3_Silent_p.H341H|CACNA1C_ENST00000399603.1_Silent_p.H341H|CACNA1C_ENST00000399641.1_Silent_p.H341H|CACNA1C_ENST00000347598.4_Silent_p.H341H|CACNA1C_ENST00000399634.1_Silent_p.H341H|CACNA1C_ENST00000399644.1_Silent_p.H341H|CACNA1C_ENST00000399649.1_Silent_p.H341H|CACNA1C_ENST00000399601.1_Silent_p.H341H|CACNA1C_ENST00000327702.7_Silent_p.H341H|CACNA1C_ENST00000399591.1_Silent_p.H341H|CACNA1C_ENST00000399629.1_Silent_p.H341H|CACNA1C_ENST00000480911.1_Silent_p.H341H|CACNA1C_ENST00000399637.1_Silent_p.H341H|CACNA1C_ENST00000399606.1_Silent_p.H341H|CACNA1C_ENST00000399597.1_Silent_p.H341H|CACNA1C_ENST00000399621.1_Silent_p.H341H	p.H341H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1288	+			341					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1023C>T	CCDS44788.1																																																																																				0.612	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		20	194	0	0	0	1	0	20	194				
SPTLC1	10558	broad.mit.edu	37	9	94830337	94830337	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:94830337C>G	ENST00000262554.2	-	6	476	c.471G>C	c.(469-471)aaG>aaC	p.K157N	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	157					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CTTCTTCTGTCTTCATAAATT	0.343																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(469-471)aaG>aaC		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						106.0	108.0	107.0					9																	94830337		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94830337C>G	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.471G>C	9.37:g.94830337C>G	ENSP00000262554:p.Lys157Asn					SPTLC1_ENST00000482632.1_5'UTR	p.K157N	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			6	476	-			157					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.471G>C	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359216	0.24598	.	.	ENSG00000090054	ENST00000262554	D	0.94723	-3.5	5.03	4.13	0.48395	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.270973	0.42053	N	0.000780	D	0.86372	0.5917	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.19666	0.026;0.005;0.005	T	0.80603	-0.1309	10	0.33940	T	0.23	-15.4934	10.2114	0.43143	0.0:0.7876:0.1378:0.0746	.	157;152;157	Q6NUL7;Q59EQ4;O15269	.;.;SPTC1_HUMAN	N	157	ENSP00000262554:K157N	ENSP00000262554:K157N	K	-	3	2	SPTLC1	93870158	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.548000	0.23314	1.241000	0.43820	0.467000	0.42956	AAG		0.343	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		9	27	0	0	0	1	0	9	27				
MAST4	375449	broad.mit.edu	37	5	66461212	66461212	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:66461212G>A	ENST00000403625.2	+	29	6500	c.6205G>A	c.(6205-6207)Gag>Aag	p.E2069K	MAST4_ENST00000261569.7_Missense_Mutation_p.E1875K|MAST4_ENST00000404260.3_Missense_Mutation_p.E2072K|MAST4_ENST00000405643.1_Missense_Mutation_p.E1890K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1880K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2072						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AATTCCCTGTGAGAAGGAGCT	0.617																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6214-6216)Gag>Aag		microtubule associated serine/threonine kinase family member 4							38.0	46.0	43.0					5																	66461212		1994	4151	6145	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461212G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6205G>A	5.37:g.66461212G>A	ENSP00000385727:p.Glu2069Lys					MAST4_ENST00000405643.1_Missense_Mutation_p.E1890K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1880K|MAST4_ENST00000261569.7_Missense_Mutation_p.E1875K|MAST4_ENST00000403625.2_Missense_Mutation_p.E2069K	p.E2072K			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6522	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2072					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6214G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770073	0.49680	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.69435	-0.38;-0.38;-0.4;-0.39;-0.37	4.93	4.05	0.47172	.	0.966274	0.08540	N	0.930661	T	0.58878	0.2153	L	0.32530	0.975	0.09310	N	1	B;B	0.30281	0.18;0.275	B;B	0.31337	0.06;0.128	T	0.51631	-0.8681	10	0.46703	T	0.11	-4.6453	11.9671	0.53042	0.0814:0.0:0.9186:0.0	.	2072;1880	O15021;O15021-3	MAST4_HUMAN;.	K	2072;2069;1880;1890;1890;1875	ENSP00000385048:E2072K;ENSP00000385727:E2069K;ENSP00000384313:E1880K;ENSP00000384099:E1890K;ENSP00000261569:E1875K	ENSP00000261569:E1875K	E	+	1	0	MAST4	66496968	0.818000	0.29161	0.010000	0.14722	0.037000	0.13140	2.242000	0.43106	1.282000	0.44496	0.563000	0.77884	GAG		0.617	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			10	80	0	0	0	1	0	10	80				
ACTL6B	51412	broad.mit.edu	37	7	100252740	100252740	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:100252740C>T	ENST00000160382.5	-	4	377	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	91					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCCAGTCCTCGACTGGGGCC	0.597																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(271-273)Gag>Aag		actin-like 6B							136.0	99.0	112.0					7																	100252740		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100252740C>T	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.271G>A	7.37:g.100252740C>T	ENSP00000160382:p.Glu91Lys						p.E91K	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			4	377	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		91					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.271G>A	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206127	0.79127	.	.	ENSG00000077080	ENST00000160382;ENST00000461605	D;D	0.94613	-3.47;-3.47	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000015	D	0.95541	0.8551	L	0.46819	1.47	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	D	0.95436	0.8521	10	0.49607	T	0.09	.	15.7457	0.77939	0.0:1.0:0.0:0.0	.	91	O94805	ACL6B_HUMAN	K	91;10	ENSP00000160382:E91K;ENSP00000420151:E10K	ENSP00000160382:E91K	E	-	1	0	ACTL6B	100090676	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	7.543000	0.82106	2.323000	0.78572	0.462000	0.41574	GAG		0.597	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		9	34	0	0	0	1	0	9	34				
ATP8B5P	158381	broad.mit.edu	37	9	35450407	35450407	+	RNA	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:35450407G>A	ENST00000430846.1	+	0	3257									ATPase, class I, type 8B, member 5, pseudogene																		AAATTGACTTGAGGTTTTTTT	0.338																																						ENST00000430846.1																			0																																																			158381							g.chr9:35450407G>A			9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450407G>A														0	3257	+									RNA	SNP	ENST00000430846.1	37																																																																																						0.338	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1	NR_003581.1		3	6	0	0	0	1	0	3	6				
ALS2CR11	151254	broad.mit.edu	37	2	202483821	202483821	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202483821G>A	ENST00000286195.3	-	1	77	c.33C>T	c.(31-33)ttC>ttT	p.F11F	ALS2CR11_ENST00000439802.1_Silent_p.F11F|ALS2CR11_ENST00000439140.1_Silent_p.F11F|ALS2CR11_ENST00000450242.1_Silent_p.F11F	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	11										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAAGTGTGCTGAAAGGCCTAT	0.612																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(31-33)ttC>ttT		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							106.0	99.0	101.0					2																	202483821		2203	4300	6503	SO:0001819	synonymous_variant	151254							g.chr2:202483821G>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.33C>T	2.37:g.202483821G>A						ALS2CR11_ENST00000450242.1_Silent_p.F11F|ALS2CR11_ENST00000286195.3_Silent_p.F11F|ALS2CR11_ENST00000439802.1_Silent_p.F11F	p.F11F	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			1	77	-			11					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	c.33C>T	CCDS2349.1																																																																																				0.612	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		7	112	0	0	0	1	0	7	112				
HERC3	8916	broad.mit.edu	37	4	89625374	89625374	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:89625374C>T	ENST00000402738.1	+	24	3022	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	HERC3_ENST00000264345.3_Missense_Mutation_p.S928L|HERC3_ENST00000543130.1_Missense_Mutation_p.S372L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	928					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCCAGCCTTCAGAACTGAGG	0.458																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(2782-2784)tCa>tTa		HECT and RLD domain containing E3 ubiquitin protein ligase 3							176.0	171.0	173.0					4																	89625374		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89625374C>T	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2783C>T	4.37:g.89625374C>T	ENSP00000385684:p.Ser928Leu					HERC3_ENST00000264345.3_Missense_Mutation_p.S928L|HERC3_ENST00000543130.1_Missense_Mutation_p.S372L	p.S928L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	24	3022	+			928					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.2783C>T	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874447	0.51695	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130	T;T;T	0.58940	0.3;0.3;0.3	5.26	4.42	0.53409	HECT (4);	0.269016	0.37053	N	0.002264	T	0.56232	0.1971	L	0.39326	1.205	0.37488	D	0.916275	B	0.20459	0.045	B	0.36959	0.237	T	0.62025	-0.6941	10	0.59425	D	0.04	.	13.7378	0.62829	0.0:0.9268:0.0:0.0732	.	928	Q15034	HERC3_HUMAN	L	928;928;372	ENSP00000385684:S928L;ENSP00000264345:S928L;ENSP00000441703:S372L	ENSP00000264345:S928L	S	+	2	0	HERC3	89844397	0.998000	0.40836	0.992000	0.48379	0.949000	0.60115	3.886000	0.56190	1.453000	0.47775	0.655000	0.94253	TCA		0.458	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		27	159	0	0	0	1	0	27	159				
CCDC86	79080	broad.mit.edu	37	11	60609623	60609623	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:60609623G>A	ENST00000227520.5	+	1	80	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	9					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R9Q(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						AGGCGCAGCCGACGGCTGGGA	0.637																																						ENST00000227520.5																			1	Substitution - Missense(1)	p.R9Q(1)	urinary_tract(1)	endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(25-27)cGa>cAa		coiled-coil domain containing 86							14.0	15.0	15.0					11																	60609623		2185	4267	6452	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60609623G>A	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.26G>A	11.37:g.60609623G>A	ENSP00000227520:p.Arg9Gln					RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	p.R9Q	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			1	80	+			9					B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.26G>A	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341867	0.95783	.	.	ENSG00000110104	ENST00000227520;ENST00000339492	T	0.66995	-0.24	4.8	4.8	0.61643	.	0.185714	0.27023	N	0.021311	T	0.77980	0.4212	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77485	-0.2570	10	0.45353	T	0.12	-16.9935	13.2226	0.59896	0.0:0.0:1.0:0.0	.	9	Q9H6F5	CCD86_HUMAN	Q	9	ENSP00000227520:R9Q	ENSP00000227520:R9Q	R	+	2	0	CCDC86	60366199	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.971000	0.56831	2.501000	0.84356	0.561000	0.74099	CGA		0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		4	20	0	0	0	1	0	4	20				
TRIML2	205860	broad.mit.edu	37	4	189012916	189012916	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:189012916C>T	ENST00000512729.1	-	7	1149	c.775G>A	c.(775-777)Gac>Aac	p.D259N	TRIML2_ENST00000326754.3_Missense_Mutation_p.D284N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	259	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTTCCACGTCCACCTCCCAG	0.597																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(775-777)Gac>Aac		tripartite motif family-like 2							170.0	167.0	168.0					4																	189012916		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012916C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.775G>A	4.37:g.189012916C>T	ENSP00000422581:p.Asp259Asn					TRIML2_ENST00000326754.3_Missense_Mutation_p.D284N	p.D259N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1149	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	259			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.775G>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933707	0.52866	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.69175	-0.38;-0.38	5.64	4.8	0.61643	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.386819	0.22294	N	0.061952	T	0.72914	0.3520	M	0.79614	2.46	0.58432	D	0.999999	P;P	0.51147	0.942;0.942	P;P	0.47299	0.543;0.543	T	0.77403	-0.2601	10	0.59425	D	0.04	.	14.8422	0.70233	0.0:0.8554:0.1446:0.0	.	284;259	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	N	259;284	ENSP00000422581:D259N;ENSP00000317498:D284N	ENSP00000317498:D284N	D	-	1	0	TRIML2	189249910	0.000000	0.05858	0.897000	0.35233	0.286000	0.27126	0.444000	0.21661	1.531000	0.49152	-0.150000	0.13652	GAC		0.597	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		34	250	0	0	0	1	0	34	250				
FAM161B	145483	broad.mit.edu	37	14	74409245	74409245	+	Missense_Mutation	SNP	G	G	A	rs200522428		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:74409245G>A	ENST00000534936.1	-	4	1204	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	FAM161B_ENST00000286544.3_Missense_Mutation_p.R430W			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	367										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GGATTCACCCGAGGCTGGAAT	0.562																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1288-1290)Cgg>Tgg		family with sequence similarity 161, member B							140.0	139.0	140.0					14																	74409245		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74409245G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1099C>T	14.37:g.74409245G>A	ENSP00000445326:p.Arg367Trp					FAM161B_ENST00000534936.1_Missense_Mutation_p.R367W	p.R430W	NM_152445.2	NP_689658.2					4	1486	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1288C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.043413	0.75732	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.23552	1.9;1.9	5.5	3.52	0.40303	.	0.414785	0.23813	N	0.044313	T	0.48390	0.1497	M	0.78916	2.43	0.35371	D	0.789027	D	0.89917	1.0	D	0.65773	0.938	T	0.65150	-0.6238	10	0.87932	D	0	-10.7533	12.2601	0.54645	0.0:0.0:0.4857:0.5143	.	367	Q96MY7	F161B_HUMAN	W	430;367	ENSP00000286544:R430W;ENSP00000445326:R367W	ENSP00000286544:R430W	R	-	1	2	FAM161B	73478998	0.933000	0.31639	0.998000	0.56505	0.939000	0.58152	1.653000	0.37323	1.532000	0.49169	0.655000	0.94253	CGG		0.562	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		38	207	0	0	0	1	0	38	207				
C2orf16	84226	broad.mit.edu	37	2	27799876	27799876	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27799876C>A	ENST00000408964.2	+	1	488	c.437C>A	c.(436-438)tCt>tAt	p.S146Y		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	146						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCCCTAAATCTGCAAATTTG	0.383																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(436-438)tCt>tAt		chromosome 2 open reading frame 16							73.0	68.0	70.0					2																	27799876		1853	4103	5956	SO:0001583	missense	84226							g.chr2:27799876C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.437C>A	2.37:g.27799876C>A	ENSP00000386190:p.Ser146Tyr						p.S146Y	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	488	+	Acute lymphoblastic leukemia(172;0.155)		146					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.437C>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902865	0.52227	.	.	ENSG00000221843	ENST00000408964	T	0.10960	2.82	3.9	0.946	0.19549	.	.	.	.	.	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	B	0.30851	0.297	B	0.21708	0.036	T	0.33343	-0.9872	9	0.87932	D	0	.	4.2444	0.10665	0.4074:0.4787:0.0:0.1139	.	146	Q68DN1	CB016_HUMAN	Y	146	ENSP00000386190:S146Y	ENSP00000386190:S146Y	S	+	2	0	C2orf16	27653380	0.000000	0.05858	0.077000	0.20336	0.417000	0.31264	-0.727000	0.04931	0.373000	0.24621	0.563000	0.77884	TCT		0.383	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		11	93	1	0	1.58986e-06	1	1.63465e-06	11	93				
VPS13D	55187	broad.mit.edu	37	1	12520312	12520312	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12520312G>C	ENST00000358136.3	+	67	12653	c.12523G>C	c.(12523-12525)Gaa>Caa	p.E4175Q	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.E173Q|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4150Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTGAAAACAGAAGGGGGTGT	0.488																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(12523-12525)Gaa>Caa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							127.0	110.0	116.0					1																	12520312		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12520312G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12523G>C	1.37:g.12520312G>C	ENSP00000350854:p.Glu4175Gln					VPS13D_ENST00000543766.1_Missense_Mutation_p.E173Q|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4150Q	p.E4175Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	67	12653	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4174						Missense_Mutation	SNP	ENST00000358136.3	37	c.12523G>C	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.149300|5.149300	0.94645|0.94645	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766|ENST00000011700	T;T;T|.	0.00760|.	5.73;5.73;5.73|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73938|0.73938	0.3651|0.3651	L|L	0.59912|0.59912	1.85|1.85	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.963;0.997;0.997|.	P;P;P|.	0.62184|.	0.723;0.891;0.899|.	T|T	0.69045|0.69045	-0.5249|-0.5249	10|5	0.66056|.	D|.	0.02|.	.|.	20.422|20.422	0.99049|0.99049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;4150;4174|.	F5GX56;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	Q|H	4150;4175;173|2996	ENSP00000348666:E4150Q;ENSP00000350854:E4175Q;ENSP00000441122:E173Q|.	ENSP00000348666:E4150Q|.	E|Q	+|+	1|3	0|2	VPS13D|VPS13D	12442899|12442899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.254000|7.254000	0.78329|0.78329	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		14	121	0	0	0	1	0	14	121				
PRAMEF12	390999	broad.mit.edu	37	1	12837451	12837451	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12837451C>T	ENST00000357726.4	+	3	1188	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	387					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGAACCTCATCTCCATGG	0.612																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1159-1161)ctC>ctT		PRAME family member 12							103.0	109.0	107.0					1																	12837451		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837451C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1161C>T	1.37:g.12837451C>T							p.L387L	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1188	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	387						Silent	SNP	ENST00000357726.4	37	c.1161C>T	CCDS41254.1																																																																																				0.612	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		27	217	0	0	0	1	0	27	217				
CASP8	841	broad.mit.edu	37	2	202141586	202141586	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202141586C>T	ENST00000432109.2	+	8	886	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000358485.4_Missense_Mutation_p.R292W|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGCAAACCTCGGGGATACTG	0.428										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(874-876)Cgg>Tgg		caspase 8, apoptosis-related cysteine peptidase							79.0	76.0	77.0					2																	202141586		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202141586C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.697C>T	2.37:g.202141586C>T	ENSP00000412523:p.Arg233Trp	HNSCC(4;0.00038)				CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000432109.2_Missense_Mutation_p.R233W	p.R292W	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			7	1070	+			233					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.874C>T	CCDS2342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120327|3.120327	0.56613|0.56613	.|.	.|.	ENSG00000064012|ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492|ENST00000392259;ENST00000392266;ENST00000392258;ENST00000447616;ENST00000424461	D;D;D;D;D;D|.	0.84223|.	-1.53;-1.53;-1.82;-1.82;-1.53;-1.53|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase C14, caspase precursor p45, core (2);DEATH-like (1);Peptidase C14, ICE, catalytic subunit p20 (1);|.	0.194920|.	0.44097|.	D|.	0.000497|.	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.24115|0.24115	0.695|0.695	0.24514|0.24514	N|N	0.994191|0.994191	D;D;D;D;D;D|D;P	0.89917|0.62365	1.0;1.0;1.0;1.0;1.0;1.0|0.991;0.931	D;D;D;D;D;D|P;B	0.91635|0.45753	0.994;0.987;0.997;0.998;0.999;0.997|0.492;0.356	T|T	0.10428|0.10428	-1.0630|-1.0630	10|8	0.66056|0.33141	D|T	0.02|0.24	.|.	12.1349|12.1349	0.53966|0.53966	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	233;218;292;233;218;250|196;211	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4|Q14790-6;Q14790-5	.;.;.;CASP8_HUMAN;.;.|.;.	W|L	218;233;250;115;292;218;218|211;196;211;196;59	ENSP00000376091:R218W;ENSP00000412523:R233W;ENSP00000264275:R250W;ENSP00000391709:R115W;ENSP00000351273:R292W;ENSP00000325722:R218W|.	ENSP00000264275:R250W|ENSP00000376087:S211L	R|S	+|+	1|2	2|0	CASP8|CASP8	201849831|201849831	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.328000|0.328000	0.28507|0.28507	1.051000|1.051000	0.30417|0.30417	2.624000|2.624000	0.88883|0.88883	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.428	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		12	63	0	0	0	1	0	12	63				
POU2F1	5451	broad.mit.edu	37	1	167358976	167358976	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:167358976G>A	ENST00000541643.3	+	10	1058	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	POU2F1_ENST00000367866.2_Missense_Mutation_p.R322Q|POU2F1_ENST00000367862.5_Missense_Mutation_p.R311Q|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000452019.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R259Q|POU2F1_ENST00000420254.3_Missense_Mutation_p.R299Q			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	299	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AAACAAAGACGAATCAAACTT	0.483																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(931-933)cGa>cAa		POU class 2 homeobox 1							96.0	85.0	89.0					1																	167358976		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167358976G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.896G>A	1.37:g.167358976G>A	ENSP00000441285:p.Arg299Gln					POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R259Q|POU2F1_ENST00000541643.3_Missense_Mutation_p.R299Q|POU2F1_ENST00000452019.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.R299Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.R322Q	p.R311Q	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			9	1167	+			299			POU-specific.		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.932G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.077535	0.94000	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.88	5.88	0.94601	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.95252	0.8460	M	0.86864	2.845	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.994;0.996;0.99;0.993;0.994	D	0.95106	0.8234	10	0.87932	D	0	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	259;299;311;297;299	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	Q	322;259;297;299;299;311;207	ENSP00000356840:R322Q;ENSP00000401217:R259Q;ENSP00000356839:R297Q;ENSP00000414660:R299Q;ENSP00000441285:R299Q;ENSP00000356836:R311Q;ENSP00000415993:R207Q	ENSP00000356836:R311Q	R	+	2	0	POU2F1	165625600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.792000	0.96026	0.557000	0.71058	CGA		0.483	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		5	24	0	0	0	1	0	5	24				
MRPS23	51649	broad.mit.edu	37	17	55927329	55927329	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:55927329G>A	ENST00000313608.8	-	1	88	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	MRPS23_ENST00000578444.1_Splice_Site_p.R15W	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	15					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					AGCACACACCGAGAGAAGATG	0.667																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.e1+1		mitochondrial ribosomal protein S23							37.0	24.0	28.0					17																	55927329		2199	4295	6494	SO:0001630	splice_region_variant	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55927329G>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.44+1C>T	17.37:g.55927329G>A						MRPS23_ENST00000578444.1_Splice_Site_p.R15_splice	p.R15_splice	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			1	88	-	Breast(9;8.75e-08)		15					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Splice_Site	SNP	ENST00000313608.8	37	c.44_splice	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839522	0.51057	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.59	3.55	0.40652	Ribosomal protein S23/S25, mitochondrial (1);	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	M	0.90145	3.09	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.82955	-0.0200	9	0.87932	D	0	.	11.2654	0.49108	0.0:0.0:0.667:0.333	.	15	Q9Y3D9	RT23_HUMAN	W	15	.	ENSP00000320184:R15W	R	-	1	2	MRPS23	53282328	0.995000	0.38212	0.843000	0.33291	0.007000	0.05969	2.171000	0.42453	0.690000	0.31570	-0.122000	0.15005	CGG		0.667	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070	Missense_Mutation	3	15	0	0	0	1	0	3	15				
SLC39A12	221074	broad.mit.edu	37	10	18280209	18280209	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:18280209C>G	ENST00000377369.2	+	8	1672	c.1399C>G	c.(1399-1401)Ctt>Gtt	p.L467V	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L467V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L467V|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L333V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	467					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATGTTTTATTCTTCTTGTATC	0.308																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1399-1401)Ctt>Gtt		solute carrier family 39 (zinc transporter), member 12							78.0	87.0	84.0					10																	18280209		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18280209C>G		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1399C>G	10.37:g.18280209C>G	ENSP00000366586:p.Leu467Val					SLC39A12_ENST00000539911.1_Missense_Mutation_p.L333V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L467V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L467V	p.L467V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			8	1672	+			467					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1399C>G	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091027	0.76756	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.92	5.92	0.95590	.	0.125127	0.50627	D	0.000120	T	0.63177	0.2489	L	0.39692	1.235	0.58432	D	0.999998	D;B;D	0.89917	1.0;0.437;1.0	D;P;D	0.74348	0.983;0.511;0.983	T	0.61377	-0.7075	10	0.56958	D	0.05	-16.2397	20.3248	0.98698	0.0:1.0:0.0:0.0	.	467;467;467	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	V	467;467;467;333;387	ENSP00000366586:L467V;ENSP00000366591:L467V;ENSP00000366588:L467V;ENSP00000440445:L333V	ENSP00000366586:L467V	L	+	1	0	SLC39A12	18320215	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.389000	0.52516	2.818000	0.97014	0.655000	0.94253	CTT		0.308	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		5	49	0	0	0	1	0	5	49				
HNRNPCL1	343069	broad.mit.edu	37	1	12907710	12907710	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12907710G>A	ENST00000317869.6	-	2	658	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGACGTTGACGTTTCGAGGGC	0.488																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(433-435)Cgt>Tgt		heterogeneous nuclear ribonucleoprotein C-like 1							118.0	121.0	120.0					1																	12907710		2202	4299	6501	SO:0001583	missense	343069							g.chr1:12907710G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.433C>T	1.37:g.12907710G>A	ENSP00000365370:p.Arg145Cys						p.R145C	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	658	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.433C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	6.067	0.380684	0.11466	.	.	ENSG00000179172	ENST00000317869	T	0.17854	2.25	0.943	-0.39	0.12450	.	0.090746	0.39146	U	0.001453	T	0.25121	0.0610	L	0.52573	1.65	0.41573	D	0.988697	D	0.76494	0.999	D	0.63488	0.915	T	0.03739	-1.1008	10	0.87932	D	0	.	4.916	0.13846	0.0:0.0:0.3842:0.6157	.	145	O60812	HNRCL_HUMAN	C	145	ENSP00000365370:R145C	ENSP00000365370:R145C	R	-	1	0	HNRNPCL1	12830297	1.000000	0.71417	0.001000	0.08648	0.006000	0.05464	1.478000	0.35442	-0.097000	0.12307	0.416000	0.27883	CGT		0.488	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		34	193	0	0	0	1	0	34	193				
HP1BP3	50809	broad.mit.edu	37	1	21072088	21072088	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:21072088C>G	ENST00000312239.5	-	12	1454	c.1315G>C	c.(1315-1317)Gat>Cat	p.D439H	RP5-930J4.4_ENST00000413451.1_RNA|HP1BP3_ENST00000375003.2_Missense_Mutation_p.D287H	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	439					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GATGACTCATCTTCATCTTCA	0.448																																						ENST00000375003.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(859-861)Gat>Cat		heterochromatin protein 1, binding protein 3							127.0	114.0	119.0					1																	21072088		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21072088C>G	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1315G>C	1.37:g.21072088C>G	ENSP00000312625:p.Asp439His					HP1BP3_ENST00000312239.5_Missense_Mutation_p.D439H	p.D287H			Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	8	2359	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	439			H15 2.		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.859G>C	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461796	0.84425	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003	T;T	0.53423	0.62;0.64	5.63	5.63	0.86233	.	0.335009	0.38005	N	0.001847	T	0.46600	0.1401	N	0.24115	0.695	0.80722	D	1	P	0.52316	0.952	P	0.51453	0.67	T	0.46470	-0.9189	10	0.66056	D	0.02	-1.3017	15.5476	0.76118	0.0:1.0:0.0:0.0	.	439	Q5SSJ5	HP1B3_HUMAN	H	439;401;287	ENSP00000312625:D439H;ENSP00000364142:D287H	ENSP00000312625:D439H	D	-	1	0	HP1BP3	20944675	0.995000	0.38212	0.997000	0.53966	0.949000	0.60115	3.946000	0.56644	2.826000	0.97356	0.655000	0.94253	GAT		0.448	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		14	88	0	0	0	1	0	14	88				
CAPN15	6650	broad.mit.edu	37	16	603390	603390	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:603390C>T	ENST00000219611.2	+	14	3498	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1045					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCTTCTCTATCACCCACCGCC	0.677																																						ENST00000219611.2																			0											c.(3133-3135)atC>atT		calpain 15							61.0	62.0	62.0					16																	603390		2200	4299	6499	SO:0001819	synonymous_variant	6650							g.chr16:603390C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3135C>T	16.37:g.603390C>T						LA16c-366D1.3_ENST00000565879.1_RNA	p.I1045I	NM_005632.2	NP_005623.1					14	3498	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.3135C>T	CCDS10410.1																																																																																				0.677	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		16	116	0	0	0	1	0	16	116				
MAPKAP1	79109	broad.mit.edu	37	9	128321964	128321964	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:128321964C>T	ENST00000373498.1	-	5	864	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E74K|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E74K|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E266K|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.E266K			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	266	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GAGTACTTTTCAACCAGGGCC	0.473																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(796-798)Gaa>Aaa		mitogen-activated protein kinase associated protein 1							99.0	86.0	91.0					9																	128321964		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128321964C>T	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.796G>A	9.37:g.128321964C>T	ENSP00000362597:p.Glu266Lys					MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E266K|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E74K|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E74K	p.E266K	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			6	1128	-			266					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.796G>A	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	C	37	6.022925	0.97211	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000420643;ENST00000394060;ENST00000427078	.	.	.	5.93	5.93	0.95920	.	0.091173	0.85682	D	0.000000	T	0.74230	0.3689	M	0.69823	2.125	0.80722	D	1	D;P;P;P;P	0.57571	0.98;0.775;0.906;0.814;0.684	P;B;P;B;P	0.52909	0.592;0.356;0.713;0.342;0.553	T	0.75007	-0.3469	9	0.56958	D	0.05	-1.0295	20.3539	0.98825	0.0:1.0:0.0:0.0	.	266;266;266;266;266	Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;SIN1_HUMAN	K	266;266;74;266;266;74;74;266;74	.	ENSP00000265960:E266K	E	-	1	0	MAPKAP1	127361785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAA		0.473	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			11	89	0	0	0	1	0	11	89				
MED12	9968	broad.mit.edu	37	X	70357476	70357476	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:70357476G>C	ENST00000374080.3	+	40	5849	c.5817G>C	c.(5815-5817)caG>caC	p.Q1939H	MED12_ENST00000374102.1_Missense_Mutation_p.Q1938H|MED12_ENST00000333646.6_Missense_Mutation_p.Q1942H			Q93074	MED12_HUMAN	mediator complex subunit 12	1939	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACGGTTTGCAGACTTCCCAGG	0.527			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5824-5826)caG>caC		mediator complex subunit 12							80.0	71.0	74.0					X																	70357476		2009	4147	6156	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70357476G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5817G>C	X.37:g.70357476G>C	ENSP00000363193:p.Gln1939His					MED12_ENST00000374080.3_Missense_Mutation_p.Q1939H|MED12_ENST00000374102.1_Missense_Mutation_p.Q1938H|MED12_ENST00000478889.1_3'UTR	p.Q1942H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			40	6025	+	Renal(35;0.156)		1939			Gln-rich.|Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5826G>C	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	11.26|11.26	1.584910|1.584910	0.28268|0.28268	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750|ENST00000444034	T;T;T;T;T|.	0.60171|.	0.27;0.21;0.23;0.24;1.99|.	4.33|4.33	3.46|3.46	0.39613|0.39613	Mediator complex, subunit Med12, catenin-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56834|0.56834	0.2012|0.2012	L|L	0.43923|0.43923	1.385|1.385	0.39593|0.39593	D|D	0.969615|0.969615	D;D;P;P|.	0.62365|.	0.988;0.991;0.763;0.801|.	D;D;B;P|.	0.78314|.	0.984;0.991;0.347;0.478|.	T|T	0.54879|0.54879	-0.8227|-0.8227	10|5	0.59425|.	D|.	0.04|.	-6.2735|-6.2735	12.0936|12.0936	0.53742|0.53742	0.0869:0.0:0.9131:0.0|0.0869:0.0:0.9131:0.0	.|.	1939;1789;1938;1939|.	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074|.	.;.;.;MED12_HUMAN|.	H|T	1942;1939;1938;1939;1907;687|160	ENSP00000333125:Q1942H;ENSP00000363215:Q1938H;ENSP00000363193:Q1939H;ENSP00000414203:Q1907H;ENSP00000408388:Q687H|.	ENSP00000333125:Q1942H|.	Q|R	+|+	3|2	2|0	MED12|MED12	70274201|70274201	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.374000|0.374000	0.29953|0.29953	4.419000|4.419000	0.59835|0.59835	0.981000|0.981000	0.38548|0.38548	-0.344000|-0.344000	0.07964|0.07964	CAG|AGA		0.527	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		4	34	0	0	0	1	0	4	34				
ATXN7	6314	broad.mit.edu	37	3	63982159	63982159	+	Splice_Site	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:63982159G>C	ENST00000295900.6	+	12	3211	c.2661G>C	c.(2659-2661)caG>caC	p.Q887H	ATXN7_ENST00000398590.3_Splice_Site_p.Q887H|ATXN7_ENST00000484332.1_Splice_Site_p.Q742H|ATXN7_ENST00000487717.1_Splice_Site_p.Q887H|ATXN7_ENST00000538065.1_Splice_Site_p.Q887H	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	887					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCCTTCATCAGGTAGGAAATG	0.493																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.e12+1		ataxin 7							30.0	30.0	30.0					3																	63982159		2005	4139	6144	SO:0001630	splice_region_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63982159G>C	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2661+1G>C	3.37:g.63982159G>C						ATXN7_ENST00000487717.1_Splice_Site_p.Q887_splice|ATXN7_ENST00000484332.1_Splice_Site_p.Q742_splice|ATXN7_ENST00000538065.1_Splice_Site_p.Q887_splice|ATXN7_ENST00000295900.6_Splice_Site_p.Q887_splice	p.Q887_splice	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	3214	+		Prostate(884;0.0181)	887					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Splice_Site	SNP	ENST00000295900.6	37	c.2661_splice	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193390	0.78902	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332;ENST00000522345	T;T;T;T;T;T	0.61627	1.82;1.64;1.64;1.82;1.61;0.09	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.996	T	0.78285	-0.2263	10	0.87932	D	0	-8.8544	18.8797	0.92351	0.0:0.0:1.0:0.0	.	742;887;887	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	H	887;887;887;887;742;58	ENSP00000381590:Q887H;ENSP00000295900:Q887H;ENSP00000420234:Q887H;ENSP00000439585:Q887H;ENSP00000428277:Q742H;ENSP00000428067:Q58H	ENSP00000295900:Q887H	Q	+	3	2	ATXN7	63957199	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.367000	0.79558	2.538000	0.85594	0.650000	0.86243	CAG		0.493	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	Missense_Mutation	5	55	0	0	0	1	0	5	55				
FAM90A1	55138	broad.mit.edu	37	12	8375060	8375060	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:8375060G>C	ENST00000538603.1	-	7	1311	c.753C>G	c.(751-753)ctC>ctG	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(751-753)ctC>ctG		family with sequence similarity 90, member A1							29.0	47.0	41.0					12																	8375060		2105	4176	6281	SO:0001819	synonymous_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8375060G>C	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.753C>G	12.37:g.8375060G>C						FAM90A1_ENST00000307435.6_Silent_p.L251L	p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1311	-			251					D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	c.753C>G	CCDS31738.1																																																																																				0.662	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		9	158	0	0	0	1	0	9	158				
CHMP7	91782	broad.mit.edu	37	8	23115565	23115565	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:23115565C>T	ENST00000397677.1	+	6	1459	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	CHMP7_ENST00000313219.7_Missense_Mutation_p.R271W|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	271					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGAAGCCCGCCGGGCATGCCG	0.572																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(811-813)Cgg>Tgg		charged multivesicular body protein 7							77.0	88.0	84.0					8																	23115565		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23115565C>T	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.811C>T	8.37:g.23115565C>T	ENSP00000380794:p.Arg271Trp					CHMP7_ENST00000313219.7_Missense_Mutation_p.R271W|CHMP7_ENST00000520102.1_3'UTR	p.R271W	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	6	1459	+		Prostate(55;0.0513)	271					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.811C>T	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565188	0.45694	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.73258	-0.73;-0.73	5.75	2.89	0.33648	.	0.769449	0.12667	N	0.449113	T	0.54951	0.1890	N	0.14661	0.345	0.23743	N	0.996964	P;P	0.51791	0.876;0.948	P;B	0.45138	0.471;0.125	T	0.45818	-0.9235	10	0.72032	D	0.01	-13.96	7.0578	0.25109	0.4409:0.4802:0.0:0.0789	.	161;271	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	W	271	ENSP00000380794:R271W;ENSP00000324491:R271W	ENSP00000324491:R271W	R	+	1	2	CHMP7	23171510	0.993000	0.37304	0.995000	0.50966	0.904000	0.53231	1.729000	0.38115	0.319000	0.23209	-0.136000	0.14681	CGG		0.572	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		15	142	0	0	0	1	0	15	142				
KCNK9	51305	broad.mit.edu	37	8	140631230	140631230	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:140631230C>T	ENST00000520439.1	-	2	459	c.396G>A	c.(394-396)atG>atA	p.M132I	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.M132I	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	132					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGAAGGTGTTCATGCGCTCGC	0.582																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(394-396)atG>atA		potassium channel, subfamily K, member 9							101.0	79.0	87.0					8																	140631230		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631230C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.396G>A	8.37:g.140631230C>T	ENSP00000430676:p.Met132Ile					KCNK9_ENST00000303015.1_Missense_Mutation_p.M132I	p.M132I			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	459	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	132					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.396G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371077	0.24771	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.21932	1.98;1.98;1.98	5.85	5.85	0.93711	Ion transport 2 (1);	0.102679	0.64402	D	0.000001	T	0.10766	0.0263	N	0.01705	-0.755	0.80722	D	1	B	0.15930	0.015	B	0.22601	0.04	T	0.32561	-0.9902	10	0.20519	T	0.43	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	132	Q9NPC2	KCNK9_HUMAN	I	132	ENSP00000429847:M132I;ENSP00000302166:M132I;ENSP00000430676:M132I	ENSP00000302166:M132I	M	-	3	0	KCNK9	140700412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.304000	0.78882	2.753000	0.94483	0.655000	0.94253	ATG		0.582	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		5	49	0	0	0	1	0	5	49				
SLC25A33	84275	broad.mit.edu	37	1	9633463	9633463	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:9633463G>C	ENST00000302692.6	+	5	685	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	159					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		AATGCAGCTAGAACAGAAGTA	0.333																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(475-477)Gaa>Caa		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							88.0	88.0	88.0					1																	9633463		2202	4300	6502	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9633463G>C	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.475G>C	1.37:g.9633463G>C	ENSP00000306328:p.Glu159Gln						p.E159Q	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	5	685	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	159						Missense_Mutation	SNP	ENST00000302692.6	37	c.475G>C	CCDS103.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040148	0.55003	.	.	ENSG00000171612	ENST00000302692	T	0.75367	-0.93	5.46	5.46	0.80206	Mitochondrial carrier domain (2);	0.163825	0.64402	N	0.000020	T	0.55497	0.1924	N	0.03224	-0.385	0.44352	D	0.997249	B	0.25719	0.132	B	0.37198	0.243	T	0.54450	-0.8292	10	0.02654	T	1	-10.6161	16.8369	0.85959	0.0:0.0:1.0:0.0	.	159	Q9BSK2	S2533_HUMAN	Q	159	ENSP00000306328:E159Q	ENSP00000306328:E159Q	E	+	1	0	SLC25A33	9556050	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	7.657000	0.83745	2.719000	0.93026	0.555000	0.69702	GAA		0.333	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		4	28	0	0	0	1	0	4	28				
TRAV34	28648	broad.mit.edu	37	14	22675976	22675976	+	RNA	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:22675976C>T	ENST00000390461.2	+	0	300									T cell receptor alpha variable 34																		CCCTGCATATCACAGCCTCCC	0.498																																						ENST00000390461.2																			0																				62.0	68.0	66.0					14																	22675976		1983	4161	6144			28648							g.chr14:22675976C>T	AE000660		14q11.2	2012-02-07			ENSG00000211813	ENSG00000211813		"""T cell receptors / TRA locus"""	12133	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV26S1, TCRAV34S1			OTTHUMG00000170664		14.37:g.22675976C>T														0	300	+									RNA	SNP	ENST00000390461.2	37																																																																																						0.498	TRAV34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409912.1	NG_001332		14	45	0	0	0	1	0	14	45				
BTBD6	90135	broad.mit.edu	37	14	105716824	105716824	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105716824G>A	ENST00000392554.3	+	4	1570	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000446501.2_5'Flank|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.E425K|BTBD6_ENST00000463376.2_Missense_Mutation_p.E350K|BTBD6_ENST00000327471.3_Missense_Mutation_p.E350K			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	425						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GGTCCAGGTTGAACAAGACAC	0.577																																						ENST00000463376.2																			0				endometrium(1)|lung(3)	4						c.(1048-1050)Gaa>Aaa		BTB (POZ) domain containing 6							94.0	77.0	83.0					14																	105716824		2203	4300	6503	SO:0001583	missense	90135					cytoplasmic mRNA processing body		g.chr14:105716824G>A	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"""BTB/POZ domain containing"""	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.1273G>A	14.37:g.105716824G>A	ENSP00000376337:p.Glu425Lys					BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.E425K|BTBD6_ENST00000327471.3_Missense_Mutation_p.E350K|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.E425K	p.E350K			Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	3	1589	+		Melanoma(154;0.226)	425					Q8IVQ7|Q9BR94	Missense_Mutation	SNP	ENST00000392554.3	37	c.1048G>A	CCDS10002.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579900	0.86645	.	.	ENSG00000184887	ENST00000536364;ENST00000392554;ENST00000327471	T;T;T	0.73363	-0.74;-0.74;-0.63	5.16	5.16	0.70880	PHR (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.80032	-0.1552	9	.	.	.	-27.7857	16.1589	0.81683	0.0:0.0:1.0:0.0	.	425	Q96KE9	BTBD6_HUMAN	K	425;425;350	ENSP00000443091:E425K;ENSP00000376337:E425K;ENSP00000329361:E350K	.	E	+	1	0	BTBD6	104787869	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	9.659000	0.98597	2.392000	0.81423	0.655000	0.94253	GAA		0.577	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			19	72	0	0	0	1	0	19	72				
THEG	51298	broad.mit.edu	37	19	374409	374409	+	Silent	SNP	G	G	A	rs150793768		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:374409G>A	ENST00000342640.4	-	2	363	c.321C>T	c.(319-321)atC>atT	p.I107I	THEG_ENST00000346878.2_Silent_p.I107I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	107					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTGGCTGATGGACAGCC	0.592																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(319-321)atC>atT		theg spermatid protein							118.0	114.0	116.0					19																	374409		2203	4299	6502	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:374409G>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.321C>T	19.37:g.374409G>A						THEG_ENST00000346878.2_Silent_p.I107I	p.I107I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	363	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	107					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.321C>T	CCDS12025.1																																																																																				0.592	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			13	83	0	0	0	1	0	13	83				
FCRL4	83417	broad.mit.edu	37	1	157559097	157559097	+	Silent	SNP	G	G	A	rs150552645	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:157559097G>A	ENST00000271532.1	-	3	339	c.204C>T	c.(202-204)acC>acT	p.T68T	FCRL4_ENST00000448509.2_5'Flank	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	68	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTGGGGTCAGGGTCAACTTTT	0.512													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19157	0.0		0.0	False		,,,				2504	0.0					ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(202-204)acC>acT		Fc receptor-like 4		G		9,4397	15.5+/-35.6	0,9,2194	106.0	93.0	98.0		204	-7.1	0.0	1	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	FCRL4	NM_031282.2		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		68/516	157559097	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157559097G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.204C>T	1.37:g.157559097G>A							p.T68T	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			3	339	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	68			Ig-like C2-type 1.		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.204C>T	CCDS1166.1																																																																																				0.512	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		11	71	0	0	0	1	0	11	71				
NGLY1	55768	broad.mit.edu	37	3	25773840	25773840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:25773840C>T	ENST00000280700.5	-	9	1555	c.1395G>A	c.(1393-1395)tgG>tgA	p.W465*	NGLY1_ENST00000428257.1_Nonsense_Mutation_p.W447*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.W423*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.W465*	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	465	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GGGCTACTCTCCAAGCCACTG	0.413																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1339-1341)tgG>tgA		N-glycanase 1							92.0	101.0	98.0					3																	25773840		2203	4300	6503	SO:0001587	stop_gained	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25773840C>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1395G>A	3.37:g.25773840C>T	ENSP00000280700:p.Trp465*					NGLY1_ENST00000280700.5_Nonsense_Mutation_p.W465*|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.W423*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.W465*	p.W447*	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			9	1448	-			465					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Nonsense_Mutation	SNP	ENST00000280700.5	37	c.1341G>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	40	8.288255	0.98745	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1167	19.5954	0.95535	0.0:1.0:0.0:0.0	.	.	.	.	X	447;465;465;444;423	.	ENSP00000280700:W465X	W	-	3	0	NGLY1	25748844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.217000	0.77982	2.704000	0.92352	0.563000	0.77884	TGG		0.413	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			15	121	0	0	0	1	0	15	121				
MATR3	9782	broad.mit.edu	37	5	138657676	138657676	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:138657676G>T	ENST00000394805.3	+	10	2027	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V	MATR3_ENST00000502499.1_Silent_p.V226V|MATR3_ENST00000510056.1_Silent_p.V564V|MATR3_ENST00000504203.1_Silent_p.V226V|MATR3_ENST00000502929.1_Silent_p.V564V|MATR3_ENST00000394800.2_Silent_p.V564V|MATR3_ENST00000503811.1_Silent_p.V276V|MATR3_ENST00000361059.2_Silent_p.V564V|MATR3_ENST00000509990.1_Silent_p.V564V	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	564	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGAGATGTGTGAAGGTTGACC	0.358																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1690-1692)gtG>gtT		matrin 3							139.0	140.0	139.0					5																	138657676		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138657676G>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1692G>T	5.37:g.138657676G>T						MATR3_ENST00000509990.1_Silent_p.V564V|MATR3_ENST00000361059.2_Silent_p.V564V|MATR3_ENST00000394805.3_Silent_p.V564V|MATR3_ENST00000503811.1_Silent_p.V276V|MATR3_ENST00000504203.1_Silent_p.V226V|MATR3_ENST00000502499.1_Silent_p.V226V|MATR3_ENST00000502929.1_Silent_p.V564V|MATR3_ENST00000510056.1_Silent_p.V564V	p.V564V			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	2241	+			564			RRM 2.		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.1692G>T	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119497	0.20877	.	.	ENSG00000015479	ENST00000515833	.	.	.	5.09	0.483	0.16820	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.898	3.0564	0.06186	0.1654:0.1141:0.5599:0.1606	.	.	.	.	L	324	.	.	X	+	2	2	MATR3	138685575	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.421000	0.21280	0.146000	0.19002	-0.262000	0.10625	TGA		0.358	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		15	97	1	0	6.31663e-08	1	6.55612e-08	15	97				
CDK13	8621	broad.mit.edu	37	7	40027853	40027853	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:40027853G>A	ENST00000181839.4	+	2	2472	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CDK13_ENST00000340829.5_Missense_Mutation_p.D623N|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	623					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAAAGAAGCTGATAGGTAAGT	0.423																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1867-1869)Gat>Aat		cyclin-dependent kinase 13							62.0	55.0	57.0					7																	40027853		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027853G>A	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1867G>A	7.37:g.40027853G>A	ENSP00000181839:p.Asp623Asn					CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.D623N	p.D623N	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			2	2472	+			623					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1867G>A	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132931	0.77662	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.70399	-0.48;-0.42	6.02	6.02	0.97574	.	.	.	.	.	T	0.79399	0.4439	L	0.58101	1.795	0.53688	D	0.999975	B;D;D	0.60575	0.421;0.988;0.979	B;P;P	0.55545	0.08;0.778;0.679	T	0.76280	-0.3017	8	.	.	.	-14.781	20.5373	0.99239	0.0:0.0:1.0:0.0	.	9;623;623	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	N	623	ENSP00000181839:D623N;ENSP00000340557:D623N	.	D	+	1	0	CDK13	39994378	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.762000	0.85270	2.857000	0.98124	0.650000	0.86243	GAT		0.423	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		12	39	0	0	0	1	0	12	39				
CSMD3	114788	broad.mit.edu	37	8	113353843	113353843	+	Nonsense_Mutation	SNP	G	G	T	rs371585660		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:113353843G>T	ENST00000297405.5	-	42	6759	c.6515C>A	c.(6514-6516)tCa>tAa	p.S2172*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S2132*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S2068*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S2102*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2172	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTAGTTTCTGAGGATCCACT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6514-6516)tCa>tAa		CUB and Sushi multiple domains 3							116.0	110.0	112.0					8																	113353843		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113353843G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6515C>A	8.37:g.113353843G>T	ENSP00000297405:p.Ser2172*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S2102*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S2132*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S2068*	p.S2172*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			42	6759	-			2172			CUB 12.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.6515C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	47	13.828680	0.99765	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.56	4.56	0.56223	.	0.378458	0.23305	N	0.049630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	17.8784	0.88831	0.0:0.0:1.0:0.0	.	.	.	.	X	2132;2172;1442;2068;2102	.	ENSP00000297405:S2172X	S	-	2	0	CSMD3	113423019	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.106000	0.64597	2.520000	0.84964	0.655000	0.94253	TCA		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	48	1	0	0.00829132	1	0.0083485	9	48				
UHRF1BP1L	23074	broad.mit.edu	37	12	100489501	100489501	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:100489501C>T	ENST00000279907.7	-	7	996	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	UHRF1BP1L_ENST00000545232.2_5'Flank|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.E262K	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	262										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCTATTGCTTCACTAAGAGAC	0.338																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(784-786)Gaa>Aaa		UHRF1 binding protein 1-like							133.0	127.0	129.0					12																	100489501		2203	4298	6501	SO:0001583	missense	23074							g.chr12:100489501C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.784G>A	12.37:g.100489501C>T	ENSP00000279907:p.Glu262Lys					UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.E262K	p.E262K	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			7	996	-			262					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.784G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	33	5.291279	0.95546	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	T;T	0.32023	2.79;1.47	5.27	5.27	0.74061	.	0.053947	0.64402	D	0.000001	T	0.50154	0.1599	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.987;0.999	T	0.46992	-0.9151	10	0.52906	T	0.07	-17.3906	18.8845	0.92370	0.0:1.0:0.0:0.0	.	262;262	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	K	262	ENSP00000279907:E262K;ENSP00000349285:E262K	ENSP00000279907:E262K	E	-	1	0	UHRF1BP1L	99013632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.395000	0.79876	2.453000	0.82957	0.467000	0.42956	GAA		0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		5	50	0	0	0	1	0	5	50				
ZNF750	79755	broad.mit.edu	37	17	80790328	80790328	+	Start_Codon_SNP	SNP	C	C	G	rs200826990		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:80790328C>G	ENST00000269394.3	-	2	836	c.3G>C	c.(1-3)atG>atC	p.M1I	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	1					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGGAGACTCATTTTCCTCC	0.512																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1-3)atG>atC		zinc finger protein 750							52.0	57.0	55.0					17																	80790328		2177	4281	6458	SO:0001582	initiator_codon_variant	79755					intracellular	zinc ion binding	g.chr17:80790328C>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.3G>C	17.37:g.80790328C>G	ENSP00000269394:p.Met1Ile					TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	p.M1I	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	836	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	1					Q9H899	Translation_Start_Site	SNP	ENST00000269394.3	37	c.3G>C	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421011	0.83559	.	.	ENSG00000141579	ENST00000269394	T	0.32272	1.46	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.55915	-0.8065	8	.	.	.	-33.7684	18.7814	0.91934	0.0:1.0:0.0:0.0	.	1	Q32MQ0	ZN750_HUMAN	I	1	ENSP00000269394:M1I	.	M	-	3	0	ZNF750	78383617	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.191000	0.77763	2.675000	0.91044	0.561000	0.74099	ATG		0.512	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702	Missense_Mutation	13	52	0	0	0	1	0	13	52				
ASXL1	171023	broad.mit.edu	37	20	30954193	30954193	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:30954193G>A	ENST00000375687.4	+	2	488	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E18K|ASXL1_ENST00000542461.1_Missense_Mutation_p.E22K|ASXL1_ENST00000375689.1_Missense_Mutation_p.E18K|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	22					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCAGGTATTAGAAAACTACTC	0.373			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(64-66)Gaa>Aaa		additional sex combs like 1 (Drosophila)							165.0	156.0	159.0					20																	30954193		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:30954193G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.64G>A	20.37:g.30954193G>A	ENSP00000364839:p.Glu22Lys					ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Missense_Mutation_p.E22K|ASXL1_ENST00000375689.1_Missense_Mutation_p.E18K|ASXL1_ENST00000306058.5_Missense_Mutation_p.E18K	p.E22K	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			2	488	+			22					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.64G>A	CCDS13201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.621057|4.621057	0.87460|0.87460	.|.	.|.	ENSG00000171456|ENSG00000171456	ENST00000358956;ENST00000542189;ENST00000375687;ENST00000542461;ENST00000421155;ENST00000412498;ENST00000375689;ENST00000306058|ENST00000497249	T;T|.	0.52983|.	1.54;0.64|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72859|0.72859	0.3513|0.3513	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.72727|0.72727	-0.4206|-0.4206	10|5	0.87932|.	D|.	0|.	-14.8982|-14.8982	14.9949|14.9949	0.71425|0.71425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	22|.	Q8IXJ9|.	ASXL1_HUMAN|.	K|K	22;22;22;22;22;12;18;18|10	ENSP00000364839:E22K;ENSP00000305119:E18K|.	ENSP00000305119:E18K|.	E|R	+|+	1|2	0|0	ASXL1|ASXL1	30417854|30417854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.684000|0.684000	0.39900|0.39900	7.994000|7.994000	0.88315|0.88315	2.611000|2.611000	0.88343|0.88343	0.551000|0.551000	0.68910|0.68910	GAA|AGA		0.373	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		8	79	0	0	0	1	0	8	79				
PTEN	5728	broad.mit.edu	37	10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:89717661C>A	ENST00000371953.3	+	7	2043	c.686C>A	c.(685-687)tCa>tAa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCTCCAATTCAGGACCCACA	0.423		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(6)|Deletion - In frame(1)|Unknown(1)	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)	prostate(16)|central_nervous_system(15)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(685-687)tCa>tAa		phosphatase and tensin homolog							149.0	129.0	136.0					10																	89717661		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717661C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.686C>A	10.37:g.89717661C>A	ENSP00000361021:p.Ser229*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.S229*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2043	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	229			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.686C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	49	15.523259	0.99836	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.48	5.48	0.80851	.	0.183008	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.118	19.3305	0.94285	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	.	S	+	2	0	PTEN	89707641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.724000	0.68500	2.571000	0.86741	0.585000	0.79938	TCA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		13	119	1	0	2.27111e-07	1	2.3461e-07	13	119				
FAT2	2196	broad.mit.edu	37	5	150947413	150947413	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:150947413G>C	ENST00000261800.5	-	1	1092	c.1080C>G	c.(1078-1080)ctC>ctG	p.L360L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	360					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCGAATTTGAGGGAAGACA	0.552																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1078-1080)ctC>ctG		FAT atypical cadherin 2							78.0	85.0	83.0					5																	150947413		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947413G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1080C>G	5.37:g.150947413G>C							p.L360L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1092	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	360					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.1080C>G	CCDS4317.1																																																																																				0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		19	126	0	0	0	1	0	19	126				
RNF121	55298	broad.mit.edu	37	11	71668297	71668297	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:71668297G>C	ENST00000361756.3	+	2	449	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Intron|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000530137.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	30						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCTCTCTCCAGAAGAGCAATG	0.438																																						ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(88-90)Gaa>Caa		ring finger protein 121							170.0	162.0	164.0					11																	71668297		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71668297G>C	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.88G>C	11.37:g.71668297G>C	ENSP00000354571:p.Glu30Gln					RNF121_ENST00000530137.1_Intron|RNF121_ENST00000545854.1_Intron|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000533380.1_Intron	p.E30Q	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN			2	449	+			30					B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.88G>C	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571083	0.45798	.	.	ENSG00000137522	ENST00000361756	T	0.39229	1.09	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.72353	2.195	0.80722	D	1	B	0.23442	0.085	B	0.15052	0.012	T	0.43015	-0.9417	10	0.49607	T	0.09	.	15.4411	0.75184	0.0:0.0:1.0:0.0	.	30	Q9H920	RN121_HUMAN	Q	30	ENSP00000354571:E30Q	ENSP00000354571:E30Q	E	+	1	0	RNF121	71345945	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	8.201000	0.89735	2.506000	0.84524	0.467000	0.42956	GAA		0.438	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		13	93	0	0	0	1	0	13	93				
POMK	84197	broad.mit.edu	37	8	42958929	42958929	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:42958929G>C	ENST00000331373.5	+	4	493	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	80					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GCTGAGAACAGAAGTGAGACA	0.502																																						ENST00000331373.5																			0											c.(238-240)Gaa>Caa									99.0	77.0	84.0					8																	42958929		2203	4300	6503	SO:0001583	missense	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958929G>C		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.238G>C	8.37:g.42958929G>C	ENSP00000331258:p.Glu80Gln						p.E80Q	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			4	493	+			80						Missense_Mutation	SNP	ENST00000331373.5	37	c.238G>C	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006172	0.35415	.	.	ENSG00000185900	ENST00000518991;ENST00000331373	T;T	0.72942	-0.7;-0.7	5.16	3.26	0.37387	Protein kinase-like domain (1);	0.162693	0.52532	D	0.000062	T	0.65260	0.2674	M	0.63843	1.955	0.35923	D	0.831957	B	0.24721	0.11	B	0.17979	0.02	T	0.64605	-0.6368	10	0.28530	T	0.3	-3.4774	13.0966	0.59195	0.0:0.309:0.6909:0.0	.	80	Q9H5K3	SG196_HUMAN	Q	80	ENSP00000429090:E80Q;ENSP00000331258:E80Q	ENSP00000331258:E80Q	E	+	1	0	AC113191.1	43078086	1.000000	0.71417	0.972000	0.41901	0.706000	0.40770	3.620000	0.54203	0.499000	0.27970	0.511000	0.50034	GAA		0.502	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		10	50	0	0	0	1	0	10	50				
DCLK1	9201	broad.mit.edu	37	13	36401891	36401891	+	Splice_Site	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:36401891C>T	ENST00000360631.3	-	10	1499	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	DCLK1_ENST00000255448.4_Splice_Site_p.E430K|DCLK1_ENST00000379893.1_Splice_Site_p.E123K			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATCATGTGCTCCTGTCCAAAG	0.398																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.e10-1		doublecortin-like kinase 1							128.0	116.0	120.0					13																	36401891		2203	4300	6503	SO:0001630	splice_region_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36401891C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1288-1G>A	13.37:g.36401891C>T						DCLK1_ENST00000379893.1_Splice_Site_p.E123_splice|DCLK1_ENST00000360631.3_Splice_Site_p.E430_splice	p.E430_splice	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	10	1499	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	430			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Splice_Site	SNP	ENST00000360631.3	37	c.1287_splice		.	.	.	.	.	.	.	.	.	.	C	34	5.402402	0.96030	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.63744	-0.06;-0.06;-0.06	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	L	0.33189	0.99	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.76575	0.966;0.988;0.966	T	0.74256	-0.3724	10	0.72032	D	0.01	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	123;430;123	O15075-4;O15075-2;O15075-3	.;.;.	K	122;430;430;123;430	ENSP00000255448:E430K;ENSP00000353846:E430K;ENSP00000369223:E123K	ENSP00000255448:E430K	E	-	1	0	DCLK1	35299891	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.731000	0.84895	2.779000	0.95612	0.655000	0.94253	GAG		0.398	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	Missense_Mutation	9	104	0	0	0	1	0	9	104				
ELTD1	64123	broad.mit.edu	37	1	79470781	79470781	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:79470781G>A	ENST00000370742.3	-	2	209	c.146C>T	c.(145-147)tCa>tTa	p.S49L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	49	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACCATTTCCTGAAAATCCCAT	0.378																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(145-147)tCa>tTa		EGF, latrophilin and seven transmembrane domain containing 1							150.0	136.0	141.0					1																	79470781		1854	4107	5961	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470781G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.146C>T	1.37:g.79470781G>A	ENSP00000359778:p.Ser49Leu						p.S49L	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	209	-			49			EGF-like 1.		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.146C>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529633	0.64860	.	.	ENSG00000162618	ENST00000370742	T	0.38887	1.11	5.65	5.65	0.86999	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.159678	0.53938	D	0.000042	T	0.14874	0.0359	N	0.21508	0.67	0.37574	D	0.919557	P	0.35077	0.483	B	0.27887	0.084	T	0.05835	-1.0861	9	.	.	.	.	15.2285	0.73369	0.0:0.0:1.0:0.0	.	49	Q9HBW9	ELTD1_HUMAN	L	49	ENSP00000359778:S49L	.	S	-	2	0	ELTD1	79243369	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	5.183000	0.65065	2.668000	0.90789	0.591000	0.81541	TCA		0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		12	86	0	0	0	1	0	12	86				
HLA-DOA	3111	broad.mit.edu	37	6	32975186	32975186	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:32975186C>T	ENST00000229829.5	-	3	590	c.515G>A	c.(514-516)cGc>cAc	p.R172H	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	172	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GTGGAACTTGCGGAACAAATG	0.597																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(514-516)cGc>cAc		major histocompatibility complex, class II, DO alpha							173.0	174.0	174.0					6																	32975186		1511	2709	4220	SO:0001583	missense	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975186C>T	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.515G>A	6.37:g.32975186C>T	ENSP00000229829:p.Arg172His					HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H	p.R172H	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			3	590	-			172			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.515G>A	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012953	0.35511	.	.	ENSG00000204252	ENST00000229829;ENST00000450833	T;T	0.02916	4.11;4.11	4.64	4.64	0.57946	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.343498	0.30630	N	0.009210	T	0.02304	0.0071	N	0.11255	0.115	0.37354	D	0.910927	D;P	0.89917	1.0;0.717	D;B	0.69307	0.963;0.115	T	0.69503	-0.5128	10	0.15499	T	0.54	.	15.4237	0.75035	0.0:1.0:0.0:0.0	.	142;172	B4DW77;P06340	.;DOA_HUMAN	H	172;142	ENSP00000229829:R172H;ENSP00000403896:R142H	ENSP00000229829:R172H	R	-	2	0	HLA-DOA	33083164	0.986000	0.35501	0.998000	0.56505	0.925000	0.55904	0.510000	0.22723	2.565000	0.86533	0.655000	0.94253	CGC		0.597	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		5	243	0	0	0	1	0	5	243				
ZKSCAN5	23660	broad.mit.edu	37	7	99128793	99128793	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:99128793G>C	ENST00000394170.2	+	7	1692	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E481Q|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E481Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAATATTCAGAAGCAGACAT	0.338																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1441-1443)Gaa>Caa		zinc finger with KRAB and SCAN domains 5							114.0	130.0	124.0					7																	99128793		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99128793G>C	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1441G>C	7.37:g.99128793G>C	ENSP00000377725:p.Glu481Gln					ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E481Q|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E481Q	p.E481Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			7	1692	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		481					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1441G>C	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991416	0.35131	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.08282	3.11;3.11;3.11	4.96	4.08	0.47627	.	0.000000	0.56097	D	0.000025	T	0.03871	0.0109	N	0.08118	0	0.28850	N	0.896072	B;B	0.30584	0.286;0.123	B;B	0.25140	0.058;0.034	T	0.35599	-0.9782	10	0.22109	T	0.4	.	9.6084	0.39648	0.0951:0.0:0.9049:0.0	.	481;481	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	Q	481	ENSP00000322872:E481Q;ENSP00000392104:E481Q;ENSP00000377725:E481Q	ENSP00000322872:E481Q	E	+	1	0	ZKSCAN5	98966729	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.134000	0.50538	1.459000	0.47892	0.591000	0.81541	GAA		0.338	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		10	262	0	0	0	1	0	10	262				
NAIF1	203245	broad.mit.edu	37	9	130830799	130830799	+	5'Flank	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:130830799C>T	ENST00000373078.4	-	0	0				NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373069.5_Silent_p.V67V|SLC25A25_ENST00000373068.2_Silent_p.V67V	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1						negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTGTGTGTCAACGACCTGG	0.731																																						ENST00000373068.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(199-201)gtC>gtT		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							10.0	15.0	14.0					9																	130830799		2171	4263	6434	SO:0001631	upstream_gene_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130830799C>T	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727		9.37:g.130830799C>T	Exception_encountered					SLC25A25_ENST00000373069.5_Silent_p.V67V	p.V67V	NM_001006641.3	NP_001006642.1	Q6KCM7	SCMC2_HUMAN			1	320	+			100			EF-hand 1.		B3KV81|Q8WU12	Silent	SNP	ENST00000373078.4	37	c.201C>T	CCDS6889.1																																																																																				0.731	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		6	49	0	0	0	1	0	6	49				
LYG2	254773	broad.mit.edu	37	2	99858883	99858883	+	Missense_Mutation	SNP	C	C	T	rs569037546		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:99858883C>T	ENST00000409238.1	-	5	603	c.583G>A	c.(583-585)Gac>Aac	p.D195N	LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000333017.2_Missense_Mutation_p.D195N			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	195					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TTGACGAAGTCATTGTCTATG	0.443																																						ENST00000333017.2																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(583-585)Gac>Aac		lysozyme G-like 2							151.0	143.0	146.0					2																	99858883		2203	4300	6503	SO:0001583	missense	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99858883C>T	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.583G>A	2.37:g.99858883C>T	ENSP00000386939:p.Asp195Asn					LYG2_ENST00000409238.1_Missense_Mutation_p.D195N	p.D195N	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN			6	695	-			195					Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.583G>A	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090946	0.55968	.	.	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.22	3.42	0.39159	Lysozyme-like domain (1);	0.093111	0.46758	D	0.000280	T	0.39226	0.1070	L	0.56769	1.78	0.21355	N	0.999716	B	0.31989	0.35	B	0.38712	0.28	T	0.26430	-1.0103	8	.	.	.	-20.2013	6.4729	0.22018	0.179:0.7304:0.0:0.0907	.	195	Q86SG7	LYG2_HUMAN	N	195	.	.	D	-	1	0	LYG2	99225315	0.925000	0.31364	0.006000	0.13384	0.597000	0.36814	1.829000	0.39121	0.771000	0.33359	-0.251000	0.11542	GAC		0.443	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		13	163	0	0	0	1	0	13	163				
ENOSF1	55556	broad.mit.edu	37	18	697244	697244	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:697244C>T	ENST00000251101.7	-	3	393	c.305G>A	c.(304-306)aGa>aAa	p.R102K	ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.R123K|ENOSF1_ENST00000539164.1_Missense_Mutation_p.R102K|ENOSF1_ENST00000580982.1_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	102					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCTTACCCATCTGAGCTGCCC	0.448																																						ENST00000251101.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(304-306)aGa>aAa		enolase superfamily member 1							223.0	228.0	226.0					18																	697244		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:697244C>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.305G>A	18.37:g.697244C>T	ENSP00000251101:p.Arg102Lys					ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000539164.1_Missense_Mutation_p.R102K|ENOSF1_ENST00000340116.7_Missense_Mutation_p.R123K	p.R102K	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN			3	393	-			102					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.305G>A	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295043	0.95574	.	.	ENSG00000132199	ENST00000251101;ENST00000340116;ENST00000539164	T;T;T	0.47869	0.83;0.83;0.83	5.43	5.43	0.79202	Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	0.105878	0.64402	D	0.000001	T	0.72827	0.3509	M	0.92923	3.36	0.45762	D	0.998657	P;P;P	0.49696	0.927;0.917;0.84	P;P;P	0.55999	0.789;0.708;0.682	T	0.79836	-0.1635	10	0.66056	D	0.02	.	18.1826	0.89783	0.0:1.0:0.0:0.0	.	123;147;102	A6NMP3;Q6ZS08;Q7L5Y1	.;.;ENOF1_HUMAN	K	102;123;102	ENSP00000251101:R102K;ENSP00000345974:R123K;ENSP00000446321:R102K	ENSP00000251101:R102K	R	-	2	0	ENOSF1	687244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.550000	0.60733	2.595000	0.87683	0.644000	0.83932	AGA		0.448	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		56	356	0	0	0	1	0	56	356				
TOM1L2	146691	broad.mit.edu	37	17	17766143	17766143	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:17766143G>A	ENST00000379504.3	-	11	1187	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	TOM1L2_ENST00000542206.1_Silent_p.V220V|TOM1L2_ENST00000478943.1_Silent_p.V101V|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000581396.1_Silent_p.V318V|TOM1L2_ENST00000318094.10_Silent_p.V323V|TOM1L2_ENST00000395739.4_Silent_p.V323V|TOM1L2_ENST00000540946.1_Silent_p.V270V|TOM1L2_ENST00000535933.1_Silent_p.V315V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	368					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GGGTGCCACTGACGCTCTCTG	0.527																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(952-954)gtC>gtT		target of myb1-like 2 (chicken)							126.0	118.0	121.0					17																	17766143		2203	4300	6503	SO:0001819	synonymous_variant	146691				intracellular protein transport	intracellular		g.chr17:17766143G>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1104C>T	17.37:g.17766143G>A						TOM1L2_ENST00000478943.1_Silent_p.V101V|TOM1L2_ENST00000535933.1_Silent_p.V315V|TOM1L2_ENST00000379504.3_Silent_p.V368V|TOM1L2_ENST00000542206.1_Silent_p.V220V|TOM1L2_ENST00000540946.1_Silent_p.V270V|TOM1L2_ENST00000395739.4_Silent_p.V323V|TOM1L2_ENST00000318094.10_Silent_p.V323V	p.V318V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			10	1050	-	all_neural(463;0.228)		368					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	c.954C>T	CCDS42270.1																																																																																				0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			22	152	0	0	0	1	0	22	152				
B3GNT2	10678	broad.mit.edu	37	2	62449676	62449676	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:62449676G>A	ENST00000301998.4	+	2	573	c.321G>A	c.(319-321)acG>acA	p.T107T	B3GNT2_ENST00000405767.1_Silent_p.T107T	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	107					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CGGTGGTTACGGGTTTTAACA	0.493																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(319-321)acG>acA		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							194.0	217.0	209.0					2																	62449676		2203	4300	6503	SO:0001819	synonymous_variant	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449676G>A	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.321G>A	2.37:g.62449676G>A						B3GNT2_ENST00000405767.1_Silent_p.T107T	p.T107T	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	573	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		107					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Silent	SNP	ENST00000301998.4	37	c.321G>A	CCDS1870.1																																																																																				0.493	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		5	517	0	0	0	1	0	5	517				
COL6A1	1291	broad.mit.edu	37	21	47423455	47423455	+	Missense_Mutation	SNP	G	G	A	rs377586358		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:47423455G>A	ENST00000361866.3	+	35	2729	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	872	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CACGACGTGCGGGTGGCGGTG	0.697																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2614-2616)cGg>cAg		collagen, type VI, alpha 1	Palifermin(DB00039)	G	GLN/ARG	2,4370		0,2,2184	20.0	23.0	22.0		2615	4.0	0.6	21		22	0,8554		0,0,4277	no	missense	COL6A1	NM_001848.2	43	0,2,6461	AA,AG,GG		0.0,0.0457,0.0155	possibly-damaging	872/1029	47423455	2,12924	2186	4277	6463	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423455G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2615G>A	21.37:g.47423455G>A	ENSP00000355180:p.Arg872Gln					COL6A1_ENST00000498614.1_3'UTR	p.R872Q	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2729	+	all_hematologic(128;0.24)		872			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2615G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407567	0.42715	4.57E-4	0.0	ENSG00000142156	ENST00000361866	D	0.85861	-2.04	4.84	3.96	0.45880	von Willebrand factor, type A (3);	0.167528	0.41097	N	0.000955	T	0.79713	0.4493	L	0.48362	1.52	0.53005	D	0.999962	P	0.48162	0.906	B	0.39379	0.298	T	0.79470	-0.1790	10	0.49607	T	0.09	-12.2598	12.897	0.58106	0.0792:0.0:0.9208:0.0	.	872	P12109	CO6A1_HUMAN	Q	872	ENSP00000355180:R872Q	ENSP00000355180:R872Q	R	+	2	0	COL6A1	46247883	1.000000	0.71417	0.636000	0.29352	0.034000	0.12701	4.388000	0.59633	1.037000	0.40024	0.530000	0.56133	CGG		0.697	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		8	60	0	0	0	1	0	8	60				
CCDC78	124093	broad.mit.edu	37	16	774385	774385	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:774385C>T	ENST00000293889.6	-	9	995	c.890G>A	c.(889-891)cGc>cAc	p.R297H	HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	297					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GTGGTAGCTGCGGGCAGCCCG	0.677																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(889-891)cGc>cAc		coiled-coil domain containing 78							51.0	58.0	56.0					16																	774385		2200	4296	6496	SO:0001583	missense	124093							g.chr16:774385C>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.890G>A	16.37:g.774385C>T	ENSP00000293889:p.Arg297His						p.R297H	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			9	995	-		Hepatocellular(780;0.0218)	297					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.890G>A	CCDS32353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.942|9.942	1.217770|1.217770	0.22373|0.22373	.|.	.|.	ENSG00000162004|ENSG00000162004	ENST00000345165|ENST00000293889	.|T	.|0.35605	.|1.3	4.86|4.86	1.88|1.88	0.25563|0.25563	.|.	.|0.149804	.|0.40064	.|N	.|0.001188	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.45137|0.45137	1.4|1.4	0.24585|0.24585	N|N	0.993855|0.993855	.|B;B;B	.|0.31989	.|0.35;0.35;0.35	.|B;B;B	.|0.26202	.|0.067;0.067;0.067	T|T	0.13548|0.13548	-1.0505|-1.0505	5|10	.|0.54805	.|T	.|0.06	-11.6037|-11.6037	8.0632|8.0632	0.30646|0.30646	0.0:0.7308:0.0:0.2692|0.0:0.7308:0.0:0.2692	.|.	.|56;297;146	.|D3DU63;A2IDD5;D3DU61	.|.;CCD78_HUMAN;.	T|H	146|297	.|ENSP00000293889:R297H	.|ENSP00000293889:R297H	A|R	-|-	1|2	0|0	CCDC78|CCDC78	714386|714386	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.200000|0.200000	0.23975|0.23975	-0.206000|-0.206000	0.09398|0.09398	0.270000|0.270000	0.21984|0.21984	0.543000|0.543000	0.68304|0.68304	GCA|CGC		0.677	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		4	150	0	0	0	1	0	4	150				
C14orf119	55017	broad.mit.edu	37	14	23567289	23567289	+	Nonstop_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:23567289G>C	ENST00000319074.4	+	2	1278	c.422G>C	c.(421-423)tGa>tCa	p.*141S	ACIN1_ENST00000555053.1_5'Flank|ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000457657.1_5'Flank|ACIN1_ENST00000262710.1_5'Flank|C14orf119_ENST00000554203.1_Nonstop_Mutation_p.*141S	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	0						mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		GGTAAGGACTGATAGGCATTC	0.468																																						ENST00000319074.4																			0				central_nervous_system(1)|endometrium(1)|lung(1)	3						c.(421-423)tGa>tCa		chromosome 14 open reading frame 119							50.0	52.0	52.0					14																	23567289		2203	4300	6503	SO:0001578	stop_lost	55017							g.chr14:23567289G>C		CCDS9588.1	14q11.2	2012-09-25			ENSG00000179933	ENSG00000179933			20270	protein-coding gene	gene with protein product							Standard	NM_017924		Approved	FLJ20671	uc001wiu.3	Q9NWQ9	OTTHUMG00000028717	ENST00000319074.4:c.422G>C	14.37:g.23567289G>C	ENSP00000322238:p.*141Serext*1					C14orf119_ENST00000554203.1_Nonstop_Mutation_p.*141S	p.*141S	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	2	1278	+	all_cancers(95;4.6e-05)		0					Q6IAA7	Nonstop_Mutation	SNP	ENST00000319074.4	37	c.422G>C	CCDS9588.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053743	0.55218	.	.	ENSG00000179933	ENST00000319074;ENST00000554203	.	.	.	6.11	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.496	0.44777	0.209:0.0:0.791:0.0	.	.	.	.	S	141	.	.	X	+	2	2	C14orf119	22637129	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	1.583000	0.36579	1.600000	0.50102	0.655000	0.94253	TGA		0.468	C14orf119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071713.3	NM_017924		4	89	0	0	0	1	0	4	89				
ASIC3	9311	broad.mit.edu	37	7	150748943	150748943	+	Missense_Mutation	SNP	G	G	A	rs559456655		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:150748943G>A	ENST00000349064.5	+	7	1459	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	ASIC3_ENST00000297512.8_Missense_Mutation_p.E421K|ASIC3_ENST00000357922.4_Missense_Mutation_p.E421K	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	421					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCTCAACTATGAGACCGTGGA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12076	0.0		0.0	False		,,,				2504	0.0					ENST00000357922.4																			0											c.(1261-1263)Gag>Aag		acid-sensing (proton-gated) ion channel 3							111.0	102.0	105.0					7																	150748943		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150748943G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1261G>A	7.37:g.150748943G>A	ENSP00000344838:p.Glu421Lys					ASIC3_ENST00000349064.5_Missense_Mutation_p.E421K|ASIC3_ENST00000297512.8_Missense_Mutation_p.E421K	p.E421K	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			7	1855	+			421					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.1261G>A	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.76|19.76	3.887609|3.887609	0.72410|0.72410	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512;ENST00000490540|ENST00000485929	T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3|.	4.7|4.7	3.8|3.8	0.43715|0.43715	.|.	0.000000|.	0.38436|.	U|.	0.001683|.	T|T	0.60983|0.60983	0.2311|0.2311	L|L	0.53249|0.53249	1.67|1.67	0.43408|0.43408	D|D	0.995546|0.995546	D;P;D|.	0.76494|.	0.996;0.537;0.999|.	D;P;D|.	0.83275|.	0.996;0.542;0.995|.	T|T	0.56926|0.56926	-0.7898|-0.7898	10|6	0.17832|0.30854	T|T	0.49|0.27	-13.6085|-13.6085	12.4914|12.4914	0.55901|0.55901	0.0:0.1701:0.8298:0.0|0.0:0.1701:0.8298:0.0	.|.	421;421;421|.	Q9UHC3-2;Q9UHC3-3;Q9UHC3|.	.;.;ACCN3_HUMAN|.	K|I	421;421;421;52|46	ENSP00000350600:E421K;ENSP00000344838:E421K;ENSP00000297512:E421K;ENSP00000418361:E52K|.	ENSP00000297512:E421K|ENSP00000367136:M371I	E|M	+|+	1|3	0|0	ACCN3|ACCN3	150379876|150379876	1.000000|1.000000	0.71417|0.71417	0.052000|0.052000	0.19188|0.19188	0.717000|0.717000	0.41224|0.41224	7.634000|7.634000	0.83273|0.83273	0.936000|0.936000	0.37367|0.37367	0.586000|0.586000	0.80456|0.80456	GAG|ATG		0.612	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		16	107	0	0	0	1	0	16	107				
TAF1L	138474	broad.mit.edu	37	9	32631191	32631191	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:32631191C>T	ENST00000242310.4	-	1	4476	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1463	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTCTGAACTCTTCCCGAGAT	0.448																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4387-4389)Gag>Aag		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							204.0	179.0	188.0					9																	32631191		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631191C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4387G>A	9.37:g.32631191C>T	ENSP00000418379:p.Glu1463Lys						p.E1463K	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4476	-			1463			Bromo 1.		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4387G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208132	0.95033	.	.	ENSG00000122728	ENST00000242310	T	0.34072	1.38	1.17	1.17	0.20885	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.89163	3.01	0.49687	D	0.99981	D	0.53619	0.961	P	0.52856	0.711	T	0.55451	-0.8139	10	0.54805	T	0.06	.	8.1775	0.31292	0.0:1.0:0.0:0.0	.	1463	Q8IZX4	TAF1L_HUMAN	K	1463	ENSP00000418379:E1463K	ENSP00000418379:E1463K	E	-	1	0	TAF1L	32621191	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	5.098000	0.64548	0.514000	0.28300	0.205000	0.17691	GAG		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			89	182	0	0	0	1	0	89	182				
GABRA6	2559	broad.mit.edu	37	5	161118948	161118948	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:161118948G>A	ENST00000274545.5	+	8	1261	c.828G>A	c.(826-828)ggG>ggA	p.G276G	GABRA6_ENST00000523217.1_Splice_Site_p.G266G|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	276					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTATTTTAGGGATCACCACTG	0.388										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.e8-1		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111.0	114.0	113.0					5																	161118948		2203	4300	6503	SO:0001630	splice_region_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161118948G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.827-1G>A	5.37:g.161118948G>A		TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Splice_Site_p.G276_splice	p.G266_splice	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1040	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	276					A8K096|Q4VAV2	Splice_Site	SNP	ENST00000274545.5	37	c.796_splice	CCDS4356.1																																																																																				0.388	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		Silent	16	124	0	0	0	1	0	16	124				
MIR31HG	554202	broad.mit.edu	37	9	21512181	21512181	+	RNA	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:21512181C>G	ENST00000304425.3	-	0	181				MIR31_ENST00000362307.1_RNA	NR_027054.1				MIR31 host gene (non-protein coding)																		CTTGCCTCCTCTCCAGTTCCA	0.453																																						ENST00000304425.3																			0																				123.0	108.0	113.0					9																	21512181		1568	3582	5150			554202							g.chr9:21512181C>G	AK124391		9p21.3	2014-07-18			ENSG00000171889	ENSG00000171889		"""-"""	37187	non-coding RNA	RNA, long non-coding						15364902, 22289355, 24631686	Standard	NR_027054		Approved	LOC554202	uc003zpe.2		OTTHUMG00000019681		9.37:g.21512181C>G						MIR31_ENST00000362307.1_RNA		NR_027054.1						0	181	-									RNA	SNP	ENST00000304425.3	37																																																																																						0.453	MIR31HG-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000051910.1	NR_027054		13	77	0	0	0	1	0	13	77				
OR2M5	127059	broad.mit.edu	37	1	248309153	248309153	+	Missense_Mutation	SNP	G	G	A	rs145157861	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:248309153G>A	ENST00000366476.1	+	1	704	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAGGGTCGTCGCAAAGCTTTT	0.468													g|||	28	0.00559105	0.0159	0.0029	5008	,	,		21844	0.0		0.003	False		,,,				2504	0.002					ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(703-705)cGc>cAc		olfactory receptor, family 2, subfamily M, member 5		G	HIS/ARG	55,4351	54.2+/-90.2	0,55,2148	256.0	240.0	246.0		704	-2.1	0.0	1	dbSNP_134	246	16,8584	11.9+/-42.8	0,16,4284	no	missense	OR2M5	NM_001004690.1	29	0,71,6432	AA,AG,GG		0.186,1.2483,0.5459	benign	235/313	248309153	71,12935	2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309153G>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.704G>A	1.37:g.248309153G>A	ENSP00000355432:p.Arg235His						p.R235H	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	704	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		235						Missense_Mutation	SNP	ENST00000366476.1	37	c.704G>A	CCDS31105.1	9	0.004120879120879121	7	0.014227642276422764	0	0.0	0	0.0	2	0.002638522427440633	g	7.696	0.691984	0.15039	0.012483	0.00186	ENSG00000162727	ENST00000366476	T	0.00034	8.87	3.28	-2.12	0.07165	GPCR, rhodopsin-like superfamily (1);	1.276350	0.06104	N	0.665935	T	0.00073	0.0002	N	0.11845	0.185	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.04153	-1.0973	10	0.44086	T	0.13	.	8.4162	0.32672	0.6557:0.0:0.3443:0.0	.	235	A3KFT3	OR2M5_HUMAN	H	235	ENSP00000355432:R235H	ENSP00000355432:R235H	R	+	2	0	OR2M5	246375776	0.000000	0.05858	0.009000	0.14445	0.800000	0.45204	-3.370000	0.00494	-0.419000	0.07439	0.492000	0.49549	CGC		0.468	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		5	309	0	0	0	1	0	5	309				
JAG2	3714	broad.mit.edu	37	14	105609893	105609893	+	Missense_Mutation	SNP	C	C	T	rs376433872		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105609893C>T	ENST00000331782.3	-	25	3570	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	JAG2_ENST00000347004.2_Missense_Mutation_p.R1018Q	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1056					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCTGTTCCCCCGCTGGGTGAT	0.677																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3166-3168)cGg>cAg		jagged 2		C	GLN/ARG,GLN/ARG	1,4391		0,1,2195	40.0	33.0	36.0		3167,3053	2.5	0.9	14		36	0,8584		0,0,4292	no	missense,missense	JAG2	NM_002226.3,NM_145159.1	43,43	0,1,6487	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	1056/1239,1018/1201	105609893	1,12975	2196	4292	6488	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609893C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3167G>A	14.37:g.105609893C>T	ENSP00000328169:p.Arg1056Gln					JAG2_ENST00000347004.2_Missense_Mutation_p.R1018Q	p.R1056Q	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	25	3570	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1056					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3167G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612560	0.66672	2.28E-4	0.0	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.87179	-2.22;-2.22	4.55	2.51	0.30379	.	0.135399	0.50627	D	0.000117	D	0.91331	0.7266	M	0.77820	2.39	0.37404	D	0.912959	D;P	0.89917	1.0;0.891	D;B	0.64042	0.921;0.302	D	0.92011	0.5618	10	0.52906	T	0.07	.	10.867	0.46862	0.0:0.7731:0.1422:0.0847	.	1018;1056	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	Q	1056;1018	ENSP00000328169:R1056Q;ENSP00000328566:R1018Q	ENSP00000328169:R1056Q	R	-	2	0	JAG2	104680938	0.437000	0.25593	0.876000	0.34364	0.514000	0.34195	1.308000	0.33528	0.895000	0.36342	0.313000	0.20887	CGG		0.677	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	20	0	0	0	1	0	6	20				
EFNA3	1944	broad.mit.edu	37	1	155058671	155058671	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:155058671C>T	ENST00000368408.3	+	4	646	c.576C>T	c.(574-576)atC>atT	p.I192I	EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000556931.1_Silent_p.I187I|EFNA3_ENST00000505139.1_Silent_p.I187I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	192					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATGTGAAGATCAACGTGCTGG	0.697											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(574-576)atC>atT		ephrin-A3							41.0	41.0	41.0					1																	155058671		2203	4299	6502	SO:0001819	synonymous_variant	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058671C>T	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.576C>T	1.37:g.155058671C>T			OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_ENST00000505139.1_Silent_p.I187I|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000556931.1_Silent_p.I187I	p.I192I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	646	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		192					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Silent	SNP	ENST00000368408.3	37	c.576C>T	CCDS1090.1																																																																																				0.697	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		7	37	0	0	0	1	0	7	37				
GPRASP1	9737	broad.mit.edu	37	X	101909130	101909130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:101909130C>T	ENST00000361600.5	+	5	1090	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.Q97*|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	97					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GATGTGGGCTCAGCCCAGGTT	0.493																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(289-291)Cag>Tag		G protein-coupled receptor associated sorting protein 1							130.0	131.0	130.0					X																	101909130		2203	4300	6503	SO:0001587	stop_gained	9737					cytoplasm	protein binding	g.chrX:101909130C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.289C>T	X.37:g.101909130C>T	ENSP00000355146:p.Gln97*					GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q97*|RP4-769N13.7_ENST00000602441.1_RNA	p.Q97*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	1102	+			97					O43168|Q96LA1	Nonsense_Mutation	SNP	ENST00000361600.5	37	c.289C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	39	7.891678	0.98545	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.24	0.378	0.16204	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.2233	5.0854	0.14678	0.2226:0.3424:0.435:0.0	.	.	.	.	X	97	.	ENSP00000355146:Q97X	Q	+	1	0	GPRASP1	101795786	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	0.442000	0.21628	-0.007000	0.14345	0.292000	0.19580	CAG		0.493	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		19	259	0	0	0	1	0	19	259				
ZFC3H1	196441	broad.mit.edu	37	12	72020069	72020069	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:72020069A>G	ENST00000378743.3	-	22	4646	c.4288T>C	c.(4288-4290)Tat>Cat	p.Y1430H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1430					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						TCTGGAGCATATTCAACAGCT	0.388																																						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.(4288-4290)Tat>Cat		zinc finger, C3H1-type containing							176.0	170.0	172.0					12																	72020069		1933	4131	6064	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72020069A>G	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.4288T>C	12.37:g.72020069A>G	ENSP00000368017:p.Tyr1430His						p.Y1430H	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			22	4646	-			1430					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4288T>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261090	0.59431	.	.	ENSG00000133858	ENST00000378743	T	0.33216	1.42	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.062767	0.64402	D	0.000004	T	0.24699	0.0599	L	0.29908	0.895	0.80722	D	1	B	0.24618	0.107	B	0.22386	0.039	T	0.03587	-1.1022	10	0.27785	T	0.31	.	15.8443	0.78876	1.0:0.0:0.0:0.0	.	1430	O60293	ZC3H1_HUMAN	H	1430	ENSP00000368017:Y1430H	ENSP00000368017:Y1430H	Y	-	1	0	ZFC3H1	70306336	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.494000	0.66905	2.194000	0.70268	0.528000	0.53228	TAT		0.388	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		15	121	0	0	0	1	0	15	121				
PSD4	23550	broad.mit.edu	37	2	113951501	113951501	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:113951501G>A	ENST00000245796.6	+	10	2352	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	PSD4_ENST00000441564.3_Silent_p.G691G	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	719	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGATGGCGGGAACTTCCCCA	0.537																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2155-2157)ggG>ggA		pleckstrin and Sec7 domain containing 4							101.0	98.0	99.0					2																	113951501		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113951501G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2157G>A	2.37:g.113951501G>A						PSD4_ENST00000441564.2_Silent_p.G691G	p.G719G	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			10	2352	+			719			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.2157G>A	CCDS33276.1																																																																																				0.537	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		10	86	0	0	0	1	0	10	86				
KDM8	79831	broad.mit.edu	37	16	27221654	27221654	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:27221654G>A	ENST00000286096.4	+	2	383	c.210G>A	c.(208-210)gtG>gtA	p.V70V	CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000441782.2_Silent_p.V108V|KDM8_ENST00000380948.2_Silent_p.V70V|KDM8_ENST00000568965.1_Silent_p.V70V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	70					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										GCAGCGAGGTGATCCTGGACT	0.607																																						ENST00000286096.4																			0											c.(208-210)gtG>gtA		lysine (K)-specific demethylase 8							86.0	59.0	68.0					16																	27221654		2197	4298	6495	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27221654G>A	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.210G>A	16.37:g.27221654G>A						KDM8_ENST00000441782.2_Silent_p.V108V|KDM8_ENST00000380948.2_Silent_p.V70V|KDM8_ENST00000568965.1_Silent_p.V70V	p.V70V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN			2	383	+			70					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.210G>A	CCDS10627.1																																																																																				0.607	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		6	76	0	0	0	1	0	6	76				
ARHGAP6	395	broad.mit.edu	37	X	11308547	11308547	+	Intron	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:11308547C>T	ENST00000337414.4	-	2	1461				ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000380714.3_5'Flank|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.D214N|AMELX_ENST00000380712.3_5'Flank|AMELX_ENST00000348912.4_5'Flank	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6						actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGATGTGTATCGGAATTCATC	0.393																																						ENST00000380732.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(640-642)Gat>Aat		Rho GTPase activating protein 6							138.0	132.0	134.0					X																	11308547		1849	4087	5936	SO:0001627	intron_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11308547C>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.589-35720G>A	X.37:g.11308547C>T						ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron	p.D214N			O43182	RHG06_HUMAN			2	639	-			196					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.640G>A	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.590766	0.00864	.	.	ENSG00000047648	ENST00000380717;ENST00000380732	T;T	0.24350	1.86;1.87	3.16	-4.86	0.03132	.	.	.	.	.	T	0.11324	0.0276	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31166	-0.9953	6	0.14656	T	0.56	.	6.2254	0.20706	0.1228:0.4188:0.0:0.4584	.	.	.	.	N	18;214	ENSP00000370093:D18N;ENSP00000370108:D214N	ENSP00000370093:D18N	D	-	1	0	ARHGAP6	11218468	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.233000	0.00269	-2.132000	0.00814	-1.231000	0.01572	GAT		0.393	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		17	89	0	0	0	1	0	17	89				
TMEM50B	757	broad.mit.edu	37	21	34839412	34839412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:34839412C>T	ENST00000542230.2	-	3	331	c.117G>A	c.(115-117)tgG>tgA	p.W39*	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	39						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CAATCATTATCCACCAGCCTG	0.398																																						ENST00000542230.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4						c.(115-117)tgG>tgA		transmembrane protein 50B							113.0	104.0	107.0					21																	34839412		2203	4300	6503	SO:0001587	stop_gained	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34839412C>T	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.117G>A	21.37:g.34839412C>T	ENSP00000439768:p.Trp39*						p.W39*	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN			3	331	-			39					B2R4L4|D3DSF1|O60537|Q5PY47	Nonsense_Mutation	SNP	ENST00000542230.2	37	c.117G>A	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	39	7.684092	0.98431	.	.	ENSG00000142188	ENST00000542230;ENST00000440644;ENST00000432504;ENST00000435619	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7565	18.6497	0.91427	0.0:1.0:0.0:0.0	.	.	.	.	X	39	.	ENSP00000371390:W39X	W	-	3	0	TMEM50B	33761282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.131000	0.77243	2.703000	0.92315	0.549000	0.68633	TGG		0.398	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			9	44	0	0	0	1	0	9	44				
SART1	9092	broad.mit.edu	37	11	65734019	65734019	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65734019G>C	ENST00000312397.5	+	9	1272	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	394					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTCACGCCTGAGGAGATGGT	0.677																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1180-1182)Gag>Cag		squamous cell carcinoma antigen recognized by T cells							10.0	12.0	11.0					11																	65734019		2192	4287	6479	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65734019G>C	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1180G>C	11.37:g.65734019G>C	ENSP00000310448:p.Glu394Gln						p.E394Q	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN			9	1272	+			394					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1180G>C	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	5.624	0.299907	0.10622	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.24350	1.86	4.49	2.37	0.29283	.	0.151865	0.44097	D	0.000495	T	0.17831	0.0428	L	0.33189	0.99	0.44345	D	0.99723	B	0.20261	0.043	B	0.17098	0.017	T	0.07290	-1.0780	10	0.87932	D	0	-37.6225	7.6799	0.28507	0.1033:0.2122:0.6845:0.0	.	394	O43290	SNUT1_HUMAN	Q	394;236	ENSP00000310448:E394Q	ENSP00000310448:E394Q	E	+	1	0	SART1	65490595	0.999000	0.42202	0.780000	0.31762	0.143000	0.21401	3.217000	0.51184	1.032000	0.39892	0.305000	0.20034	GAG		0.677	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			4	15	0	0	0	1	0	4	15				
CPB1	1360	broad.mit.edu	37	3	148558549	148558549	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:148558549G>A	ENST00000491148.1	+	5	683	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CPB1_ENST00000282957.4_Missense_Mutation_p.E117K			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	117						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACACAGTTATGAGAAGTACAA	0.428																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(349-351)Gag>Aag		carboxypeptidase B1 (tissue)							165.0	165.0	165.0					3																	148558549		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148558549G>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.349G>A	3.37:g.148558549G>A	ENSP00000417222:p.Glu117Lys					CPB1_ENST00000282957.4_Missense_Mutation_p.E117K	p.E117K			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		5	683	+			117					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.349G>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024291	0.35701	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.29397	1.57;1.57;2.39	5.29	4.37	0.52481	.	0.367687	0.30177	N	0.010234	T	0.31670	0.0804	M	0.73217	2.22	0.26784	N	0.969536	B	0.09022	0.002	B	0.06405	0.002	T	0.19582	-1.0301	10	0.33141	T	0.24	.	10.1619	0.42858	0.105:0.0:0.895:0.0	.	117	P15086	CBPB1_HUMAN	K	117	ENSP00000417222:E117K;ENSP00000282957:E117K;ENSP00000419427:E117K	ENSP00000282957:E117K	E	+	1	0	CPB1	150041239	0.677000	0.27577	0.792000	0.32020	0.932000	0.56968	3.163000	0.50763	1.100000	0.41517	0.655000	0.94253	GAG		0.428	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		5	135	0	0	0	1	0	5	135				
CASP8	841	broad.mit.edu	37	2	202149679	202149679	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202149679C>G	ENST00000432109.2	+	9	1132	c.943C>G	c.(943-945)Ctc>Gtc	p.L315V	CASP8_ENST00000323492.7_Missense_Mutation_p.L300V|CASP8_ENST00000358485.4_Missense_Mutation_p.L374V|CASP8_ENST00000264275.5_Missense_Mutation_p.L332V|CASP8_ENST00000264274.9_Missense_Mutation_p.L231V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	315					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTGTATCCTCTCCCATGG	0.488										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1120-1122)Ctc>Gtc		caspase 8, apoptosis-related cysteine peptidase							181.0	152.0	162.0					2																	202149679		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149679C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.943C>G	2.37:g.202149679C>G	ENSP00000412523:p.Leu315Val	HNSCC(4;0.00038)				CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.L231V|CASP8_ENST00000264275.5_Missense_Mutation_p.L332V|CASP8_ENST00000323492.7_Missense_Mutation_p.L300V|CASP8_ENST00000432109.2_Missense_Mutation_p.L315V	p.L374V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1316	+			315					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1120C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397377	0.83120	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.68	5.68	0.88126	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	D	0.94208	0.8141	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.994;0.987;0.995;0.996;0.999	D	0.94470	0.7684	10	0.46703	T	0.11	.	13.0391	0.58889	0.0:0.9264:0.0:0.0736	.	231;374;315;300;332	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	V	300;231;315;332;374;300;94	ENSP00000376091:L300V;ENSP00000264274:L231V;ENSP00000412523:L315V;ENSP00000264275:L332V;ENSP00000351273:L374V;ENSP00000325722:L300V;ENSP00000394434:L94V	ENSP00000264274:L231V	L	+	1	0	CASP8	201857924	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.950000	0.63603	2.687000	0.91594	0.561000	0.74099	CTC		0.488	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		20	153	0	0	0	1	0	20	153				
PABPC1L	80336	broad.mit.edu	37	20	43559286	43559286	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:43559286C>T	ENST00000217073.2	+	8	1158	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000255136.3_Silent_p.L386L|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000217074.4_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	386					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCAGCGCCTCTCCACCATGC	0.647																																						ENST00000255136.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1156-1158)ctC>ctT		poly(A) binding protein, cytoplasmic 1-like							193.0	182.0	186.0					20																	43559286		1568	3582	5150	SO:0001819	synonymous_variant	80336						nucleotide binding|RNA binding	g.chr20:43559286C>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1158C>T	20.37:g.43559286C>T						PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217073.2_Silent_p.L386L|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000490798.1_3'UTR	p.L386L	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			8	1240	+			386					Q4VY17	Silent	SNP	ENST00000217073.2	37	c.1158C>T	CCDS42878.1																																																																																				0.647	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			43	291	0	0	0	1	0	43	291				
UCKL1	54963	broad.mit.edu	37	20	62575962	62575962	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:62575962G>T	ENST00000354216.6	-	6	822	c.780C>A	c.(778-780)gtC>gtA	p.V260V	UCKL1_ENST00000369908.5_Silent_p.V245V|UCKL1_ENST00000492660.1_5'Flank|UCKL1_ENST00000369892.3_Silent_p.V260V|UCKL1_ENST00000358711.3_Silent_p.V260V|MIR647_ENST00000384823.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	260					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGAGGGCTTGACAAACTTGT	0.632																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(733-735)gtC>gtA		uridine-cytidine kinase 1-like 1							230.0	130.0	164.0					20																	62575962		2197	4295	6492	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62575962G>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.780C>A	20.37:g.62575962G>T						UCKL1_ENST00000369892.3_Silent_p.V260V|UCKL1_ENST00000358711.3_Silent_p.V260V|UCKL1_ENST00000354216.6_Silent_p.V260V	p.V245V	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			6	1034	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		260					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.735C>A	CCDS13547.1																																																																																				0.632	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		5	31	1	0	0.0215528	1	0.0216021	5	31				
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GATGGGACAGGTGAGTTCCCT	0.483																																						ENST00000526016.1																			0																																																			440041							g.chr11:55065705G>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065705G>A								NR_038174.2						0	3	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.483	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			5	134	0	0	0	1	0	5	134				
GABRA1	2554	broad.mit.edu	37	5	161300263	161300263	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:161300263G>A	ENST00000428797.2	+	6	751	c.396G>A	c.(394-396)aaG>aaA	p.K132K	GABRA1_ENST00000444819.1_Silent_p.K132K|GABRA1_ENST00000437025.2_Silent_p.K132K|GABRA1_ENST00000023897.6_Silent_p.K132K|GABRA1_ENST00000393943.4_Silent_p.K132K|GABRA1_ENST00000420560.1_Silent_p.K132K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	132				Missing (in Ref. 4; CAA31925). {ECO:0000305}.	gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACAATGGAAAGAAGTCAGTGG	0.463																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(394-396)aaG>aaA		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						82.0	74.0	77.0					5																	161300263		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161300263G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.396G>A	5.37:g.161300263G>A						GABRA1_ENST00000437025.2_Silent_p.K132K|GABRA1_ENST00000023897.6_Silent_p.K132K|GABRA1_ENST00000444819.1_Silent_p.K132K|GABRA1_ENST00000420560.1_Silent_p.K132K|GABRA1_ENST00000393943.4_Silent_p.K132K	p.K132K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	6	751	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	132	Missing (in Ref. 4; CAA31925).				D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.396G>A	CCDS4357.1																																																																																				0.463	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		8	72	0	0	0	1	0	8	72				
CHMP4C	92421	broad.mit.edu	37	8	82667666	82667666	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:82667666G>A	ENST00000297265.4	+	3	623	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	144	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TATCGCCCAAGAAATCTCAGA	0.378																																						ENST00000297265.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						c.(430-432)Gaa>Aaa		charged multivesicular body protein 4C							144.0	124.0	131.0					8																	82667666		2203	4300	6503	SO:0001583	missense	92421				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr8:82667666G>A	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.430G>A	8.37:g.82667666G>A	ENSP00000297265:p.Glu144Lys						p.E144K	NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN			3	623	+			144			Intramolecular interaction with C- terminus (By similarity).		B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	c.430G>A	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908273	0.92107	.	.	ENSG00000164695	ENST00000297265	T	0.77098	-1.07	5.63	4.75	0.60458	.	0.089369	0.85682	D	0.000000	D	0.90611	0.7056	H	0.94385	3.53	0.80722	D	1	D	0.57257	0.979	D	0.63192	0.912	D	0.93357	0.6723	10	0.87932	D	0	-20.3046	16.4628	0.84069	0.0:0.1315:0.8685:0.0	.	144	Q96CF2	CHM4C_HUMAN	K	144	ENSP00000297265:E144K	ENSP00000297265:E144K	E	+	1	0	CHMP4C	82830221	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.864000	0.99589	1.338000	0.45544	0.591000	0.81541	GAA		0.378	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		20	97	0	0	0	1	0	20	97				
ADAMTS13	11093	broad.mit.edu	37	9	136323123	136323123	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:136323123C>T	ENST00000371929.3	+	28	4428	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F	CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000355699.2_Silent_p.F1272F|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000356589.2_Silent_p.F1241F|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000371910.1_Silent_p.F124F|CACFD1_ENST00000540581.1_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1328	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCGGCTCTTCATTAATGTGG	0.612																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(3982-3984)ttC>ttT		ADAM metallopeptidase with thrombospondin type 1 motif, 13							55.0	55.0	55.0					9																	136323123		2203	4300	6503	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136323123C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3984C>T	9.37:g.136323123C>T						ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.F1241F|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.F1272F|ADAMTS13_ENST00000371910.1_Silent_p.F124F	p.F1328F	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	28	4428	+			1328			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.3984C>T	CCDS6970.1																																																																																				0.612	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		4	79	0	0	0	1	0	4	79				
TRAPPC4	51399	broad.mit.edu	37	11	118895758	118895758	+	IGR	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:118895758G>A	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000538950.1_Silent_p.F311F|SLC37A4_ENST00000330775.7_Silent_p.F405F|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Silent_p.F406F|TRAPPC4_ENST00000533058.1_Silent_p.*258*|SLC37A4_ENST00000545985.1_Silent_p.F384F	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAATGGTGCTGAAGGGCAGCC	0.567																																						ENST00000545985.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(1150-1152)ttC>ttT		solute carrier family 37 (glucose-6-phosphate transporter), member 4							58.0	60.0	59.0					11																	118895758		1992	4177	6169	SO:0001628	intergenic_variant	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118895758G>A	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118895758G>A						TRAPPC4_ENST00000533058.1_Silent_p.*258*|SLC37A4_ENST00000357590.5_Silent_p.F406F|SLC37A4_ENST00000330775.7_Silent_p.F405F|SLC37A4_ENST00000538950.1_Silent_p.F311F|SLC37A4_ENST00000525102.1_5'UTR	p.F384F	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	11	1908	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	384					A8K3A5|B4DME1	Silent	SNP	ENST00000533632.1	37	c.1152C>T	CCDS8407.1																																																																																				0.567	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		10	97	0	0	0	1	0	10	97				
MYOM2	9172	broad.mit.edu	37	8	2020512	2020512	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:2020512C>T	ENST00000262113.4	+	9	1022	c.881C>T	c.(880-882)aCg>aTg	p.T294M	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	294	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.T294M(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGGCGAGACGGTCACTCTC	0.607																																						ENST00000262113.4																			1	Substitution - Missense(1)	p.T294M(1)	central_nervous_system(1)	autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(880-882)aCg>aTg		myomesin 2							83.0	68.0	73.0					8																	2020512		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2020512C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.881C>T	8.37:g.2020512C>T	ENSP00000262113:p.Thr294Met					MYOM2_ENST00000523438.1_Intron	p.T294M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	9	1022	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	294			Ig-like C2-type 2.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.881C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630698	0.87660	.	.	ENSG00000036448	ENST00000262113	T	0.47177	0.85	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.065042	0.64402	D	0.000005	T	0.69097	0.3073	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.72225	-0.4355	10	0.62326	D	0.03	.	18.5987	0.91239	0.0:1.0:0.0:0.0	.	294	P54296	MYOM2_HUMAN	M	294	ENSP00000262113:T294M	ENSP00000262113:T294M	T	+	2	0	MYOM2	2007919	1.000000	0.71417	0.859000	0.33776	0.688000	0.40055	5.558000	0.67319	2.373000	0.80994	0.655000	0.94253	ACG		0.607	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		11	56	0	0	0	1	0	11	56				
SNX16	64089	broad.mit.edu	37	8	82752106	82752106	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:82752106G>A	ENST00000345957.4	-	2	394	c.116C>T	c.(115-117)tCt>tTt	p.S39F	SNX16_ENST00000353788.4_Missense_Mutation_p.S39F|SNX16_ENST00000396330.2_Missense_Mutation_p.S39F	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	39					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GCCCTTAGAAGAATTTGAGCT	0.398																																						ENST00000396330.2																			0				large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						c.(115-117)tCt>tTt		sorting nexin 16							118.0	126.0	124.0					8																	82752106		2203	4300	6503	SO:0001583	missense	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82752106G>A	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.116C>T	8.37:g.82752106G>A	ENSP00000322652:p.Ser39Phe					SNX16_ENST00000353788.4_Missense_Mutation_p.S39F|SNX16_ENST00000345957.4_Missense_Mutation_p.S39F	p.S39F	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN			3	622	-			39					A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	37	c.116C>T	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231353	0.79688	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957;ENST00000520618;ENST00000523757;ENST00000521810;ENST00000519119;ENST00000519817;ENST00000518183	T;T;T;T;T;T;T	0.58940	1.18;1.18;1.18;1.18;0.65;1.18;0.3	5.5	5.5	0.81552	.	0.126543	0.52532	D	0.000062	T	0.74935	0.3782	M	0.70595	2.14	0.52099	D	0.999945	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.962	T	0.72297	-0.4335	10	0.33940	T	0.23	-20.8522	18.3778	0.90441	0.0:0.0:1.0:0.0	.	39;39	Q658L0;P57768	.;SNX16_HUMAN	F	39	ENSP00000322631:S39F;ENSP00000379621:S39F;ENSP00000322652:S39F;ENSP00000428699:S39F;ENSP00000430038:S39F;ENSP00000428734:S39F;ENSP00000427876:S39F	ENSP00000322652:S39F	S	-	2	0	SNX16	82914661	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.891000	0.87319	2.600000	0.87896	0.561000	0.74099	TCT		0.398	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		19	108	0	0	0	1	0	19	108				
NUMBL	9253	broad.mit.edu	37	19	41188818	41188818	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:41188818G>A	ENST00000252891.4	-	4	472	c.305C>T	c.(304-306)gCg>gTg	p.A102V	NUMBL_ENST00000540131.1_Missense_Mutation_p.A61V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A61V|NUMBL_ENST00000599594.1_5'Flank	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	102	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CTTCTTCACCGCATCTTCACA	0.617																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(304-306)gCg>gTg		numb homolog (Drosophila)-like							171.0	142.0	151.0					19																	41188818		2203	4300	6503	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41188818G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.305C>T	19.37:g.41188818G>A	ENSP00000252891:p.Ala102Val					NUMBL_ENST00000540131.1_Missense_Mutation_p.A61V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A61V	p.A102V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		4	472	-			102			PID.		Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.305C>T	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877695	0.51801	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.26957	1.7;1.7	4.28	3.22	0.36961	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.931;0.931	T	0.73658	-0.3913	10	0.87932	D	0	-11.3074	13.4334	0.61068	0.0:0.159:0.841:0.0	.	102;102	A8K033;Q9Y6R0	.;NUMBL_HUMAN	V	102;61	ENSP00000252891:A102V;ENSP00000442759:A61V	ENSP00000252891:A102V	A	-	2	0	NUMBL	45880658	1.000000	0.71417	0.082000	0.20525	0.109000	0.19521	9.023000	0.93683	1.129000	0.42072	0.460000	0.39030	GCG		0.617	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		4	137	0	0	0	1	0	4	137				
CCDC184	387856	broad.mit.edu	37	12	48578122	48578122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:48578122C>T	ENST00000316554.3	+	1	757	c.217C>T	c.(217-219)Cag>Tag	p.Q73*		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		73						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTCGCACATCCAGGTGCTCTC	0.647																																						ENST00000316554.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						c.(217-219)Cag>Tag		chromosome 12 open reading frame 68							46.0	46.0	46.0					12																	48578122		2203	4300	6503	SO:0001587	stop_gained	387856					cytoplasm		g.chr12:48578122C>T																												ENST00000316554.3:c.217C>T	12.37:g.48578122C>T	ENSP00000320849:p.Gln73*						p.Q73*	NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN			1	757	+			73					Q96MK5|Q96N39	Nonsense_Mutation	SNP	ENST00000316554.3	37	c.217C>T	CCDS31785.1	.	.	.	.	.	.	.	.	.	.	C	39	7.460523	0.98299	.	.	ENSG00000177875	ENST00000316554	.	.	.	5.24	5.24	0.73138	.	0.000000	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.5951	14.1772	0.65549	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000320849:Q73X	Q	+	1	0	C12orf68	46864389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.490000	0.53245	2.718000	0.92993	0.650000	0.86243	CAG		0.647	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406514.1			14	58	0	0	0	1	0	14	58				
ABCB5	340273	broad.mit.edu	37	7	20683120	20683120	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:20683120G>T	ENST00000404938.2	+	7	1195	c.543G>T	c.(541-543)aaG>aaT	p.K181N		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	181	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGGAGATAAGATTGCTCTGT	0.393																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(541-543)aaG>aaT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							232.0	202.0	211.0					7																	20683120		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20683120G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.543G>T	7.37:g.20683120G>T	ENSP00000384881:p.Lys181Asn						p.K181N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			7	1195	+			367					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.543G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158485	0.38119	.	.	ENSG00000004846	ENST00000404938	D	0.90324	-2.65	3.85	3.85	0.44370	.	.	.	.	.	D	0.95765	0.8622	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95286	0.8390	9	0.87932	D	0	.	7.5357	0.27708	0.114:0.0:0.886:0.0	.	181	A7BKA4	.	N	181	ENSP00000384881:K181N	ENSP00000384881:K181N	K	+	3	2	ABCB5	20649645	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	1.830000	0.39131	2.440000	0.82611	0.563000	0.77884	AAG		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		20	103	1	0	2.37509e-13	1	2.4947e-13	20	103				
STRC	161497	broad.mit.edu	37	15	43893683	43893683	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:43893683G>C	ENST00000450892.2	-	24	4689	c.4612C>G	c.(4612-4614)Cta>Gta	p.L1538V	STRC_ENST00000541030.1_Missense_Mutation_p.L765V|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1538					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CGATCTCCTAGACCTATTAAG	0.537																																						ENST00000450892.2																			0				skin(4)	4						c.(4612-4614)Cta>Gta		stereocilin							88.0	80.0	83.0					15																	43893683		2200	4297	6497	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43893683G>C	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4612C>G	15.37:g.43893683G>C	ENSP00000401513:p.Leu1538Val					STRC_ENST00000541030.1_Missense_Mutation_p.L765V	p.L1538V	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	24	4689	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1538						Missense_Mutation	SNP	ENST00000450892.2	37	c.4612C>G	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388044	0.61956	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	D;D	0.83075	-1.66;-1.68	4.62	1.71	0.24356	.	0.114477	0.37906	N	0.001897	T	0.78136	0.4236	L	0.27053	0.805	0.28885	N	0.894178	D;P	0.58970	0.984;0.919	P;P	0.58172	0.834;0.641	T	0.69957	-0.5004	10	0.51188	T	0.08	-6.2181	3.5734	0.07925	0.2835:0.0:0.5414:0.1751	.	765;1538	F5GXA4;Q7RTU9	.;STRC_HUMAN	V	1538;1538;765	ENSP00000401513:L1538V;ENSP00000440413:L765V	ENSP00000299992:L1538V	L	-	1	2	STRC	41680975	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	0.838000	0.27572	0.295000	0.22570	0.556000	0.70494	CTA		0.537	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		12	81	0	0	0	1	0	12	81				
PLIN5	440503	broad.mit.edu	37	19	4529176	4529176	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:4529176C>T	ENST00000381848.3	-	5	509	c.429G>A	c.(427-429)ctG>ctA	p.L143L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	143	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGAGCGCTTCAGCTCCACGC	0.627																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(427-429)ctG>ctA		perilipin 5							69.0	78.0	75.0					19																	4529176		2083	4195	6278	SO:0001819	synonymous_variant	440503					lipid particle		g.chr19:4529176C>T	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.429G>A	19.37:g.4529176C>T						CTB-50L17.14_ENST00000586020.1_3'UTR	p.L143L	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			5	509	-			143					A2RRC1|Q6ZS68	Silent	SNP	ENST00000381848.3	37	c.429G>A	CCDS42473.1																																																																																				0.627	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		30	202	0	0	0	1	0	30	202				
ASXL1	171023	broad.mit.edu	37	20	31021384	31021384	+	Silent	SNP	G	G	C	rs370914837		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:31021384G>C	ENST00000375687.4	+	12	1807	c.1383G>C	c.(1381-1383)ctG>ctC	p.L461L	ASXL1_ENST00000306058.5_Silent_p.L456L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	461	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGCAGGGCTGAGCAGTCCCC	0.582			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1381-1383)ctG>ctC		additional sex combs like 1 (Drosophila)							102.0	101.0	102.0					20																	31021384		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021384G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1383G>C	20.37:g.31021384G>C						ASXL1_ENST00000306058.5_Silent_p.L456L	p.L461L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	1807	+			461					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1383G>C	CCDS13201.1																																																																																				0.582	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		31	182	0	0	0	1	0	31	182				
H2AFJ	55766	broad.mit.edu	37	12	14927629	14927629	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:14927629G>C	ENST00000544848.1	+	1	360	c.225G>C	c.(223-225)aaG>aaC	p.K75N		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	75						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						GTGACAACAAGAAGACCAGGA	0.647																																						ENST00000544848.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						c.(223-225)aaG>aaC		H2A histone family, member J							65.0	69.0	68.0					12																	14927629		2203	4300	6503	SO:0001583	missense	55766				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:14927629G>C	AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"""Histones / Replication-independent"""	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.225G>C	12.37:g.14927629G>C	ENSP00000438553:p.Lys75Asn						p.K75N	NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN			1	360	+			75					Q9NV63	Missense_Mutation	SNP	ENST00000544848.1	37	c.225G>C	CCDS31752.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550527	0.45383	.	.	ENSG00000246705	ENST00000544848;ENST00000228929	T;T	0.75050	-0.9;-0.9	4.78	3.89	0.44902	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	D	0.83385	0.5243	M	0.82056	2.57	0.49213	D	0.999767	D	0.58970	0.984	P	0.61132	0.884	D	0.85491	0.1185	9	0.72032	D	0.01	.	11.2983	0.49290	0.0887:0.0:0.9113:0.0	.	75	Q9BTM1	H2AJ_HUMAN	N	75	ENSP00000438553:K75N;ENSP00000228929:K75N	ENSP00000228929:K75N	K	+	3	2	H2AFJ	14818896	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.492000	0.97957	1.623000	0.50342	0.650000	0.86243	AAG		0.647	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		7	143	0	0	0	1	0	7	143				
ENDOV	284131	broad.mit.edu	37	17	78396012	78396012	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:78396012C>T	ENST00000518137.1	+	4	398	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000518644.1_Missense_Mutation_p.L41F|ENDOV_ENST00000520367.1_Missense_Mutation_p.L79F|ENDOV_ENST00000520284.1_Intron|ENDOV_ENST00000522751.1_5'UTR|MIR4730_ENST00000584535.1_RNA|ENDOV_ENST00000518907.1_Intron|ENDOV_ENST00000517795.1_Intron|ENDOV_ENST00000323854.5_Missense_Mutation_p.L79F|ENDOV_ENST00000517295.2_Missense_Mutation_p.L41F	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	124					DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						ATAGGTCCTTCTTGTGGATGG	0.627								Direct reversal of damage																														ENST00000518137.1																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(370-372)Ctt>Ttt	Direct reversal of damage	endonuclease V							53.0	60.0	58.0					17																	78396012		2015	4193	6208	SO:0001583	missense	284131				DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	g.chr17:78396012C>T		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.370C>T	17.37:g.78396012C>T	ENSP00000429190:p.Leu124Phe					ENDOV_ENST00000517295.2_Missense_Mutation_p.L41F|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.L79F|ENDOV_ENST00000520284.1_Intron|ENDOV_ENST00000520367.1_Missense_Mutation_p.L79F|ENDOV_ENST00000518644.1_Missense_Mutation_p.L41F|ENDOV_ENST00000517795.1_Intron|ENDOV_ENST00000518907.1_Intron	p.L124F	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN			4	398	+			124					I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	c.370C>T	CCDS54172.1	.	.	.	.	.	.	.	.	.	.	C	9.513	1.106223	0.20632	.	.	ENSG00000173818	ENST00000518137;ENST00000520367;ENST00000323854;ENST00000523228;ENST00000517295	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	4.42	0.102	0.14522	.	0.314276	0.30840	N	0.008773	T	0.14442	0.0349	N	0.21448	0.665	0.34403	D	0.695504	B;B;B	0.23540	0.087;0.018;0.033	B;B;B	0.30782	0.12;0.05;0.044	T	0.29792	-1.0000	10	0.14252	T	0.57	-1.0758	8.1587	0.31185	0.0:0.3894:0.0:0.6106	.	124;79;79	Q8N8Q3;Q8N8Q3-2;Q8N8Q3-3	ENDOV_HUMAN;.;.	F	124;79;79;41;99	ENSP00000429190:L124F;ENSP00000431036:L79F;ENSP00000317810:L79F;ENSP00000429603:L41F	ENSP00000317810:L79F	L	+	1	0	ENDOV	76010607	0.593000	0.26840	0.115000	0.21578	0.727000	0.41649	0.949000	0.29109	-0.103000	0.12175	0.591000	0.81541	CTT		0.627	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379487.1	NM_173627		7	30	0	0	0	1	0	7	30				
XKR6	286046	broad.mit.edu	37	8	10755636	10755636	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:10755636G>C	ENST00000416569.2	-	3	1778	c.1752C>G	c.(1750-1752)ctC>ctG	p.L584L	XKR6_ENST00000304437.2_Silent_p.L305L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	584						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CAATCTTAATGAGGGGCCCTT	0.522																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1750-1752)ctC>ctG		XK, Kell blood group complex subunit-related family, member 6							62.0	62.0	62.0					8																	10755636		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10755636G>C	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1752C>G	8.37:g.10755636G>C						XKR6_ENST00000304437.2_Silent_p.L305L	p.L584L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1778	-			584					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1752C>G	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	G	2.376	-0.343298	0.05243	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.73	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2959	12.5963	0.56472	0.0:0.3338:0.6662:0.0	.	.	.	.	X	361	.	.	S	-	2	0	XKR6	10793046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.241000	0.43097	1.169000	0.42739	0.555000	0.69702	TCA		0.522	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		11	71	0	0	0	1	0	11	71				
TTC3	7267	broad.mit.edu	37	21	38529114	38529114	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:38529114G>A	ENST00000399017.2	+	28	5645	c.2898G>A	c.(2896-2898)ttG>ttA	p.L966L	TTC3_ENST00000355666.1_Silent_p.L966L|TTC3_ENST00000354749.2_Silent_p.L966L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	966					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGCATCATTGAAGGAAGCCC	0.373																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(2896-2898)ttG>ttA		tetratricopeptide repeat domain 3							99.0	95.0	97.0					21																	38529114		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38529114G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2898G>A	21.37:g.38529114G>A						TTC3_ENST00000355666.1_Silent_p.L966L|TTC3_ENST00000354749.2_Silent_p.L966L|TTC3_ENST00000479930.1_3'UTR	p.L966L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			28	5645	+		Myeloproliferative disorder(46;0.0412)	966					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.2898G>A	CCDS13651.1																																																																																				0.373	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			17	115	0	0	0	1	0	17	115				
EIF4ENIF1	56478	broad.mit.edu	37	22	31859948	31859948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:31859948G>A	ENST00000397525.1	-	5	527	c.304C>T	c.(304-306)Cga>Tga	p.R102*	EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	102						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACACGCTCTCGTGGATCTGGA	0.502																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(304-306)Cga>Tga		eukaryotic translation initiation factor 4E nuclear import factor 1							56.0	57.0	56.0					22																	31859948		2203	4300	6503	SO:0001587	stop_gained	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859948G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.304C>T	22.37:g.31859948G>A	ENSP00000380659:p.Arg102*					EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA	p.R102*	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			5	527	-			102					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Nonsense_Mutation	SNP	ENST00000397525.1	37	c.304C>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314938	0.81358	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.56	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2781	11.1724	0.48579	0.0:0.0:0.6601:0.3399	.	.	.	.	X	102	.	ENSP00000328103:R102X	R	-	1	2	EIF4ENIF1	30189948	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.528000	0.53524	2.792000	0.96026	0.557000	0.71058	CGA		0.502	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		4	88	0	0	0	1	0	4	88				
MYO5A	4644	broad.mit.edu	37	15	52725429	52725429	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:52725429C>T	ENST00000399231.3	-	2	324	c.81G>A	c.(79-81)ctG>ctA	p.L27L	MYO5A_ENST00000553916.1_Silent_p.L27L|MYO5A_ENST00000356338.6_Silent_p.L27L|MYO5A_ENST00000358212.6_Silent_p.L27L|MYO5A_ENST00000399233.2_Silent_p.L27L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	27					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AATCTTTGAGCAGCTCTGCTG	0.393																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(79-81)ctG>ctA		myosin VA (heavy chain 12, myoxin)							95.0	89.0	91.0					15																	52725429		1826	4080	5906	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52725429C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.81G>A	15.37:g.52725429C>T						MYO5A_ENST00000553916.1_Silent_p.L27L|MYO5A_ENST00000356338.6_Silent_p.L27L|MYO5A_ENST00000358212.6_Silent_p.L27L|MYO5A_ENST00000399233.2_Silent_p.L27L	p.L27L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	2	324	-			27			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.81G>A	CCDS42037.1																																																																																				0.393	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		9	69	0	0	0	1	0	9	69				
SMARCA4	6597	broad.mit.edu	37	19	11100024	11100024	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:11100024G>A	ENST00000429416.3	+	8	1431	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	SMARCA4_ENST00000358026.2_Missense_Mutation_p.E384K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E384K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E384K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	384					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAATTCAGGAACTTGAAAA	0.607			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1150-1152)Gaa>Aaa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							88.0	90.0	90.0					19																	11100024		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11100024G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1150G>A	19.37:g.11100024G>A	ENSP00000395654:p.Glu384Lys					SMARCA4_ENST00000429416.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E384K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E384K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E384K	p.E384K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			7	1434	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	384					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1150G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044928	0.93685	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.57;-2.58;-2.59	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	M	0.83223	2.63	0.58432	D	0.999997	P;P;P;P;D;P;P	0.71674	0.945;0.945;0.945;0.892;0.998;0.945;0.945	P;P;P;P;D;P;P	0.81914	0.459;0.459;0.459;0.459;0.995;0.459;0.459	D	0.95088	0.8219	10	0.66056	D	0.02	-20.2601	15.4489	0.75257	0.0:0.0:1.0:0.0	.	384;384;384;384;384;384;384	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	384	ENSP00000395654:E384K;ENSP00000350720:E384K;ENSP00000343896:E384K;ENSP00000445036:E384K;ENSP00000392837:E384K;ENSP00000397783:E384K;ENSP00000414727:E384K	ENSP00000343896:E384K	E	+	1	0	SMARCA4	10961024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.188000	0.69820	0.462000	0.41574	GAA		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		18	150	0	0	0	1	0	18	150				
URGCP	55665	broad.mit.edu	37	7	43918731	43918731	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43918731G>A	ENST00000453200.1	-	6	824	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	URGCP_ENST00000402306.3_Missense_Mutation_p.P102S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.P68S|URGCP_ENST00000443736.1_Missense_Mutation_p.P68S|URGCP_ENST00000223341.7_Missense_Mutation_p.P68S|URGCP_ENST00000336086.6_Missense_Mutation_p.P68S|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	111					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGTCTTTGGGAACCTGAGGG	0.547																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(202-204)Ccc>Tcc		upregulator of cell proliferation							56.0	58.0	58.0					7																	43918731		1887	4116	6003	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918731G>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.331C>T	7.37:g.43918731G>A	ENSP00000396918:p.Pro111Ser					RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.P68S|URGCP_ENST00000453200.1_Missense_Mutation_p.P111S|URGCP_ENST00000443736.1_Missense_Mutation_p.P68S|URGCP_ENST00000223341.7_Missense_Mutation_p.P68S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.P102S	p.P68S			Q8TCY9	URGCP_HUMAN			4	2438	-			111					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.202C>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254133	0.59212	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198;ENST00000455877	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.6	5.6	0.85130	.	0.588464	0.18125	N	0.150939	T	0.48370	0.1496	L	0.58810	1.83	0.36331	D	0.858883	D;D	0.64830	0.994;0.994	P;P	0.59424	0.857;0.857	T	0.43798	-0.9369	10	0.13108	T	0.6	-31.9942	12.7837	0.57491	0.0:0.1647:0.8353:0.0	.	102;111	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	S	68;68;102;68;111;68;68;68	ENSP00000223341:P68S;ENSP00000336872:P68S;ENSP00000384955:P102S;ENSP00000392136:P68S;ENSP00000396918:P111S;ENSP00000402803:P68S;ENSP00000389990:P68S	ENSP00000223341:P68S	P	-	1	0	URGCP	43885256	0.986000	0.35501	0.978000	0.43139	0.999000	0.98932	2.094000	0.41719	2.644000	0.89710	0.655000	0.94253	CCC		0.547	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		8	105	0	0	0	1	0	8	105				
TNPO2	30000	broad.mit.edu	37	19	12817099	12817099	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:12817099A>G	ENST00000592287.1	-	14	1687	c.1579T>C	c.(1579-1581)Ttt>Ctt	p.F527L	TNPO2_ENST00000425528.1_Missense_Mutation_p.F527L|TNPO2_ENST00000356861.5_Missense_Mutation_p.F527L|TNPO2_ENST00000441499.1_Missense_Mutation_p.F527L|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000588216.1_Missense_Mutation_p.F527L|TNPO2_ENST00000450764.2_Missense_Mutation_p.F527L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	527					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATTTCCCAAAGGCAAAGACA	0.592																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1579-1581)Ttt>Ctt		transportin 2							78.0	86.0	84.0					19																	12817099		2107	4237	6344	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817099A>G	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1579T>C	19.37:g.12817099A>G	ENSP00000468434:p.Phe527Leu					TNPO2_ENST00000441499.1_Missense_Mutation_p.F527L|TNPO2_ENST00000450764.2_Missense_Mutation_p.F527L|TNPO2_ENST00000592287.1_Missense_Mutation_p.F527L|TNPO2_ENST00000588216.1_Missense_Mutation_p.F527L|TNPO2_ENST00000356861.5_Missense_Mutation_p.F527L	p.F527L			O14787	TNPO2_HUMAN			15	1936	-			527					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1579T>C	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210131	0.79240	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	L	0.54908	1.71	0.80722	D	1	P;B	0.41978	0.767;0.079	B;B	0.32533	0.147;0.034	T	0.53920	-0.8370	10	0.62326	D	0.03	-6.3622	15.1328	0.72539	1.0:0.0:0.0:0.0	.	691;527	Q4LE60;O14787	.;TNPO2_HUMAN	L	691;527;527;527;527;527;527	ENSP00000407182:F527L;ENSP00000389648:F527L;ENSP00000397379:F527L;ENSP00000349321:F527L	ENSP00000349321:F527L	F	-	1	0	TNPO2	12678099	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	8.930000	0.92872	2.224000	0.72417	0.533000	0.62120	TTT		0.592	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		10	83	0	0	0	1	0	10	83				
ATP2B3	492	broad.mit.edu	37	X	152818725	152818725	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:152818725G>A	ENST00000349466.2	+	12	2382	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E672K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E686K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E686K|ATP2B3_ENST00000370186.1_Missense_Mutation_p.E672K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E672K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	686					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGCGGCCCGAGGTAGCCAC	0.627																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2014-2016)Gag>Aag		ATPase, Ca++ transporting, plasma membrane 3							84.0	48.0	60.0					X																	152818725		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152818725G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2056G>A	X.37:g.152818725G>A	ENSP00000343886:p.Glu686Lys					ATP2B3_ENST00000393842.1_Missense_Mutation_p.E672K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E672K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E686K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E686K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E686K	p.E672K			Q16720	AT2B3_HUMAN			11	2340	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		686					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2014G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075679	0.94000	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2;-4.2	5.71	5.71	0.89125	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98686	0.9559	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.99741	1.1015	10	0.87932	D	0	-43.6593	17.4237	0.87521	0.0:0.0:1.0:0.0	.	686;686	Q16720;Q16720-2	AT2B3_HUMAN;.	K	672;686;672;686;686;672	ENSP00000359205:E672K;ENSP00000343886:E686K;ENSP00000377425:E672K;ENSP00000352062:E686K;ENSP00000263519:E686K;ENSP00000359200:E672K	ENSP00000263519:E686K	E	+	1	0	ATP2B3	152471919	1.000000	0.71417	0.991000	0.47740	0.627000	0.37826	9.869000	0.99810	2.384000	0.81235	0.600000	0.82982	GAG		0.627	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		11	76	0	0	0	1	0	11	76				
CTAGE5	4253	broad.mit.edu	37	14	39771434	39771434	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:39771434G>A	ENST00000280083.3	+	10	1211	c.897G>A	c.(895-897)tcG>tcA	p.S299S	RP11-407N17.3_ENST00000603904.1_Silent_p.S270S|CTAGE5_ENST00000341749.3_Silent_p.S287S|CTAGE5_ENST00000396165.4_Silent_p.S270S|CTAGE5_ENST00000348007.3_Silent_p.S299S|CTAGE5_ENST00000556148.1_Silent_p.S224S|CTAGE5_ENST00000553352.1_Silent_p.S270S|RP11-407N17.3_ENST00000553728.1_Silent_p.S834S|CTAGE5_ENST00000396158.2_Silent_p.S304S|CTAGE5_ENST00000341502.5_Silent_p.S299S|CTAGE5_ENST00000557038.1_Silent_p.S219S			O15320	CTGE5_HUMAN	CTAGE family, member 5	299					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ACAGTGAATCGGAAAATGGTG	0.398																																						ENST00000553728.1																			0											c.(2500-2502)tcG>tcA									176.0	169.0	171.0					14																	39771434		2203	4300	6503	SO:0001819	synonymous_variant	4253							g.chr14:39771434G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.897G>A	14.37:g.39771434G>A						CTAGE5_ENST00000396165.4_Silent_p.S270S|CTAGE5_ENST00000396158.2_Silent_p.S304S|CTAGE5_ENST00000557038.1_Silent_p.S219S|CTAGE5_ENST00000341749.3_Silent_p.S287S|CTAGE5_ENST00000280083.3_Silent_p.S299S|CTAGE5_ENST00000553352.1_Silent_p.S270S|CTAGE5_ENST00000556148.1_Silent_p.S224S|CTAGE5_ENST00000348007.3_Silent_p.S299S|RP11-407N17.3_ENST00000603904.1_Silent_p.S270S|CTAGE5_ENST00000341502.5_Silent_p.S299S	p.S834S							14	2715	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.2502G>A	CCDS9674.1																																																																																				0.398	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		4	195	0	0	0	1	0	4	195				
ZNF436	80818	broad.mit.edu	37	1	23695932	23695932	+	5'UTR	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:23695932C>A	ENST00000314011.4	-	0	3				C1orf213_ENST00000458053.1_Intron|Y_RNA_ENST00000364535.1_RNA|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000437367.2_Missense_Mutation_p.Q48K|C1orf213_ENST00000454117.1_Missense_Mutation_p.Q48K|C1orf213_ENST00000335648.3_Missense_Mutation_p.Q48K|C1orf213_ENST00000518821.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCCAGAGCCGCAGCGTTCTCT	0.572																																						ENST00000335648.3																			0				kidney(1)	1						c.(142-144)Cag>Aag									47.0	54.0	52.0					1																	23695932		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148898							g.chr1:23695932C>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.-134G>T	1.37:g.23695932C>A						C1orf213_ENST00000437367.2_Missense_Mutation_p.Q48K|C1orf213_ENST00000458053.1_Intron|ZNF436_ENST00000314011.4_5'UTR|C1orf213_ENST00000454117.1_Missense_Mutation_p.Q48K|C1orf213_ENST00000518821.1_Intron	p.Q48K						UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	204	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.142C>A	CCDS233.1	.	.	.	.	.	.	.	.	.	.	C	7.307	0.614298	0.14129	.	.	ENSG00000249087	ENST00000454117;ENST00000335648;ENST00000437367	.	.	.	3.76	2.82	0.32997	.	.	.	.	.	T	0.34193	0.0889	.	.	.	0.21822	N	0.999528	P;P	0.46142	0.873;0.873	B;B	0.44044	0.439;0.237	T	0.15838	-1.0423	7	0.87932	D	0	.	8.5953	0.33712	0.2285:0.7715:0.0:0.0	.	48;48	Q8NC38;E5RFN3	CA213_HUMAN;.	K	48	.	ENSP00000441287:Q48K	Q	+	1	0	C1orf213	23568519	0.983000	0.35010	0.149000	0.22428	0.012000	0.07955	2.159000	0.42339	1.115000	0.41800	0.585000	0.79938	CAG		0.572	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		9	73	1	0	0.00448238	1	0.00453414	9	73				
C1S	716	broad.mit.edu	37	12	7173187	7173187	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:7173187G>A	ENST00000406697.1	+	10	1412	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	C1S_ENST00000402681.3_Missense_Mutation_p.E95K|C1S_ENST00000328916.3_Missense_Mutation_p.E262K|C1S_ENST00000360817.5_Missense_Mutation_p.E262K			P09871	C1S_HUMAN	complement component 1, s subcomponent	262	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTAAATATTGAAACCAAGAG	0.413																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(784-786)Gaa>Aaa		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						146.0	136.0	139.0					12																	7173187		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7173187G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.784G>A	12.37:g.7173187G>A	ENSP00000385035:p.Glu262Lys					C1S_ENST00000328916.3_Missense_Mutation_p.E262K|C1S_ENST00000402681.3_Missense_Mutation_p.E95K|C1S_ENST00000360817.5_Missense_Mutation_p.E262K	p.E262K			P09871	C1S_HUMAN			10	1412	+			262			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.784G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	8.952	0.968405	0.18659	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.75	3.91	0.45181	CUB (5);	0.518379	0.16274	N	0.221638	T	0.15262	0.0368	L	0.31926	0.97	0.25984	N	0.982334	B	0.14438	0.01	B	0.26614	0.071	T	0.35201	-0.9798	10	0.11485	T	0.65	.	8.8805	0.35372	0.2569:0.0:0.7431:0.0	.	262	P09871	C1S_HUMAN	K	262;262;262;250;95;95	ENSP00000385035:E262K;ENSP00000328173:E262K;ENSP00000354057:E262K;ENSP00000384171:E95K;ENSP00000442298:E95K	ENSP00000328173:E262K	E	+	1	0	C1S	7043448	1.000000	0.71417	0.117000	0.21633	0.099000	0.18886	3.042000	0.49815	0.754000	0.32968	-0.291000	0.09656	GAA		0.413	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		16	92	0	0	0	1	0	16	92				
TMC2	117532	broad.mit.edu	37	20	2596827	2596827	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:2596827G>C	ENST00000358864.1	+	15	1932	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	639					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTGGGTTTGATCTTCAACC	0.438																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1915-1917)ttG>ttC		transmembrane channel-like 2							208.0	176.0	187.0					20																	2596827		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2596827G>C	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1917G>C	20.37:g.2596827G>C	ENSP00000351732:p.Leu639Phe					TMC2_ENST00000496948.1_3'UTR	p.L639F	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			15	1932	+			639					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1917G>C	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438776	0.43326	.	.	ENSG00000149488	ENST00000358864	T	0.74209	-0.82	5.45	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.89904	3.07	0.47994	D	0.99956	B	0.25105	0.118	B	0.37346	0.247	T	0.81754	-0.0788	10	0.62326	D	0.03	-5.6674	15.4586	0.75336	0.0754:0.0:0.9246:0.0	.	639	Q8TDI7	TMC2_HUMAN	F	639	ENSP00000351732:L639F	ENSP00000351732:L639F	L	+	3	2	TMC2	2544827	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.046000	0.41260	0.817000	0.34445	-0.797000	0.03246	TTG		0.438	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			7	52	0	0	0	1	0	7	52				
PWWP2B	170394	broad.mit.edu	37	10	134219115	134219115	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:134219115G>T	ENST00000305233.5	+	2	1170	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	PWWP2B_ENST00000368609.4_Missense_Mutation_p.D371Y	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	371										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCTGTGCGGACGGCCCTGC	0.692																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1111-1113)Gac>Tac		PWWP domain containing 2B							29.0	34.0	32.0					10																	134219115		2182	4253	6435	SO:0001583	missense	170394							g.chr10:134219115G>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1111G>T	10.37:g.134219115G>T	ENSP00000306324:p.Asp371Tyr					PWWP2B_ENST00000368609.4_Missense_Mutation_p.D371Y	p.D371Y	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1170	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	371					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1111G>T	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	7.525	0.657486	0.14645	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.59083	0.29;1.29	4.18	-0.505	0.11993	.	2.281760	0.03632	U	0.238085	T	0.38612	0.1047	N	0.19112	0.55	0.09310	N	1	P	0.41265	0.744	B	0.37047	0.24	T	0.28235	-1.0050	10	0.72032	D	0.01	-4.2723	2.0443	0.03557	0.2663:0.1362:0.4697:0.1279	.	371	Q6NUJ5	PWP2B_HUMAN	Y	371	ENSP00000306324:D371Y;ENSP00000357598:D371Y	ENSP00000306324:D371Y	D	+	1	0	PWWP2B	134069105	0.003000	0.15002	0.000000	0.03702	0.040000	0.13550	1.230000	0.32612	-0.309000	0.08779	0.467000	0.42956	GAC		0.692	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		16	112	1	0	1.02788e-11	1	1.07449e-11	16	112				
AGPAT3	56894	broad.mit.edu	37	21	45402220	45402220	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:45402220G>C	ENST00000398063.2	+	9	1570	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360Q|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360Q|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360Q	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	360				VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067). {ECO:0000305}.	CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGAGTAACTGAGATAGAAAA	0.453																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(1078-1080)Gag>Cag		1-acylglycerol-3-phosphate O-acyltransferase 3							140.0	150.0	147.0					21																	45402220		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45402220G>C	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1078G>C	21.37:g.45402220G>C	ENSP00000381140:p.Glu360Gln					AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360Q|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360Q|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360Q	p.E360Q	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	9	1570	+			360	VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067).				D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.1078G>C	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255791	0.59321	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.64	4.64	0.57946	.	0.107744	0.64402	D	0.000008	T	0.81856	0.4911	L	0.46614	1.455	0.80722	D	1	D;B	0.55605	0.972;0.402	D;B	0.63793	0.918;0.171	T	0.76369	-0.2984	10	0.09843	T	0.71	-24.2516	17.7067	0.88310	0.0:0.0:1.0:0.0	.	380;360	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	Q	360	ENSP00000291572:E360Q;ENSP00000381138:E360Q;ENSP00000332989:E360Q;ENSP00000381140:E360Q;ENSP00000381135:E360Q;ENSP00000443510:E360Q	ENSP00000291572:E360Q	E	+	1	0	AGPAT3	44226648	1.000000	0.71417	0.856000	0.33681	0.918000	0.54935	8.597000	0.90847	2.409000	0.81822	0.563000	0.77884	GAG		0.453	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		32	251	0	0	0	1	0	32	251				
NAT10	55226	broad.mit.edu	37	11	34139817	34139817	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:34139817G>A	ENST00000257829.3	+	7	854	c.648G>A	c.(646-648)atG>atA	p.M216I	NAT10_ENST00000531159.2_Missense_Mutation_p.M144I|NAT10_ENST00000527971.1_Missense_Mutation_p.M216I	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	216						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGCCACCATGGAGGCCCTGC	0.547																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(646-648)atG>atA		N-acetyltransferase 10 (GCN5-related)							79.0	76.0	77.0					11																	34139817		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34139817G>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.648G>A	11.37:g.34139817G>A	ENSP00000257829:p.Met216Ile					NAT10_ENST00000531159.2_Missense_Mutation_p.M144I|NAT10_ENST00000527971.1_Missense_Mutation_p.M216I	p.M216I	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			7	854	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	216					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.648G>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	0.190	-1.054552	0.01965	.	.	ENSG00000135372	ENST00000257829;ENST00000531159;ENST00000527971	T;T	0.26223	1.75;1.76	4.81	-4.88	0.03113	.	0.048937	0.85682	N	0.000000	T	0.01800	0.0057	N	0.00017	-2.84	0.22693	N	0.998843	B	0.02656	0.0	B	0.01281	0.0	T	0.43972	-0.9358	10	0.02654	T	1	-8.2559	2.2775	0.04106	0.1889:0.2287:0.0975:0.4849	.	216	Q9H0A0	NAT10_HUMAN	I	216;144;216	ENSP00000257829:M216I;ENSP00000433011:M144I	ENSP00000257829:M216I	M	+	3	0	NAT10	34096393	0.088000	0.21588	0.981000	0.43875	0.354000	0.29330	-0.695000	0.05109	-0.766000	0.04639	-1.228000	0.01579	ATG		0.547	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		8	77	0	0	0	1	0	8	77				
TLDC1	57707	broad.mit.edu	37	16	84520502	84520502	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:84520502G>A	ENST00000343629.6	-	5	875	c.693C>T	c.(691-693)gtC>gtT	p.V231V	TLDC1_ENST00000535580.1_Silent_p.V204V|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	231						lysosomal membrane (GO:0005765)											GACGCTCAGGGACCAGGGTAG	0.572																																						ENST00000343629.6																			0											c.(691-693)gtC>gtT		TBC/LysM-associated domain containing 1							47.0	45.0	46.0					16																	84520502		2200	4300	6500	SO:0001819	synonymous_variant	57707							g.chr16:84520502G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.693C>T	16.37:g.84520502G>A						TLDC1_ENST00000535580.1_Silent_p.V204V	p.V231V	NM_020947.3	NP_065998.3					5	875	-								Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	c.693C>T	CCDS32498.1																																																																																				0.572	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		11	59	0	0	0	1	0	11	59				
BIRC6	57448	broad.mit.edu	37	2	32750671	32750671	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:32750671C>T	ENST00000421745.2	+	59	12030	c.11896C>T	c.(11896-11898)Cac>Tac	p.H3966Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3966					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCAGTGTTTCACCTGTTTCA	0.423																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(11896-11898)Cac>Tac		baculoviral IAP repeat containing 6							71.0	70.0	71.0					2																	32750671		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32750671C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11896C>T	2.37:g.32750671C>T	ENSP00000393596:p.His3966Tyr						p.H3966Y	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			59	12030	+	Acute lymphoblastic leukemia(172;0.155)		3966					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11896C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449548	0.63178	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.61	5.61	0.85477	.	0.110837	0.64402	D	0.000012	T	0.59115	0.2170	N	0.24115	0.695	0.58432	D	0.999999	D	0.53885	0.963	B	0.44224	0.444	T	0.58250	-0.7669	10	0.06494	T	0.89	.	19.6295	0.95694	0.0:1.0:0.0:0.0	.	3966	Q9NR09	BIRC6_HUMAN	Y	3966	ENSP00000393596:H3966Y	ENSP00000393596:H3966Y	H	+	1	0	BIRC6	32604175	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.519000	0.67074	2.647000	0.89833	0.655000	0.94253	CAC		0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		11	44	0	0	0	1	0	11	44				
PCDH15	65217	broad.mit.edu	37	10	55721532	55721532	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:55721532C>T	ENST00000320301.6	-	22	3383	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K	PCDH15_ENST00000373965.2_Missense_Mutation_p.E1004K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1004K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E960K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E997K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E608K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E926K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E975K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E997K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1002K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E997K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	997	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGTAGGTTCTTCATTAAGA	0.343										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3010-3012)Gaa>Aaa		protocadherin-related 15							114.0	114.0	114.0					10																	55721532		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55721532C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2989G>A	10.37:g.55721532C>T	ENSP00000322604:p.Glu997Lys	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.E975K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1004K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E608K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E926K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E997K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E997K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E960K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E997K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1002K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E997K|PCDH15_ENST00000373957.3_Intron	p.E1004K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			23	3404	-		Melanoma(3;0.117)|Lung SC(717;0.238)	997			Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3010G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663305	0.88251	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.04	5.04	0.67666	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88976	0.6584	H	0.95079	3.62	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P	0.76494	0.999;0.972;0.995;0.996;0.995;0.995;0.999;0.972;0.986;0.975;0.972;0.99;0.949	D;P;D;D;D;D;D;P;D;P;P;P;P	0.87578	0.998;0.896;0.968;0.968;0.977;0.968;0.998;0.877;0.93;0.876;0.877;0.877;0.876	D	0.92397	0.5926	9	0.87932	D	0	.	17.1556	0.86791	0.0:1.0:0.0:0.0	.	975;997;997;1002;926;960;997;997;1004;1004;997;1002;997	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1004;1002;997;997;608;1004;960;997;975;997;997;1002;926	ENSP00000363076:E1004K;ENSP00000410304:E1002K;ENSP00000378826:E997K;ENSP00000386693:E608K;ENSP00000378832:E1004K;ENSP00000378820:E960K;ENSP00000354950:E997K;ENSP00000378821:E975K;ENSP00000322604:E997K;ENSP00000378818:E997K;ENSP00000412628:E926K	ENSP00000322604:E997K	E	-	1	0	PCDH15	55391538	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.480000	0.73604	2.353000	0.79882	0.467000	0.42956	GAA		0.343	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		5	74	0	0	0	1	0	5	74				
MFSD1	64747	broad.mit.edu	37	3	158519957	158519957	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:158519957G>A	ENST00000264266.8	+	1	78	c.16G>A	c.(16-18)Gag>Aag	p.E6K	RP11-379F4.9_ENST00000607044.1_RNA|MFSD1_ENST00000415822.2_Missense_Mutation_p.E55K|MFSD1_ENST00000392813.4_Missense_Mutation_p.E55K			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	6					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGAGGAGGATGAGGAAGCGCG	0.697																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(163-165)Gag>Aag		major facilitator superfamily domain containing 1							16.0	19.0	18.0					3																	158519957		2194	4285	6479	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158519957G>A	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.16G>A	3.37:g.158519957G>A	ENSP00000264266:p.Glu6Lys					MFSD1_ENST00000264266.8_Missense_Mutation_p.E6K|MFSD1_ENST00000392813.4_Missense_Mutation_p.E55K	p.E55K	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		1	304	+			6					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.163G>A		.	.	.	.	.	.	.	.	.	.	G	26.2	4.718888	0.89205	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159	T;T;T	0.23754	2.12;1.89;2.22	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);	0.318387	0.30003	N	0.010647	T	0.18800	0.0451	N	0.24115	0.695	0.37293	D	0.90837	B;B	0.26708	0.157;0.023	B;B	0.22152	0.038;0.01	T	0.10154	-1.0642	10	0.23891	T	0.37	.	16.9247	0.86173	0.0:0.0:1.0:0.0	.	55;6	C9JS94;Q9H3U5	.;MFSD1_HUMAN	K	55;55;6;6	ENSP00000403117:E55K;ENSP00000376560:E55K;ENSP00000264266:E6K	ENSP00000264266:E6K	E	+	1	0	MFSD1	160002651	1.000000	0.71417	0.905000	0.35620	0.855000	0.48748	4.227000	0.58612	2.280000	0.76307	0.563000	0.77884	GAG		0.697	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		3	32	0	0	0	1	0	3	32				
ISM2	145501	broad.mit.edu	37	14	77941989	77941989	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:77941989G>A	ENST00000342219.4	-	7	1721	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.N474N|ISM2_ENST00000393684.3_Silent_p.N467N|ISM2_ENST00000412904.1_Silent_p.N474N	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	555	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCTCCAGGGGGTTGTCGGTGC	0.632																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1399-1401)aaC>aaT		isthmin 2							98.0	91.0	93.0					14																	77941989		2203	4300	6503	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77941989G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1665C>T	14.37:g.77941989G>A						ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.N474N|ISM2_ENST00000412904.1_Silent_p.N474N|ISM2_ENST00000342219.4_Silent_p.N555N	p.N467N			Q6H9L7	ISM2_HUMAN			8	1792	-			555			AMOP.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.1401C>T	CCDS9864.1																																																																																				0.632	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		12	127	0	0	0	1	0	12	127				
HUWE1	10075	broad.mit.edu	37	X	53563110	53563110	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:53563110C>T	ENST00000342160.3	-	79	12986	c.12529G>A	c.(12529-12531)Gag>Aag	p.E4177K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4177	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E4067K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCTACCTCAGTGCTGAAG	0.458																																						ENST00000342160.3																			1	Substitution - Missense(1)	p.E4067K(1)	upper_aerodigestive_tract(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12529-12531)Gag>Aag		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							173.0	116.0	136.0					X																	53563110		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563110C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12529G>A	X.37:g.53563110C>T	ENSP00000340648:p.Glu4177Lys					HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K	p.E4177K			Q7Z6Z7	HUWE1_HUMAN			79	12986	-			4177			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12529G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439071	0.63067	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.57752	0.38;0.38	4.84	4.84	0.62591	HECT (4);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.85542	2.76	0.80722	D	1	P;P	0.49961	0.93;0.913	D;P	0.65233	0.933;0.89	T	0.79443	-0.1801	10	0.72032	D	0.01	.	16.4218	0.83760	0.0:1.0:0.0:0.0	.	4177;4161	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	4177	ENSP00000340648:E4177K;ENSP00000262854:E4177K	ENSP00000262854:E4177K	E	-	1	0	HUWE1	53579835	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.231000	0.78106	2.333000	0.79357	0.594000	0.82650	GAG		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		7	32	0	0	0	1	0	7	32				
STK17A	9263	broad.mit.edu	37	7	43635615	43635615	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43635615G>A	ENST00000319357.5	+	2	501	c.322G>A	c.(322-324)Gag>Aag	p.E108K	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AATAATTCATGAGATTGCTGT	0.348																																						ENST00000319357.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(322-324)Gag>Aag		serine/threonine kinase 17a							122.0	125.0	124.0					7																	43635615		2203	4300	6503	SO:0001583	missense	9263				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr7:43635615G>A	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.322G>A	7.37:g.43635615G>A	ENSP00000319192:p.Glu108Lys					STK17A_ENST00000462448.1_3'UTR	p.E108K	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN			2	501	+			108			Protein kinase.		A4D1V6|Q8IVC8	Missense_Mutation	SNP	ENST00000319357.5	37	c.322G>A	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213396	0.95069	.	.	ENSG00000164543	ENST00000319357	T	0.73469	-0.75	4.88	4.88	0.63580	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	0.47852	D	0.000213	D	0.88247	0.6385	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90644	0.4577	10	0.87932	D	0	.	18.0346	0.89296	0.0:0.0:1.0:0.0	.	108	Q9UEE5	ST17A_HUMAN	K	108	ENSP00000319192:E108K	ENSP00000319192:E108K	E	+	1	0	STK17A	43602140	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.178000	0.94855	2.229000	0.72834	0.591000	0.81541	GAG		0.348	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760		15	83	0	0	0	1	0	15	83				
SYNE2	23224	broad.mit.edu	37	14	64473776	64473776	+	Silent	SNP	C	C	T	rs377423642		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:64473776C>T	ENST00000344113.4	+	31	4625	c.4413C>T	c.(4411-4413)atC>atT	p.I1471I	SYNE2_ENST00000554584.1_Silent_p.I1471I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.I1471I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1471					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCATTAATCAGACTGGATA	0.353																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4411-4413)atC>atT		spectrin repeat containing, nuclear envelope 2							99.0	94.0	96.0					14																	64473776		1827	4082	5909	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64473776C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4413C>T	14.37:g.64473776C>T						SYNE2_ENST00000554584.1_Silent_p.I1471I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.I1471I	p.I1471I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	31	4643	+			1471					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.4413C>T	CCDS41963.1																																																																																				0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		20	105	0	0	0	1	0	20	105				
CEP250	11190	broad.mit.edu	37	20	34090925	34090925	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:34090925C>G	ENST00000397527.1	+	30	5448	c.4728C>G	c.(4726-4728)atC>atG	p.I1576M	CEP250_ENST00000342580.4_Missense_Mutation_p.I1520M	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1576	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAAAACTGATCAAGGAGCTGG	0.542																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4726-4728)atC>atG		centrosomal protein 250kDa							43.0	41.0	42.0					20																	34090925		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34090925C>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4728C>G	20.37:g.34090925C>G	ENSP00000380661:p.Ile1576Met					CEP250_ENST00000342580.4_Missense_Mutation_p.I1520M	p.I1576M	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5448	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1576			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.4728C>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	6.428	0.447110	0.12223	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.57752	2.75;2.71;0.38	4.21	-8.42	0.00957	.	0.000000	0.53938	D	0.000041	T	0.62865	0.2463	M	0.82056	2.57	0.09310	N	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.64067	-0.6494	10	0.49607	T	0.09	.	9.1905	0.37195	0.1743:0.2076:0.0:0.6181	.	1576	Q9BV73	CP250_HUMAN	M	1576;1520;64	ENSP00000380661:I1576M;ENSP00000341541:I1520M;ENSP00000395992:I64M	ENSP00000341541:I1520M	I	+	3	3	CEP250	33554339	0.000000	0.05858	0.021000	0.16686	0.360000	0.29518	-6.080000	0.00082	-2.238000	0.00712	-1.036000	0.02392	ATC		0.542	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		3	52	0	0	0	1	0	3	52				
OR4B1	119765	broad.mit.edu	37	11	48238785	48238785	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:48238785C>T	ENST00000309562.2	+	1	442	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L142M(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTGTCACCTTCTGGTGGCTGG	0.458																																						ENST00000309562.2																			1	Substitution - Missense(1)	p.L142M(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(424-426)Ctg>Ttg		olfactory receptor, family 4, subfamily B, member 1							95.0	93.0	94.0					11																	48238785		2201	4298	6499	SO:0001819	synonymous_variant	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238785C>T	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.424C>T	11.37:g.48238785C>T							p.L142L	NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN			1	442	+			142					Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	c.424C>T	CCDS31485.1																																																																																				0.458	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		18	113	0	0	0	1	0	18	113				
PRPF40B	25766	broad.mit.edu	37	12	50029170	50029170	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:50029170G>A	ENST00000380281.1	+	13	1187	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	PRPF40B_ENST00000548825.2_Missense_Mutation_p.E397K|PRPF40B_ENST00000261897.1_Missense_Mutation_p.E369K|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	375	FF 2.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GACCTTTGGGGAGCTGGAGGT	0.532																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1105-1107)Gag>Aag		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							123.0	128.0	127.0					12																	50029170		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50029170G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1123G>A	12.37:g.50029170G>A	ENSP00000369634:p.Glu375Lys					PRPF40B_ENST00000380281.1_Missense_Mutation_p.E375K|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E397K	p.E369K			Q6NWY9	PR40B_HUMAN			13	1656	+			375					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1105G>A		.	.	.	.	.	.	.	.	.	.	G	15.39	2.819702	0.50633	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.24151	1.87;1.87	5.0	5.0	0.66597	FF domain (1);	0.282843	0.28453	N	0.015282	T	0.17789	0.0427	N	0.16790	0.44	0.37865	D	0.929846	B;B;B	0.24882	0.069;0.041;0.113	B;B;B	0.24541	0.024;0.054;0.054	T	0.09684	-1.0663	9	.	.	.	-7.2834	17.599	0.88021	0.0:0.0:1.0:0.0	.	375;369;375	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	K	369;375	ENSP00000261897:E369K;ENSP00000369634:E375K	.	E	+	1	0	PRPF40B	48315437	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.603000	0.82811	2.775000	0.95449	0.563000	0.77884	GAG		0.532	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		22	164	0	0	0	1	0	22	164				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	78	0	0	0	1	0	4	78				
ACTB	60	broad.mit.edu	37	7	5567507	5567507	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:5567507C>T	ENST00000331789.5	-	6	1191	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	334					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TACTTGCGCTCAGGAGGAGCA	0.627																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(1000-1002)Gag>Aag		actin, beta							85.0	84.0	84.0					7																	5567507		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567507C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1000G>A	7.37:g.5567507C>T	ENSP00000349960:p.Glu334Lys					ACTB_ENST00000464611.1_5'UTR	p.E334K	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	6	1191	-		Ovarian(82;0.0606)	334					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1000G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122862	0.37436	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95412	-3.7	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000016	D	0.96411	0.8829	M	0.88704	2.975	0.58432	D	0.999996	B	0.09022	0.002	B	0.27608	0.081	D	0.94433	0.7651	10	0.87932	D	0	.	18.5519	0.91068	0.0:1.0:0.0:0.0	.	334	P60709	ACTB_HUMAN	K	334;310;306;253	ENSP00000349960:E334K	ENSP00000440549:E253K	E	-	1	0	ACTB	5534033	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	7.533000	0.81994	2.617000	0.88574	0.650000	0.86243	GAG		0.627	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		18	124	0	0	0	1	0	18	124				
URGCP	55665	broad.mit.edu	37	7	43918732	43918732	+	Silent	SNP	A	A	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43918732A>C	ENST00000453200.1	-	6	823	c.330T>G	c.(328-330)gtT>gtG	p.V110V	URGCP_ENST00000402306.3_Silent_p.V101V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.V67V|URGCP_ENST00000443736.1_Silent_p.V67V|URGCP_ENST00000223341.7_Silent_p.V67V|URGCP_ENST00000336086.6_Silent_p.V67V|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	110					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTCTTTGGGAACCTGAGGGG	0.542																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(199-201)gtT>gtG		upregulator of cell proliferation							55.0	58.0	57.0					7																	43918732		1888	4118	6006	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918732A>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.330T>G	7.37:g.43918732A>C						RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.V67V|URGCP_ENST00000453200.1_Silent_p.V110V|URGCP_ENST00000443736.1_Silent_p.V67V|URGCP_ENST00000223341.7_Silent_p.V67V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Silent_p.V101V	p.V67V			Q8TCY9	URGCP_HUMAN			4	2437	-			110					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.201T>G	CCDS47578.1																																																																																				0.542	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		9	109	0	0	0	1	0	9	109				
FAM161B	145483	broad.mit.edu	37	14	74409110	74409110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:74409110G>A	ENST00000534936.1	-	4	1339	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	FAM161B_ENST00000286544.3_Nonsense_Mutation_p.Q475*			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	412										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CAGGGCCGCTGAGGGTGGCGC	0.622																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1423-1425)Cag>Tag		family with sequence similarity 161, member B							97.0	90.0	92.0					14																	74409110		2203	4300	6503	SO:0001587	stop_gained	145483							g.chr14:74409110G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1234C>T	14.37:g.74409110G>A	ENSP00000445326:p.Gln412*					FAM161B_ENST00000534936.1_Nonsense_Mutation_p.Q412*	p.Q475*	NM_152445.2	NP_689658.2					4	1621	-								B7Z882|J3KNA2	Nonsense_Mutation	SNP	ENST00000534936.1	37	c.1423C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.006342	0.97195	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	.	.	.	5.54	5.54	0.83059	.	0.948959	0.08775	N	0.895613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4408	14.8575	0.70351	0.0:0.0:1.0:0.0	.	.	.	.	X	475;412	.	ENSP00000286544:Q475X	Q	-	1	0	FAM161B	73478863	0.596000	0.26866	0.018000	0.16275	0.006000	0.05464	4.731000	0.62022	2.884000	0.98904	0.655000	0.94253	CAG		0.622	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		21	124	0	0	0	1	0	21	124				
MIR31HG	554202	broad.mit.edu	37	9	21512171	21512171	+	RNA	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:21512171C>G	ENST00000304425.3	-	0	181				MIR31_ENST00000362307.1_RNA	NR_027054.1				MIR31 host gene (non-protein coding)																		ATGCCAGCATCTTGCCTCCTC	0.473																																						ENST00000304425.3																			0																				128.0	114.0	118.0					9																	21512171		1568	3582	5150			554202							g.chr9:21512171C>G	AK124391		9p21.3	2014-07-18			ENSG00000171889	ENSG00000171889		"""-"""	37187	non-coding RNA	RNA, long non-coding						15364902, 22289355, 24631686	Standard	NR_027054		Approved	LOC554202	uc003zpe.2		OTTHUMG00000019681		9.37:g.21512171C>G						MIR31_ENST00000362307.1_RNA		NR_027054.1						0	181	-									RNA	SNP	ENST00000304425.3	37																																																																																						0.473	MIR31HG-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000051910.1	NR_027054		16	97	0	0	0	1	0	16	97				
SSX2IP	117178	broad.mit.edu	37	1	85128181	85128181	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:85128181C>T	ENST00000342203.3	-	7	969	c.706G>A	c.(706-708)Gat>Aat	p.D236N	SSX2IP_ENST00000437941.2_Missense_Mutation_p.D209N|SSX2IP_ENST00000370612.4_Missense_Mutation_p.D236N|SSX2IP_ENST00000605755.1_Missense_Mutation_p.D209N|SSX2IP_ENST00000603677.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	236					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTTTTCCATCAGCTCTCCCG	0.358																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(625-627)Gat>Aat		synovial sarcoma, X breakpoint 2 interacting protein							92.0	97.0	95.0					1																	85128181		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85128181C>T		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.706G>A	1.37:g.85128181C>T	ENSP00000340279:p.Asp236Asn					SSX2IP_ENST00000370612.4_Missense_Mutation_p.D236N|SSX2IP_ENST00000342203.3_Missense_Mutation_p.D236N|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.D209N	p.D209N	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	6	977	-			236					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.625G>A	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485939	0.96323	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T;T	0.32272	1.46;1.46;1.46	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.72894	2.215	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.998	D;P;P	0.68039	0.955;0.904;0.904	T	0.51748	-0.8666	10	0.87932	D	0	-0.0052	19.7106	0.96095	0.0:1.0:0.0:0.0	.	232;236;209	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	N	236;209;232;236	ENSP00000340279:D236N;ENSP00000412781:D209N;ENSP00000359644:D236N	ENSP00000340279:D236N	D	-	1	0	SSX2IP	84900769	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.487000	0.81328	2.676000	0.91093	0.591000	0.81541	GAT		0.358	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		9	71	0	0	0	1	0	9	71				
TFAP2A	7020	broad.mit.edu	37	6	10410439	10410439	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:10410439G>A	ENST00000482890.1	-	3	527	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000319516.4_Missense_Mutation_p.P55S|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000379613.3_Missense_Mutation_p.P61S|TFAP2A_ENST00000379604.2_Missense_Mutation_p.P59S|TFAP2A_ENST00000379608.3_Missense_Mutation_p.P53S			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	59	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGGGTGGGGGGAAGTATGGG	0.657																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(181-183)Ccc>Tcc		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							23.0	28.0	26.0					6																	10410439		2199	4282	6481	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10410439G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.175C>T	6.37:g.10410439G>A	ENSP00000418541:p.Pro59Ser					TFAP2A_ENST00000379604.2_Missense_Mutation_p.P59S|TFAP2A_ENST00000379608.3_Missense_Mutation_p.P53S|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000319516.4_Missense_Mutation_p.P55S|TFAP2A_ENST00000482890.1_Missense_Mutation_p.P59S	p.P61S			P05549	AP2A_HUMAN			2	437	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	59			Gln/Pro-rich (transactivation domain).		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.181C>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611609	0.87258	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000465858	D;D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	4.76	4.76	0.60689	.	0.055417	0.64402	D	0.000001	D	0.95220	0.8450	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.997;0.997;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.946;0.986;0.999;0.993;0.986;0.986;0.999	D	0.94642	0.7831	10	0.40728	T	0.16	-9.6613	17.8498	0.88742	0.0:0.0:1.0:0.0	.	61;59;59;61;55;59;53	Q96SH1;C1K3N0;P05549-2;Q96SH0;Q5TAV5;P05549;Q8N1C6	.;.;.;.;.;AP2A_HUMAN;.	S	61;59;55;53;59;59;104	ENSP00000368933:P61S;ENSP00000368924:P59S;ENSP00000316516:P55S;ENSP00000368928:P53S;ENSP00000418541:P59S;ENSP00000417495:P59S;ENSP00000418391:P104S	ENSP00000316516:P55S	P	-	1	0	TFAP2A	10518425	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.396000	0.97270	2.203000	0.70933	0.650000	0.86243	CCC		0.657	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		21	85	0	0	0	1	0	21	85				
MED18	54797	broad.mit.edu	37	1	28660984	28660984	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:28660984G>A	ENST00000373842.4	+	3	339	c.130G>A	c.(130-132)Gac>Aac	p.D44N	MED18_ENST00000398997.2_Missense_Mutation_p.D44N|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	44						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTTTGTGTGACAACATGGA	0.483																																						ENST00000373842.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(130-132)Gac>Aac		mediator complex subunit 18							210.0	199.0	203.0					1																	28660984		2203	4300	6503	SO:0001583	missense	54797				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding	g.chr1:28660984G>A	BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"""mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"""			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.130G>A	1.37:g.28660984G>A	ENSP00000362948:p.Asp44Asn					MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.D44N	p.D44N	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)	3	339	+		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)	44					D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	c.130G>A	CCDS322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404917	0.96051	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.6	5.6	0.85130	Mediator complex, subunit Med18, metazoa/fungi (1);	0.099888	0.64402	D	0.000003	T	0.79969	0.4538	M	0.76838	2.35	0.38007	D	0.934414	D	0.89917	1.0	D	0.87578	0.998	T	0.82963	-0.0196	9	0.56958	D	0.05	-25.0413	17.0945	0.86631	0.0:0.0:1.0:0.0	.	44	Q9BUE0	MED18_HUMAN	N	44	.	ENSP00000362948:D44N	D	+	1	0	MED18	28533571	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.242000	0.95408	2.648000	0.89879	0.655000	0.94253	GAC		0.483	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		49	279	0	0	0	1	0	49	279				
ZNF645	158506	broad.mit.edu	37	X	22291314	22291314	+	Missense_Mutation	SNP	G	G	A	rs571107659		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:22291314G>A	ENST00000323684.1	+	1	250	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(205-207)cGa>cAa		zinc finger protein 645							70.0	65.0	67.0					X																	22291314		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291314G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.206G>A	X.37:g.22291314G>A	ENSP00000323348:p.Arg69Gln						p.R69Q	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	250	+			69					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.206G>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595259	0.66219	.	.	ENSG00000175809	ENST00000323684	T	0.59364	0.27	3.23	0.391	0.16282	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	U	0.000001	T	0.52075	0.1712	M	0.72894	2.215	0.33244	D	0.557639	D	0.55172	0.97	P	0.44732	0.459	T	0.61407	-0.7069	10	0.87932	D	0	.	4.5768	0.12238	0.2382:0.1823:0.5795:0.0	.	69	Q8N7E2	ZN645_HUMAN	Q	69	ENSP00000323348:R69Q	ENSP00000323348:R69Q	R	+	2	0	ZNF645	22201235	0.111000	0.22076	0.002000	0.10522	0.374000	0.29953	1.423000	0.34837	-0.026000	0.13895	0.436000	0.28706	CGA		0.383	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		15	79	0	0	0	1	0	15	79				
CTD-2090I13.1	0	broad.mit.edu	37	1	227618263	227618263	+	lincRNA	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:227618263C>T	ENST00000445817.1	+	0	1498																											CCAGCATATTCTGCGAGTACT	0.498																																						ENST00000445817.1																			0																																																			0							g.chr1:227618263C>T																													1.37:g.227618263C>T														0	1498	+									RNA	SNP	ENST00000445817.1	37																																																																																						0.498	CTD-2090I13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000091688.1			11	68	0	0	0	1	0	11	68				
PLA2G7	7941	broad.mit.edu	37	6	46679238	46679238	+	Missense_Mutation	SNP	C	C	G	rs200979587		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:46679238C>G	ENST00000274793.7	-	7	854	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	PLA2G7_ENST00000537365.1_Missense_Mutation_p.E220Q|PLA2G7_ENST00000541026.1_Missense_Mutation_p.E93Q|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E175Q	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	220					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGTACCTGCTCATTTCGTATA	0.408																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(658-660)Gag>Cag		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							292.0	255.0	268.0					6																	46679238		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46679238C>G	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.658G>C	6.37:g.46679238C>G	ENSP00000274793:p.Glu220Gln					PLA2G7_ENST00000541026.1_Missense_Mutation_p.E93Q|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E175Q|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E220Q	p.E220Q	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		7	854	-			220					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.658G>C	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	3.986	-0.005470	0.07773	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.58	-11.2	0.00127	.	2.236400	0.01885	N	0.038179	T	0.09423	0.0232	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.10296	0.001;0.002;0.003;0.003	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.30268	-0.9984	10	0.13853	T	0.58	.	0.9537	0.01381	0.2286:0.3838:0.2183:0.1693	.	93;175;220;220	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	Q	220;220;175;93	ENSP00000274793:E220Q;ENSP00000445666:E220Q;ENSP00000441416:E175Q;ENSP00000444164:E93Q	ENSP00000274793:E220Q	E	-	1	0	PLA2G7	46787197	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-5.570000	0.00112	-2.811000	0.00347	-1.640000	0.00773	GAG		0.408	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			5	135	0	0	0	1	0	5	135				
NBEA	26960	broad.mit.edu	37	13	35615256	35615256	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:35615256G>A	ENST00000400445.3	+	2	1015	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	NBEA_ENST00000540320.1_Missense_Mutation_p.E161K|NBEA_ENST00000379939.2_Missense_Mutation_p.E161K|NBEA_ENST00000310336.4_Missense_Mutation_p.E161K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	161					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGGCTAATTGAACAAGTATT	0.368																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(481-483)Gaa>Aaa		neurobeachin							69.0	65.0	66.0					13																	35615256		1896	4128	6024	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35615256G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.481G>A	13.37:g.35615256G>A	ENSP00000383295:p.Glu161Lys					NBEA_ENST00000310336.4_Missense_Mutation_p.E161K|NBEA_ENST00000379939.2_Missense_Mutation_p.E161K|NBEA_ENST00000400445.3_Missense_Mutation_p.E161K	p.E161K			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	2	1015	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	161					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.481G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933350	0.52866	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.43	5.43	0.79202	.	0.124068	0.56097	D	0.000039	T	0.43656	0.1257	L	0.52759	1.655	0.80722	D	1	B	0.30793	0.295	B	0.29077	0.098	T	0.32693	-0.9897	10	0.12766	T	0.61	.	19.2626	0.93974	0.0:0.0:1.0:0.0	.	161	Q5T321	.	K	161	ENSP00000440951:E161K;ENSP00000383295:E161K;ENSP00000369271:E161K;ENSP00000308534:E161K	ENSP00000308534:E161K	E	+	1	0	NBEA	34513256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.102000	0.71486	2.544000	0.85801	0.585000	0.79938	GAA		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		5	48	0	0	0	1	0	5	48				
EDC3	80153	broad.mit.edu	37	15	74948152	74948152	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:74948152C>T	ENST00000315127.4	-	4	923	c.742G>A	c.(742-744)Gag>Aag	p.E248K	EDC3_ENST00000426797.3_Missense_Mutation_p.E248K|EDC3_ENST00000568176.1_Missense_Mutation_p.E248K	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	248	Required for interaction with DDX6. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AAGATGTTCTCATCATGGCGG	0.537																																						ENST00000315127.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(742-744)Gag>Aag		enhancer of mRNA decapping 3							140.0	117.0	125.0					15																	74948152		2197	4296	6493	SO:0001583	missense	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74948152C>T	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.742G>A	15.37:g.74948152C>T	ENSP00000320503:p.Glu248Lys					EDC3_ENST00000568176.1_Missense_Mutation_p.E248K|EDC3_ENST00000426797.3_Missense_Mutation_p.E248K	p.E248K	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN			4	923	-			248			Required for interaction with DDX6 (By similarity).		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	c.742G>A	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769919	0.90020	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.55	5.55	0.83447	.	0.105376	0.64402	D	0.000005	T	0.66694	0.2815	L	0.60455	1.87	0.80722	D	1	B	0.21753	0.06	B	0.26202	0.067	T	0.62220	-0.6900	9	0.38643	T	0.18	-15.5516	18.489	0.90839	0.0:1.0:0.0:0.0	.	248	Q96F86	EDC3_HUMAN	K	248	.	ENSP00000320503:E248K	E	-	1	0	EDC3	72735205	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.274000	0.78538	2.612000	0.88384	0.655000	0.94253	GAG		0.537	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		12	73	0	0	0	1	0	12	73				
REEP1	65055	broad.mit.edu	37	2	86491153	86491153	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:86491153C>T	ENST00000165698.5	-	3	260	c.117G>A	c.(115-117)atG>atA	p.M39I	REEP1_ENST00000540790.1_Missense_Mutation_p.M18I|REEP1_ENST00000535845.1_Missense_Mutation_p.M12I|REEP1_ENST00000538924.1_Missense_Mutation_p.M46I|REEP1_ENST00000541910.1_Missense_Mutation_p.M39I|REEP1_ENST00000473407.1_5'UTR	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	39					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAGTACATCATCCATTTGA	0.458																																						ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(115-117)atG>atA		receptor accessory protein 1							154.0	128.0	137.0					2																	86491153		2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86491153C>T	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.117G>A	2.37:g.86491153C>T	ENSP00000165698:p.Met39Ile					REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.M39I|REEP1_ENST00000540790.1_Missense_Mutation_p.M18I|REEP1_ENST00000538924.1_Missense_Mutation_p.M46I|REEP1_ENST00000535845.1_Missense_Mutation_p.M12I	p.M39I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			3	260	-			39					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.117G>A	CCDS1989.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212409	0.79240	.	.	ENSG00000068615	ENST00000165698;ENST00000541910;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000437769;ENST00000453231;ENST00000428491	D;D;D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	5.57	5.57	0.84162	.	0.034430	0.85682	D	0.000000	D	0.96525	0.8866	M	0.88181	2.935	0.80722	D	1	P;P;B;P	0.42248	0.774;0.774;0.357;0.645	P;P;B;P	0.58577	0.841;0.627;0.219;0.516	D	0.96347	0.9255	10	0.56958	D	0.05	.	19.1581	0.93520	0.0:1.0:0.0:0.0	.	39;12;18;39	B7Z4D7;B7Z5R9;F5H7Z9;Q9H902	.;.;.;REEP1_HUMAN	I	39;39;46;12;18;39;46;12	ENSP00000165698:M39I;ENSP00000442681:M39I;ENSP00000438346:M46I;ENSP00000437567:M12I;ENSP00000443831:M18I;ENSP00000401140:M39I;ENSP00000392197:M46I;ENSP00000400607:M12I	ENSP00000165698:M39I	M	-	3	0	REEP1	86344664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.786000	0.85741	2.638000	0.89438	0.573000	0.79308	ATG		0.458	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		13	101	0	0	0	1	0	13	101				
TAF2	6873	broad.mit.edu	37	8	120768299	120768299	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:120768299G>A	ENST00000378164.2	-	22	3123	c.2825C>T	c.(2824-2826)tCt>tTt	p.S942F	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	942					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCATAAGGGAGACTCCATGTT	0.328																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2824-2826)tCt>tTt		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							107.0	107.0	107.0					8																	120768299		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120768299G>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2825C>T	8.37:g.120768299G>A	ENSP00000367406:p.Ser942Phe					TAF2_ENST00000519355.1_5'UTR	p.S942F	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		22	3123	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		942					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2825C>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634184	0.87660	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.33438	1.41;1.41	4.6	4.6	0.57074	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.71581	2.175	0.80722	D	1	P	0.45634	0.863	P	0.47645	0.553	T	0.43637	-0.9379	10	0.41790	T	0.15	-31.9181	17.7775	0.88514	0.0:0.0:1.0:0.0	.	942	Q6P1X5	TAF2_HUMAN	F	942;66	ENSP00000367406:S942F;ENSP00000436750:S66F	ENSP00000367406:S942F	S	-	2	0	TAF2	120837480	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.765000	0.98953	2.265000	0.75225	0.650000	0.86243	TCT		0.328	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		7	54	0	0	0	1	0	7	54				
TMEM246	84302	broad.mit.edu	37	9	104238630	104238630	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:104238630C>T	ENST00000374851.1	-	4	1892	c.745G>A	c.(745-747)Gag>Aag	p.E249K	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.E249K|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.E249K			Q9BRR3	TM246_HUMAN	transmembrane protein 246	249						integral component of membrane (GO:0016021)		p.E249K(1)									TGGAGCCTCTCGGGGTGATAC	0.537																																						ENST00000374851.1																			1	Substitution - Missense(1)	p.E249K(1)	endometrium(1)								c.(745-747)Gag>Aag		transmembrane protein 246							83.0	84.0	83.0					9																	104238630		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238630C>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.745G>A	9.37:g.104238630C>T	ENSP00000363984:p.Glu249Lys					TMEM246_ENST00000374847.1_Missense_Mutation_p.E249K|TMEM246_ENST00000374848.3_Missense_Mutation_p.E249K|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA	p.E249K			Q9BRR3	CI125_HUMAN			4	1892	-			249					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.745G>A	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053607	0.93793	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.82935	0.5145	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84048	0.0368	9	0.66056	D	0.02	-19.0973	18.8025	0.92023	0.0:1.0:0.0:0.0	.	249	Q9BRR3	CI125_HUMAN	K	249	.	ENSP00000363980:E249K	E	-	1	0	C9orf125	103278451	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	5.805000	0.69143	2.696000	0.92011	0.557000	0.71058	GAG		0.537	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		4	131	0	0	0	1	0	4	131				
PPDPF	79144	broad.mit.edu	37	20	62153098	62153098	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:62153098G>A	ENST00000370179.3	+	4	407	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	PPDPF_ENST00000473620.1_3'UTR|PPDPF_ENST00000370177.1_Missense_Mutation_p.V97M	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	71					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					kidney(1)|lung(2)|ovary(1)	4						CATGGCCACGGTGTTGGAGTC	0.657																																						ENST00000370179.3																			0				kidney(1)|lung(2)|ovary(1)	4						c.(211-213)Gtg>Atg		pancreatic progenitor cell differentiation and proliferation factor							58.0	57.0	57.0					20																	62153098		2202	4300	6502	SO:0001583	missense	79144				cell differentiation|multicellular organismal development			g.chr20:62153098G>A	AL121829	CCDS13523.1	20q13.33	2013-07-23	2013-07-23	2009-06-04	ENSG00000125534	ENSG00000125534			16142	protein-coding gene	gene with protein product	"""exocrine differentiation and proliferation factor"""		"""chromosome 20 open reading frame 149"", ""pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)"""	C20orf149			Standard	NM_024299		Approved	dJ697K14.9, exdpf	uc002yff.3	Q9H3Y8	OTTHUMG00000032978	ENST00000370179.3:c.211G>A	20.37:g.62153098G>A	ENSP00000359198:p.Val71Met					PPDPF_ENST00000370177.1_Missense_Mutation_p.V97M|PPDPF_ENST00000473620.1_3'UTR	p.V71M	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN			4	407	+			71					E1P5J2|Q4VXP1|Q9H3Y7	Missense_Mutation	SNP	ENST00000370179.3	37	c.211G>A	CCDS13523.1	.	.	.	.	.	.	.	.	.	.	.	14.65	2.599148	0.46318	.	.	ENSG00000125534	ENST00000370179;ENST00000370177	.	.	.	4.62	2.66	0.31614	.	0.324591	0.28436	N	0.015353	T	0.46927	0.1418	M	0.71296	2.17	0.21762	N	0.999559	P	0.47191	0.891	P	0.47299	0.543	T	0.39078	-0.9631	9	0.52906	T	0.07	-12.4304	10.2716	0.43487	0.1638:0.0:0.8362:0.0	.	71	Q9H3Y8	PPDPF_HUMAN	M	71;97	.	ENSP00000359196:V97M	V	+	1	0	PPDPF	61623542	1.000000	0.71417	0.006000	0.13384	0.045000	0.14185	4.987000	0.63857	0.387000	0.25024	0.650000	0.86243	GTG		0.657	PPDPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080149.1			10	50	0	0	0	1	0	10	50				
GOLPH3	64083	broad.mit.edu	37	5	32126511	32126511	+	Missense_Mutation	SNP	C	C	T	rs192633198		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:32126511C>T	ENST00000265070.6	-	4	1019	c.704G>A	c.(703-705)cGc>cAc	p.R235H	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	235					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.R235H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GGCCAGCAAGCGCCTGTCCAT	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19176	0.0		0.0	False		,,,				2504	0.0					ENST00000265070.6																			1	Substitution - Missense(1)	p.R235H(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(703-705)cGc>cAc		golgi phosphoprotein 3 (coat-protein)		C	HIS/ARG	0,4406		0,0,2203	160.0	142.0	148.0		704	5.3	1.0	5		148	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GOLPH3	NM_022130.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	235/299	32126511	2,13004	2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126511C>T	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.704G>A	5.37:g.32126511C>T	ENSP00000265070:p.Arg235His						p.R235H	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1019	-			235					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.704G>A	CCDS3896.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	15.33	2.801010	0.50315	0.0	2.33E-4	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88846	0.3316	9	0.87932	D	0	-10.5279	15.9972	0.80260	0.0:0.935:0.0:0.065	.	235	Q9H4A6	GOLP3_HUMAN	H	235;218	.	ENSP00000265070:R235H	R	-	2	0	GOLPH3	32162268	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	5.730000	0.68546	2.941000	0.99782	0.655000	0.94253	CGC		0.517	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		8	98	0	0	0	1	0	8	98				
IMPACT	55364	broad.mit.edu	37	18	22020498	22020498	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:22020498G>A	ENST00000284202.4	+	6	547	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	136					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGAAGATGTTGAATGTGAAGA	0.358																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(406-408)Gaa>Aaa		impact RWD domain protein							154.0	141.0	145.0					18																	22020498		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22020498G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.406G>A	18.37:g.22020498G>A	ENSP00000284202:p.Glu136Lys						p.E136K	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			6	547	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		136					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.406G>A	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477729	0.26511	.	.	ENSG00000154059	ENST00000284202	T	0.30714	1.52	4.97	3.11	0.35812	.	0.338854	0.32273	N	0.006321	T	0.26738	0.0654	M	0.61703	1.905	0.09310	N	1	P	0.35656	0.514	B	0.33521	0.165	T	0.16660	-1.0395	10	0.10636	T	0.68	.	11.5567	0.50752	0.0:0.3481:0.6519:0.0	.	136	Q9P2X3	IMPCT_HUMAN	K	136	ENSP00000284202:E136K	ENSP00000284202:E136K	E	+	1	0	IMPACT	20274496	0.972000	0.33761	0.002000	0.10522	0.985000	0.73830	2.710000	0.47169	0.445000	0.26639	0.563000	0.77884	GAA		0.358	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		22	103	0	0	0	1	0	22	103				
AHNAK	79026	broad.mit.edu	37	11	62287510	62287510	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:62287510G>A	ENST00000378024.4	-	5	14653	c.14379C>T	c.(14377-14379)ttC>ttT	p.F4793F	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4793					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTCCTTTGAAGCCAGGCA	0.517																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14377-14379)ttC>ttT		AHNAK nucleoprotein							223.0	216.0	219.0					11																	62287510		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287510G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14379C>T	11.37:g.62287510G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F4793F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14653	-		Melanoma(852;0.155)	4793					A1A586	Silent	SNP	ENST00000378024.4	37	c.14379C>T	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		53	341	0	0	0	1	0	53	341				
SPATA7	55812	broad.mit.edu	37	14	88892873	88892873	+	Missense_Mutation	SNP	G	G	A	rs139160202		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:88892873G>A	ENST00000393545.4	+	6	959	c.670G>A	c.(670-672)Gat>Aat	p.D224N	SPATA7_ENST00000356583.5_Missense_Mutation_p.D192N|SPATA7_ENST00000556553.1_Missense_Mutation_p.D192N|SPATA7_ENST00000045347.7_Missense_Mutation_p.D224N	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	224					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						ACCCAGTGGGGATCTTTTGGA	0.448																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(574-576)Gat>Aat		spermatogenesis associated 7							64.0	66.0	65.0					14																	88892873		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88892873G>A	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.670G>A	14.37:g.88892873G>A	ENSP00000377176:p.Asp224Asn					SPATA7_ENST00000393545.4_Missense_Mutation_p.D224N|SPATA7_ENST00000045347.7_Missense_Mutation_p.D224N|SPATA7_ENST00000356583.5_Missense_Mutation_p.D192N	p.D192N			Q9P0W8	SPAT7_HUMAN			6	1133	+			224					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.574G>A	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088419	0.94100	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000553885;ENST00000045347	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.34	5.34	0.76211	.	0.131189	0.49305	D	0.000143	T	0.63200	0.2491	M	0.78049	2.395	0.46849	D	0.999228	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.65590	-0.6131	10	0.59425	D	0.04	-22.729	18.1813	0.89779	0.0:0.0:1.0:0.0	.	192;192;224	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	N	192;224;192;210;224	ENSP00000451128:D192N;ENSP00000377176:D224N;ENSP00000348991:D192N;ENSP00000450606:D210N;ENSP00000045347:D224N	ENSP00000045347:D224N	D	+	1	0	SPATA7	87962626	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.298000	0.78815	2.642000	0.89623	0.650000	0.86243	GAT		0.448	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			15	95	0	0	0	1	0	15	95				
STX18	53407	broad.mit.edu	37	4	4543550	4543550	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:4543550C>T	ENST00000306200.2	-	1	205	c.142G>A	c.(142-144)Gac>Aac	p.D48N	STX18-AS1_ENST00000507244.1_RNA|STX18-AS1_ENST00000502693.1_RNA|STX18-AS1_ENST00000499430.2_RNA|STX18-AS1_ENST00000512438.1_RNA|STX18-AS1_ENST00000514763.1_RNA|STX18-AS1_ENST00000610009.1_RNA|STX18_ENST00000505286.1_Missense_Mutation_p.D48N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	48					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CTGGAGAAGTCGCCCTTGGGC	0.711																																						ENST00000306200.2																			0				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(142-144)Gac>Aac		syntaxin 18							14.0	17.0	16.0					4																	4543550		2192	4277	6469	SO:0001583	missense	53407				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	g.chr4:4543550C>T	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.142G>A	4.37:g.4543550C>T	ENSP00000305810:p.Asp48Asn					STX18_ENST00000505286.1_Missense_Mutation_p.D48N	p.D48N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)	1	205	-			48					Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	37	c.142G>A	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750158	0.69533	.	.	ENSG00000168818	ENST00000505286;ENST00000306200	T;T	0.30714	1.52;1.52	4.88	4.88	0.63580	SNARE-complex protein Syntaxin-18 N-terminal (1);	0.123853	0.56097	D	0.000029	T	0.29093	0.0723	L	0.47190	1.495	0.43965	D	0.996645	B	0.24317	0.101	B	0.20384	0.029	T	0.05321	-1.0892	10	0.21014	T	0.42	-17.0978	17.8104	0.88613	0.0:1.0:0.0:0.0	.	48	Q9P2W9	STX18_HUMAN	N	48	ENSP00000426648:D48N;ENSP00000305810:D48N	ENSP00000305810:D48N	D	-	1	0	STX18	4594451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.957000	0.56730	2.547000	0.85894	0.561000	0.74099	GAC		0.711	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			4	45	0	0	0	1	0	4	45				
C1GALT1C1	29071	broad.mit.edu	37	X	119760659	119760659	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:119760659C>G	ENST00000304661.5	-	2	601	c.363G>C	c.(361-363)atG>atC	p.M121I	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.M121I	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	121					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						CTTTTCTCATCATTAACCACA	0.373																																						ENST00000304661.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(361-363)atG>atC		C1GALT1-specific chaperone 1							74.0	73.0	74.0					X																	119760659		2203	4300	6503	SO:0001583	missense	29071					integral to membrane		g.chrX:119760659C>G	AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.363G>C	X.37:g.119760659C>G	ENSP00000304364:p.Met121Ile					C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.M121I	p.M121I	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN			2	601	-			121					A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	ENST00000304661.5	37	c.363G>C	CCDS14602.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441310	0.43326	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.41758	0.99;0.99	5.14	5.14	0.70334	.	0.120176	0.85682	D	0.000000	T	0.41143	0.1146	L	0.57536	1.79	0.49389	D	0.999785	B	0.02656	0.0	B	0.04013	0.001	T	0.22977	-1.0201	9	.	.	.	-6.9223	16.3759	0.83392	0.0:1.0:0.0:0.0	.	121	Q96EU7	C1GLC_HUMAN	I	121	ENSP00000304364:M121I;ENSP00000360363:M121I	.	M	-	3	0	C1GALT1C1	119644687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.698000	0.68302	2.259000	0.74868	0.544000	0.68410	ATG		0.373	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1	NM_152692		16	94	0	0	0	1	0	16	94				
CCDC136	64753	broad.mit.edu	37	7	128445932	128445932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:128445932C>T	ENST00000297788.4	+	7	1433	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	CCDC136_ENST00000378685.4_Nonsense_Mutation_p.Q394*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.Q356*|CCDC136_ENST00000464832.1_Nonsense_Mutation_p.Q406*	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	356						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTTCGGTTTCAGACCTCCCA	0.612																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(1066-1068)Cag>Tag		coiled-coil domain containing 136							70.0	79.0	76.0					7																	128445932		2099	4223	6322	SO:0001587	stop_gained	64753					integral to membrane	protein binding	g.chr7:128445932C>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1066C>T	7.37:g.128445932C>T	ENSP00000297788:p.Gln356*					CCDC136_ENST00000464832.1_Nonsense_Mutation_p.Q406*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.Q394*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.Q356*	p.Q356*	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			7	1433	+			356					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Nonsense_Mutation	SNP	ENST00000297788.4	37	c.1066C>T	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	41	8.838069	0.98972	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	.	.	.	5.32	4.35	0.52113	.	0.355088	0.29537	N	0.011872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-25.0827	11.998	0.53214	0.2499:0.75:0.0:0.0	.	.	.	.	X	394;406;356;356;356;356	.	ENSP00000297788:Q356X	Q	+	1	0	CCDC136	128233168	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.532000	0.36029	2.504000	0.84457	0.655000	0.94253	CAG		0.612	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		9	38	0	0	0	1	0	9	38				
C10orf53	282966	broad.mit.edu	37	10	50916500	50916500	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:50916500C>T	ENST00000374112.3	+	3	323	c.311C>T	c.(310-312)cCt>cTt	p.P104L	C10orf53_ENST00000535836.1_Missense_Mutation_p.P104L	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				aaagtttctcctttgcaacag	0.493																																						ENST00000374112.3																			0				endometrium(1)|lung(6)	7						c.(310-312)cCt>cTt		chromosome 10 open reading frame 53							159.0	149.0	152.0					10																	50916500		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50916500C>T	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.311C>T	10.37:g.50916500C>T	ENSP00000363226:p.Pro104Leu					C10orf53_ENST00000535836.1_Missense_Mutation_p.P104L	p.P104L	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN			3	323	+		all_neural(218;0.107)	0					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374112.3	37	c.311C>T	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	C	9.271	1.045700	0.19748	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	2.14	-0.909	0.10514	.	7739.210000	0.00166	N	0.000001	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28459	-1.0043	9	0.87932	D	0	-3.3237	5.0517	0.14513	0.0:0.4986:0.0:0.5014	.	104	B9ZVK6	.	L	104	.	ENSP00000363226:P104L	P	+	2	0	C10orf53	50586506	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.246000	0.08878	-0.246000	0.09611	0.491000	0.48974	CCT		0.493	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	NM_182554		14	170	0	0	0	1	0	14	170				
HSPBAP1	79663	broad.mit.edu	37	3	122459417	122459417	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:122459417C>G	ENST00000306103.2	-	8	1385	c.1242G>C	c.(1240-1242)ggG>ggC	p.G414G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	414						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CAAAGTCTTTCCCATCACTTC	0.468																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1240-1242)ggG>ggC		HSPB (heat shock 27kDa) associated protein 1							191.0	176.0	181.0					3																	122459417		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122459417C>G	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1242G>C	3.37:g.122459417C>G						HSPBAP1_ENST00000383659.1_3'UTR	p.G414G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1385	-			414					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.1242G>C	CCDS3017.1																																																																																				0.468	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		21	161	0	0	0	1	0	21	161				
RNF4	6047	broad.mit.edu	37	4	2514856	2514856	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:2514856G>A	ENST00000511600.1	+	7	1936	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RNF4_ENST00000541204.1_Missense_Mutation_p.E141K|RNF4_ENST00000511859.1_Silent_p.Q87Q|RNF4_ENST00000314289.8_Missense_Mutation_p.E141K|RNF4_ENST00000506706.1_Missense_Mutation_p.E141K			P78317	RNF4_HUMAN	ring finger protein 4	141					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CGGATACTCAGAGGTAAGTAA	0.458																																						ENST00000511600.1																			0				endometrium(2)|kidney(2)|lung(1)	5						c.(421-423)Gag>Aag		ring finger protein 4							286.0	275.0	279.0					4																	2514856		1946	4161	6107	SO:0001583	missense	6047				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:2514856G>A	U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.421G>A	4.37:g.2514856G>A	ENSP00000426503:p.Glu141Lys					RNF4_ENST00000541204.1_Missense_Mutation_p.E141K|RNF4_ENST00000314289.8_Missense_Mutation_p.E141K|RNF4_ENST00000506706.1_Missense_Mutation_p.E141K|RNF4_ENST00000511859.1_Silent_p.Q87Q	p.E141K			P78317	RNF4_HUMAN			7	1936	+		all_epithelial(65;0.241)	141					B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	ENST00000511600.1	37	c.421G>A	CCDS47001.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174350	0.94807	.	.	ENSG00000063978	ENST00000314289;ENST00000541204;ENST00000502316;ENST00000506706;ENST00000511600	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.73	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73547	-0.3948	9	0.59425	D	0.04	-28.6777	16.862	0.86021	0.0:0.0:1.0:0.0	.	141	P78317	RNF4_HUMAN	K	141	ENSP00000315212:E141K;ENSP00000446369:E141K;ENSP00000423100:E141K;ENSP00000424076:E141K;ENSP00000426503:E141K	ENSP00000315212:E141K	E	+	1	0	RNF4	2484654	1.000000	0.71417	0.947000	0.38551	0.717000	0.41224	8.252000	0.89840	2.455000	0.83008	0.655000	0.94253	GAG		0.458	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1	NM_002938		33	266	0	0	0	1	0	33	266				
PDE4DIP	9659	broad.mit.edu	37	1	144871748	144871748	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:144871748G>T	ENST00000369354.3	-	32	5403	c.5214C>A	c.(5212-5214)tcC>tcA	p.S1738S	PDE4DIP_ENST00000369356.4_Silent_p.S1738S|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.S1874S|PDE4DIP_ENST00000530740.1_Silent_p.S1823S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1738					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCAGCCAAGGAGACCACTG	0.582			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(5620-5622)tcC>tcA		phosphodiesterase 4D interacting protein							117.0	117.0	117.0					1																	144871748		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144871748G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5214C>A	1.37:g.144871748G>T						PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.S1738S|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Silent_p.S1738S|PDE4DIP_ENST00000530740.1_Silent_p.S1823S	p.S1874S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	35	5660	-			1738					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.5622C>A	CCDS30824.1																																																																																				0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		9	166	1	0	0.00829132	1	0.0083485	9	166				
ZNF148	7707	broad.mit.edu	37	3	124952001	124952001	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:124952001C>T	ENST00000360647.4	-	9	2054	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Silent_p.L523L|ZNF148_ENST00000492394.1_Silent_p.L523L|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Silent_p.L523L	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	523					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACATTCAGTGCCTGTG	0.428																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1567-1569)ctG>ctA		zinc finger protein 148							137.0	126.0	130.0					3																	124952001		2203	4300	6503	SO:0001819	synonymous_variant	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952001C>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1569G>A	3.37:g.124952001C>T						ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Silent_p.L523L|ZNF148_ENST00000484491.1_Silent_p.L523L|ZNF148_ENST00000485866.1_Silent_p.L523L	p.L523L	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	2054	-			523					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Silent	SNP	ENST00000360647.4	37	c.1569G>A	CCDS3031.1																																																																																				0.428	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		24	149	0	0	0	1	0	24	149				
NUP93	9688	broad.mit.edu	37	16	56867258	56867258	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56867258G>A	ENST00000308159.5	+	13	1598	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	NUP93_ENST00000564887.1_Missense_Mutation_p.A370T|NUP93_ENST00000542526.1_Missense_Mutation_p.A370T|NUP93_ENST00000569842.1_Missense_Mutation_p.A493T	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	493					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGTCCATGTAGCACTGGTGCT	0.507																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1108-1110)Gca>Aca		nucleoporin 93kDa							98.0	84.0	89.0					16																	56867258		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56867258G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1477G>A	16.37:g.56867258G>A	ENSP00000310668:p.Ala493Thr					NUP93_ENST00000569842.1_Missense_Mutation_p.A493T|NUP93_ENST00000308159.5_Missense_Mutation_p.A493T|NUP93_ENST00000542526.1_Missense_Mutation_p.A370T	p.A370T	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			11	1737	+			493					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.1108G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755200	0.96898	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.73152	-0.72;-0.72	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	M	0.84773	2.715	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.87972	0.2737	10	0.72032	D	0.01	-13.2157	19.2863	0.94072	0.0:0.0:1.0:0.0	.	493	Q8N1F7	NUP93_HUMAN	T	493;370	ENSP00000310668:A493T;ENSP00000440235:A370T	ENSP00000310668:A493T	A	+	1	0	NUP93	55424759	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.558000	0.86282	0.591000	0.81541	GCA		0.507	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		13	86	0	0	0	1	0	13	86				
IQGAP1	8826	broad.mit.edu	37	15	90982576	90982576	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:90982576C>G	ENST00000268182.5	+	6	604	c.480C>G	c.(478-480)ttC>ttG	p.F160L	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	160					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTACCTGTTCAAGCTAGGCC	0.433																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(478-480)ttC>ttG		IQ motif containing GTPase activating protein 1							148.0	126.0	134.0					15																	90982576		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90982576C>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.480C>G	15.37:g.90982576C>G	ENSP00000268182:p.Phe160Leu					IQGAP1_ENST00000560738.1_Intron	p.F160L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		6	604	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		160					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.480C>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111946	0.77210	.	.	ENSG00000140575	ENST00000268182	T	0.39997	1.05	5.15	5.15	0.70609	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.87758	2.905	0.80722	D	1	P	0.41102	0.738	B	0.42422	0.387	T	0.56335	-0.7996	10	0.48119	T	0.1	-19.7102	9.448	0.38710	0.0:0.8411:0.0:0.1589	.	160	P46940	IQGA1_HUMAN	L	160	ENSP00000268182:F160L	ENSP00000268182:F160L	F	+	3	2	IQGAP1	88783580	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.020000	0.41010	2.683000	0.91414	0.561000	0.74099	TTC		0.433	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		4	39	0	0	0	1	0	4	39				
WDR49	151790	broad.mit.edu	37	3	167248966	167248966	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:167248966C>G	ENST00000308378.3	-	9	1404	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.E192Q|WDR49_ENST00000453925.2_Missense_Mutation_p.E431Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	367										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTTTGCCCTCAGTGTCAATC	0.408																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1099-1101)Gag>Cag		WD repeat domain 49							86.0	90.0	89.0					3																	167248966		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167248966C>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1099G>C	3.37:g.167248966C>G	ENSP00000311343:p.Glu367Gln					WDR49_ENST00000476376.1_Missense_Mutation_p.E192Q|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.E431Q	p.E367Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			9	1404	-			367					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1099G>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595715	0.28445	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.42513	1.58;1.84;0.97	5.55	0.101	0.14517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.753273	0.13140	N	0.410710	T	0.30696	0.0773	L	0.50333	1.59	0.09310	N	1	B;B	0.22414	0.069;0.03	B;B	0.15870	0.014;0.008	T	0.24297	-1.0164	10	0.20046	T	0.44	.	6.8959	0.24255	0.0:0.6456:0.1165:0.2379	.	431;367	E7EQK3;Q8IV35	.;WDR49_HUMAN	Q	367;192;431	ENSP00000311343:E367Q;ENSP00000420508:E192Q;ENSP00000410863:E431Q	ENSP00000311343:E367Q	E	-	1	0	WDR49	168731660	0.104000	0.21937	0.000000	0.03702	0.066000	0.16364	0.407000	0.21049	-0.302000	0.08869	0.557000	0.71058	GAG		0.408	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		7	72	0	0	0	1	0	7	72				
POU4F3	5459	broad.mit.edu	37	5	145719521	145719521	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:145719521C>T	ENST00000230732.4	+	2	620	c.531C>T	c.(529-531)ctC>ctT	p.L177L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	177					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCATGCCTCAGCGACGTGG	0.692																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(529-531)ctC>ctT		POU class 4 homeobox 3							42.0	44.0	43.0					5																	145719521		2203	4298	6501	SO:0001819	synonymous_variant	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719521C>T	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.531C>T	5.37:g.145719521C>T						CTC-359M8.1_ENST00000515598.1_RNA	p.L177L	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	620	+			177					O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	37	c.531C>T	CCDS4281.1																																																																																				0.692	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		6	87	0	0	0	1	0	6	87				
FCGBP	8857	broad.mit.edu	37	19	40368749	40368749	+	Missense_Mutation	SNP	C	C	T	rs377237982	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:40368749C>T	ENST00000221347.6	-	28	12606	c.12599G>A	c.(12598-12600)cGg>cAg	p.R4200Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.R4200L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGTCTACCCGCCAGTTCCA	0.607													C|||	4	0.000798722	0.0008	0.0	5008	,	,		36686	0.0		0.0	False		,,,				2504	0.0031					ENST00000221347.6																			1	Substitution - Missense(1)	p.R4200L(1)	lung(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12598-12600)cGg>cAg		Fc fragment of IgG binding protein		C	GLN/ARG	0,4406		0,0,2203	196.0	206.0	203.0		12599	2.9	0.4	19		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	FCGBP	NM_003890.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4200/5406	40368749	1,13005	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368749C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12599G>A	19.37:g.40368749C>T	ENSP00000221347:p.Arg4200Gln						p.R4200Q	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12606	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4200			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12599G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416648	0.25552	0.0	1.16E-4	ENSG00000090920	ENST00000221347	T	0.59638	0.25	3.92	2.89	0.33648	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.45115	0.1326	L	0.52364	1.645	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.29150	-1.0021	9	0.25751	T	0.34	.	3.514	0.07718	0.2005:0.5858:0.0:0.2137	.	4200	Q9Y6R7	FCGBP_HUMAN	Q	4200	ENSP00000221347:R4200Q	ENSP00000221347:R4200Q	R	-	2	0	FCGBP	45060589	0.000000	0.05858	0.388000	0.26195	0.107000	0.19398	-1.185000	0.03073	1.005000	0.39183	0.305000	0.20034	CGG		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	196	0	0	0	1	0	5	196				
SSX1	6756	broad.mit.edu	37	X	48117231	48117231	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:48117231G>A	ENST00000376919.3	+	3	256	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	40	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GGAAAAAGATGAAATACTCGG	0.358			T	SS18	synovial sarcoma								N|||	2	0.000529801	0.0015	0.0	3775	,	,		15845	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(118-120)atG>atA		synovial sarcoma, X breakpoint 1							78.0	61.0	66.0					X																	48117231		2199	4299	6498	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48117231G>A	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.120G>A	X.37:g.48117231G>A	ENSP00000366118:p.Met40Ile						p.M40I	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			3	256	+			40			KRAB-related.		A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.120G>A	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	10.95	1.495213	0.26774	.	.	ENSG00000126752	ENST00000376919	T	0.00768	5.72	1.97	3.99E-4	0.14042	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.792557	0.10726	N	0.641139	T	0.01835	0.0058	M	0.81341	2.54	0.09310	N	1	P	0.35872	0.525	P	0.45428	0.48	T	0.39333	-0.9619	10	0.72032	D	0.01	.	2.1763	0.03863	0.2015:0.0:0.4928:0.3057	.	40	Q16384	SSX1_HUMAN	I	40	ENSP00000366118:M40I	ENSP00000366118:M40I	M	+	3	0	SSX1	48002175	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	0.414000	0.21164	-0.092000	0.12417	0.373000	0.22412	ATG		0.358	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		4	50	0	0	0	1	0	4	50				
KIAA2018	205717	broad.mit.edu	37	3	113376843	113376843	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:113376843G>C	ENST00000478658.1	-	5	3703	c.3686C>G	c.(3685-3687)tCa>tGa	p.S1229*	KIAA2018_ENST00000316407.4_Nonsense_Mutation_p.S1229*|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1229						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTGAGAAGTTGAATCCTGTAA	0.433																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(3685-3687)tCa>tGa		KIAA2018							81.0	81.0	81.0					3																	113376843		1984	4183	6167	SO:0001587	stop_gained	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113376843G>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3686C>G	3.37:g.113376843G>C	ENSP00000420721:p.Ser1229*					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.S1229*	p.S1229*	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	4096	-			1229					Q7Z3L9|Q8IVF3|Q9H8T4	Nonsense_Mutation	SNP	ENST00000478658.1	37	c.3686C>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552980	0.96501	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	.	.	.	5.67	5.67	0.87782	.	0.748493	0.12780	N	0.439714	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.2469	19.7704	0.96361	0.0:0.0:1.0:0.0	.	.	.	.	X	1229	.	ENSP00000320794:S1229X	S	-	2	0	KIAA2018	114859533	1.000000	0.71417	0.119000	0.21687	0.019000	0.09904	5.468000	0.66743	2.676000	0.91093	0.561000	0.74099	TCA		0.433	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		6	76	0	0	0	1	0	6	76				
INTS7	25896	broad.mit.edu	37	1	212154494	212154494	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:212154494C>T	ENST00000366994.3	-	10	1275	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	INTS7_ENST00000440600.2_Missense_Mutation_p.E342K|INTS7_ENST00000366992.3_Missense_Mutation_p.E391K|INTS7_ENST00000366993.3_Missense_Mutation_p.E391K|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	391					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		AGTAGGGATTCCAGGCCAAAG	0.363																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1171-1173)Gaa>Aaa		integrator complex subunit 7							96.0	87.0	90.0					1																	212154494		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212154494C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1171G>A	1.37:g.212154494C>T	ENSP00000355961:p.Glu391Lys					INTS7_ENST00000440600.2_Missense_Mutation_p.E342K|INTS7_ENST00000366992.3_Missense_Mutation_p.E391K|INTS7_ENST00000366993.3_Missense_Mutation_p.E391K|INTS7_ENST00000469606.1_5'UTR	p.E391K	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	10	1275	-			391					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.1171G>A	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342842	0.82022	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.28178	0.202;0.08;0.08;0.08	B;B;B;B	0.27887	0.058;0.058;0.084;0.084	T	0.04522	-1.0945	10	0.41790	T	0.15	-23.8581	19.4472	0.94852	0.0:1.0:0.0:0.0	.	342;391;391;391	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	K	391;391;391;342	ENSP00000355961:E391K;ENSP00000355960:E391K;ENSP00000355959:E391K;ENSP00000388908:E342K	ENSP00000355959:E391K	E	-	1	0	INTS7	210221117	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.791000	0.75120	2.665000	0.90641	0.650000	0.86243	GAA		0.363	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		8	61	0	0	0	1	0	8	61				
CNTNAP1	8506	broad.mit.edu	37	17	40839868	40839868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:40839868G>A	ENST00000264638.4	+	8	1392	c.1175G>A	c.(1174-1176)tGg>tAg	p.W392*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	392	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCCGCACCTGGGACCTCACC	0.642																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1174-1176)tGg>tAg		contactin associated protein 1							61.0	62.0	62.0					17																	40839868		2203	4300	6503	SO:0001587	stop_gained	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40839868G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1175G>A	17.37:g.40839868G>A	ENSP00000264638:p.Trp392*					CTD-3193K9.3_ENST00000592440.1_RNA	p.W392*	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1392	+		Breast(137;0.000143)	392			Laminin G-like 2.			Nonsense_Mutation	SNP	ENST00000264638.4	37	c.1175G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	40	7.933624	0.98568	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3261	0.90254	0.0:0.0:1.0:0.0	.	.	.	.	X	392	.	ENSP00000264638:W392X	W	+	2	0	CNTNAP1	38093394	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.471000	0.97696	2.302000	0.77476	0.655000	0.94253	TGG		0.642	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		18	72	0	0	0	1	0	18	72				
XPR1	9213	broad.mit.edu	37	1	180794073	180794073	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:180794073C>G	ENST00000367590.4	+	8	1146	c.948C>G	c.(946-948)ctC>ctG	p.L316L	XPR1_ENST00000367589.3_Silent_p.L316L|AL590085.1_ENST00000579998.1_RNA	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	316					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATCAACATCTCTTTGAGGTAA	0.388																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(946-948)ctC>ctG		xenotropic and polytropic retrovirus receptor 1							106.0	97.0	100.0					1																	180794073		2203	4300	6503	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180794073C>G	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.948C>G	1.37:g.180794073C>G						XPR1_ENST00000367589.3_Silent_p.L316L	p.L316L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			8	1146	+			316					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.948C>G	CCDS1340.1																																																																																				0.388	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		6	37	0	0	0	1	0	6	37				
ACO1	48	broad.mit.edu	37	9	32407278	32407278	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:32407278C>G	ENST00000309951.6	+	3	255	c.117C>G	c.(115-117)atC>atG	p.I39M	ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000379923.1_Missense_Mutation_p.I39M	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	39					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CATTTTCGATCAGAGTTCTTC	0.383																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(115-117)atC>atG		aconitase 1, soluble							106.0	108.0	108.0					9																	32407278		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32407278C>G	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.117C>G	9.37:g.32407278C>G	ENSP00000309477:p.Ile39Met					ACO1_ENST00000309951.5_Missense_Mutation_p.I39M|ACO1_ENST00000541043.1_5'UTR	p.I39M	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	4	323	+			39					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.117C>G	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525006	0.44969	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	T;T	0.18174	2.23;2.23	5.62	2.79	0.32731	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.05022	-1.0911	10	0.30078	T	0.28	-20.3121	5.09	0.14704	0.1475:0.6194:0.0:0.2331	.	39	P21399	ACOC_HUMAN	M	75;39;39;39	ENSP00000309477:I39M;ENSP00000369255:I39M	ENSP00000309477:I39M	I	+	3	3	ACO1	32397278	0.999000	0.42202	1.000000	0.80357	0.707000	0.40811	0.714000	0.25808	0.863000	0.35553	0.650000	0.86243	ATC		0.383	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		20	143	0	0	0	1	0	20	143				
KIF19	124602	broad.mit.edu	37	17	72348967	72348967	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:72348967C>G	ENST00000389916.4	+	15	2126	c.1988C>G	c.(1987-1989)tCc>tGc	p.S663C	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	663					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGGACAGCTCCTTGCCCAAA	0.547																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1987-1989)tCc>tGc		kinesin family member 19							119.0	128.0	125.0					17																	72348967		1984	4160	6144	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72348967C>G	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1988C>G	17.37:g.72348967C>G	ENSP00000374566:p.Ser663Cys						p.S663C	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			15	2126	+			663					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1988C>G	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711446	0.48517	.	.	ENSG00000196169	ENST00000389916	T	0.72835	-0.69	5.22	4.25	0.50352	.	.	.	.	.	T	0.65964	0.2742	L	0.55481	1.735	0.80722	D	1	B	0.22983	0.078	B	0.19946	0.027	T	0.66019	-0.6027	9	0.66056	D	0.02	.	12.9001	0.58121	0.0:0.9194:0.0:0.0805	.	663	Q2TAC6	KIF19_HUMAN	C	663	ENSP00000374566:S663C	ENSP00000374566:S663C	S	+	2	0	KIF19	69860562	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.078000	0.57606	1.351000	0.45789	0.456000	0.33151	TCC		0.547	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		17	161	0	0	0	1	0	17	161				
G0S2	50486	broad.mit.edu	37	1	209849179	209849179	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:209849179C>T	ENST00000367029.4	+	2	312	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	50					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		GCAGCCCCTTCACGGCCGCCA	0.667																																						ENST00000367029.4																			0				large_intestine(2)	2						c.(148-150)ttC>ttT		G0/G1switch 2							21.0	21.0	21.0					1																	209849179		2200	4294	6494	SO:0001819	synonymous_variant	50486				cell cycle			g.chr1:209849179C>T		CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"""putative lymphocyte G0/G1 switch gene"""	614447	"""G0/G1switch 2"""			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.150C>T	1.37:g.209849179C>T						RP1-28O10.1_ENST00000441672.1_RNA	p.F50F	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.041)	2	312	+			50					Q6FGC8	Silent	SNP	ENST00000367029.4	37	c.150C>T	CCDS1488.1																																																																																				0.667	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088732.1	NM_015714		5	15	0	0	0	1	0	5	15				
TAPBP	6892	broad.mit.edu	37	6	33271721	33271721	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:33271721G>A	ENST00000426633.2	-	7	1516	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000456592.2_Intron|TAPBP_ENST00000434618.2_Intron|TAPBP_ENST00000475304.1_Intron	NM_172208.2	NP_757345.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	0					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CAGAGAGGTGGAGCACTGTAC	0.517																																						ENST00000426633.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(1345-1347)tCc>tTc		TAP binding protein (tapasin)							126.0	115.0	119.0					6																	33271721		2203	4300	6503	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33271721G>A	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000426633.2:c.1346C>T	6.37:g.33271721G>A	ENSP00000404833:p.Ser449Phe					TAPBP_ENST00000456592.2_Intron|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000434618.2_Intron|TAPBP_ENST00000475304.1_Intron	p.S449F	NM_172208.2	NP_757345.2	O15533	TPSN_HUMAN			7	1516	-			0					A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000426633.2	37	c.1346C>T	CCDS34428.2	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088897	0.36855	.	.	ENSG00000231925	ENST00000426633	T	0.35236	1.32	3.67	-1.53	0.08611	.	3.091520	0.01805	U	0.033110	T	0.09862	0.0242	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28681	-1.0036	9	0.72032	D	0.01	1.0873	3.5319	0.07779	0.4264:0.0:0.398:0.1756	.	449	O15533-3	.	F	449	ENSP00000404833:S449F	ENSP00000404833:S449F	S	-	2	0	TAPBP	33379699	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.289000	0.08365	-0.340000	0.08388	-0.534000	0.04291	TCC		0.517	TAPBP-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276427.2			9	88	0	0	0	1	0	9	88				
SPATA31D5P	347127	broad.mit.edu	37	9	84532182	84532182	+	RNA	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:84532182G>C	ENST00000527857.1	+	0	2204					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CAAAATTTCAGAGCTATCTGT	0.488																																						ENST00000527857.1																			0																																																			347127							g.chr9:84532182G>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532182G>C								NR_026851.1						0	2204	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.488	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	47	0	0	0	1	0	4	47				
TIMM21	29090	broad.mit.edu	37	18	71816318	71816318	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:71816318G>T	ENST00000169551.6	+	1	573	c.275G>T	c.(274-276)gGa>gTa	p.G92V	FBXO15_ENST00000419743.2_5'Flank|FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Missense_Mutation_p.G92V	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	92					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											CAGAGAGGGGGAACCGCCGTC	0.502																																						ENST00000580087.1																			0											c.(274-276)gGa>gTa		translocase of inner mitochondrial membrane 21 homolog (yeast)							59.0	60.0	60.0					18																	71816318		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816318G>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.275G>T	18.37:g.71816318G>T	ENSP00000169551:p.Gly92Val					TIMM21_ENST00000169551.6_Missense_Mutation_p.G92V	p.G92V			Q9BVV7	TI21L_HUMAN			1	561	+			92					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.275G>T	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	3.496	-0.102932	0.06967	.	.	ENSG00000075336	ENST00000169551	T	0.46063	0.88	4.75	1.08	0.20341	.	0.598600	0.17052	N	0.188881	T	0.25644	0.0624	L	0.38175	1.15	0.09310	N	0.999999	B	0.31125	0.309	B	0.21917	0.037	T	0.10730	-1.0617	10	0.27082	T	0.32	-2.0351	7.0564	0.25102	0.7097:0.0:0.2903:0.0	.	92	Q9BVV7	TI21L_HUMAN	V	92	ENSP00000169551:G92V	ENSP00000169551:G92V	G	+	2	0	C18orf55	69967298	0.015000	0.18098	0.007000	0.13788	0.066000	0.16364	0.618000	0.24373	0.345000	0.23873	-0.302000	0.09304	GGA		0.502	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		11	78	1	0	1.58986e-06	1	1.63465e-06	11	78				
RAD52	5893	broad.mit.edu	37	12	1036313	1036313	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:1036313G>T	ENST00000358495.3	-	6	603	c.465C>A	c.(463-465)ctC>ctA	p.L155L	RAD52_ENST00000536177.1_Silent_p.L155L|RAD52_ENST00000539046.1_Silent_p.L78L|RAD52_ENST00000430095.2_Silent_p.L155L|RAD52_ENST00000545564.1_Silent_p.L155L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	155					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GCGCTCACCTGAGGGCTCGCT	0.512								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(463-465)ctC>ctA	Homologous recombination	RAD52 homolog (S. cerevisiae)							112.0	119.0	117.0					12																	1036313		2203	4300	6503	SO:0001819	synonymous_variant	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1036313G>T		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.465C>A	12.37:g.1036313G>T						RAD52_ENST00000539046.1_Silent_p.L78L|RAD52_ENST00000536177.1_Silent_p.L155L|RAD52_ENST00000430095.2_Silent_p.L155L|RAD52_ENST00000545564.1_Silent_p.L155L	p.L155L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		6	603	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		155					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	c.465C>A	CCDS8507.2																																																																																				0.512	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		23	195	1	0	6.32553e-13	1	6.62819e-13	23	195				
SIPA1L3	23094	broad.mit.edu	37	19	38572705	38572705	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:38572705G>A	ENST00000222345.6	+	3	1009	c.500G>A	c.(499-501)cGg>cAg	p.R167Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	167					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCCCCTTCGGCACCGCAGC	0.721																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(499-501)cGg>cAg		signal-induced proliferation-associated 1 like 3							44.0	53.0	50.0					19																	38572705		2203	4299	6502	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572705G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.500G>A	19.37:g.38572705G>A	ENSP00000222345:p.Arg167Gln						p.R167Q	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1009	+			167					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.500G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677794	0.88445	.	.	ENSG00000105738	ENST00000222345	D	0.82803	-1.65	5.22	4.19	0.49359	.	0.064507	0.64402	N	0.000008	D	0.86108	0.5854	L	0.36672	1.1	0.46774	D	0.999199	D	0.89917	1.0	D	0.91635	0.999	D	0.86571	0.1847	10	0.59425	D	0.04	-17.303	12.6932	0.56988	0.0813:0.0:0.9187:0.0	.	167	O60292	SI1L3_HUMAN	Q	167	ENSP00000222345:R167Q	ENSP00000222345:R167Q	R	+	2	0	SIPA1L3	43264545	0.969000	0.33509	0.933000	0.37362	0.964000	0.63967	5.563000	0.67352	1.206000	0.43276	-0.253000	0.11424	CGG		0.721	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		27	122	0	0	0	1	0	27	122				
PLCE1	51196	broad.mit.edu	37	10	96006028	96006028	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:96006028G>A	ENST00000371380.3	+	7	2981	c.2746G>A	c.(2746-2748)Gag>Aag	p.E916K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E608K|PLCE1_ENST00000260766.3_Missense_Mutation_p.E916K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E608K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	916					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACACAGCTGAGCCTGGAAA	0.507																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2746-2748)Gag>Aag		phospholipase C, epsilon 1							62.0	67.0	65.0					10																	96006028		1949	4136	6085	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96006028G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2746G>A	10.37:g.96006028G>A	ENSP00000360431:p.Glu916Lys					PLCE1_ENST00000371380.2_Missense_Mutation_p.E916K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E608K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E608K	p.E916K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			8	3380	+		Colorectal(252;0.0458)	916					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2746G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312851	0.81358	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	6.04	6.04	0.98038	.	0.099912	0.44483	D	0.000453	T	0.36496	0.0969	L	0.47716	1.5	0.39252	D	0.964052	P;P;P	0.48911	0.835;0.897;0.917	B;B;B	0.44278	0.272;0.385;0.445	T	0.06607	-1.0817	10	0.44086	T	0.13	.	20.6524	0.99598	0.0:0.0:1.0:0.0	.	916;608;916	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	K	916;916;608;608	ENSP00000260766:E916K;ENSP00000360431:E916K;ENSP00000360438:E608K;ENSP00000360426:E608K	ENSP00000260766:E916K	E	+	1	0	PLCE1	95996018	1.000000	0.71417	0.963000	0.40424	0.928000	0.56348	6.006000	0.70724	2.890000	0.99128	0.585000	0.79938	GAG		0.507	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		18	81	0	0	0	1	0	18	81				
BBS5	129880	broad.mit.edu	37	2	170344504	170344504	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:170344504G>A	ENST00000295240.3	+	5	642	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R89Q|BBS5_ENST00000554017.1_Missense_Mutation_p.R89Q|BBS5_ENST00000392663.2_Missense_Mutation_p.R89Q	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	89					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R89Q(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGAAATTACGAGGCCAAACT	0.294									Bardet-Biedl syndrome																													ENST00000295240.3																			1	Substitution - Missense(1)	p.R89Q(1)	upper_aerodigestive_tract(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(265-267)cGa>cAa		Bardet-Biedl syndrome 5							65.0	72.0	70.0					2																	170344504		2201	4297	6498	SO:0001583	missense	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170344504G>A	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.266G>A	2.37:g.170344504G>A	ENSP00000295240:p.Arg89Gln					BBS5_ENST00000554017.1_Missense_Mutation_p.R89Q|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R89Q|BBS5_ENST00000392663.2_Missense_Mutation_p.R89Q	p.R89Q	NM_152384.2	NP_689597.1					5	642	+								D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.266G>A	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306817	0.95629	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.67	4.79	0.61399	.	0.050900	0.85682	N	0.000000	D	0.86732	0.6003	M	0.84683	2.71	0.80722	D	1	P;D;D	0.89917	0.949;1.0;1.0	B;D;D	0.72625	0.301;0.963;0.978	D	0.88468	0.3060	10	0.59425	D	0.04	-4.8595	14.4186	0.67168	0.0706:0.0:0.9294:0.0	.	89;89;89	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	Q	89	ENSP00000295240:R89Q;ENSP00000452313:R89Q;ENSP00000376431:R89Q;ENSP00000424363:R89Q	ENSP00000295240:R89Q	R	+	2	0	BBS5;RP11-724O16.1	170052750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.029000	0.88807	1.405000	0.46838	0.655000	0.94253	CGA		0.294	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		13	133	0	0	0	1	0	13	133				
SLC12A3	6559	broad.mit.edu	37	16	56916369	56916369	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56916369C>T	ENST00000563236.1	+	13	1654	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	SLC12A3_ENST00000566786.1_Silent_p.I542I|SLC12A3_ENST00000438926.2_Silent_p.I543I|SLC12A3_ENST00000262502.5_Silent_p.I542I			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	543					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATGCCCTCATCAACTTCAGCT	0.597																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1627-1629)atC>atT		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						244.0	197.0	213.0					16																	56916369		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56916369C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1629C>T	16.37:g.56916369C>T						SLC12A3_ENST00000563236.1_Silent_p.I543I|SLC12A3_ENST00000566786.1_Silent_p.I542I|SLC12A3_ENST00000262502.5_Silent_p.I542I	p.I543I	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			13	1658	+			543					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.1629C>T	CCDS58464.1																																																																																				0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			21	153	0	0	0	1	0	21	153				
GUSBP1	728411	broad.mit.edu	37	5	21491520	21491520	+	RNA	SNP	A	A	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:21491520A>G	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GTCGTGGACAACCAGGCTGGG	0.552																																						ENST00000607545.1																			0																																																			728411							g.chr5:21491520A>G	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491520A>G								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.552	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		4	121	0	0	0	1	0	4	121				
NCBP1	4686	broad.mit.edu	37	9	100413653	100413653	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:100413653G>A	ENST00000375147.3	+	10	1313	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	353					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CCACATAGTTGAGGTATGAAT	0.338																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(1057-1059)Gag>Aag		nuclear cap binding protein subunit 1, 80kDa							135.0	123.0	127.0					9																	100413653		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100413653G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1057G>A	9.37:g.100413653G>A	ENSP00000364289:p.Glu353Lys						p.E353K	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			10	1313	+		Acute lymphoblastic leukemia(62;0.158)	353					B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.1057G>A	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699859	0.96802	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.6	5.6	0.85130	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.87208	0.6120	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89568	0.3811	9	0.72032	D	0.01	-22.8097	19.5961	0.95538	0.0:0.0:1.0:0.0	.	353	Q09161	NCBP1_HUMAN	K	353	.	ENSP00000364289:E353K	E	+	1	0	NCBP1	99453474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.844000	0.92147	2.818000	0.97014	0.591000	0.81541	GAG		0.338	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		7	58	0	0	0	1	0	7	58				
SPTBN4	57731	broad.mit.edu	37	19	41008819	41008819	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:41008819G>C	ENST00000352632.3	+	11	1427	c.1341G>C	c.(1339-1341)gaG>gaC	p.E447D	SPTBN4_ENST00000338932.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E447D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E447D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	447					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCTGAATGAGAACCAGCGTC	0.597																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1339-1341)gaG>gaC		spectrin, beta, non-erythrocytic 4							86.0	87.0	87.0					19																	41008819		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008819G>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1341G>C	19.37:g.41008819G>C	ENSP00000263373:p.Glu447Asp					SPTBN4_ENST00000344104.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E447D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E447D	p.E447D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		11	1427	+			447					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1341G>C	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983616	0.74474	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54071	0.59;0.59;0.59	4.35	4.35	0.52113	.	0.000000	0.64402	U	0.000009	T	0.58708	0.2141	N	0.21617	0.685	0.80722	D	1	D;P	0.65815	0.995;0.624	D;P	0.80764	0.994;0.613	T	0.59820	-0.7382	10	0.39692	T	0.17	.	15.7894	0.78343	0.0:0.0:1.0:0.0	.	447;447	Q9H254;Q71S06	SPTN4_HUMAN;.	D	447	ENSP00000263373:E447D;ENSP00000340345:E447D;ENSP00000340741:E447D	ENSP00000340345:E447D	E	+	3	2	SPTBN4	45700659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.250000	0.74265	0.563000	0.77884	GAG		0.597	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			19	133	0	0	0	1	0	19	133				
USH2A	7399	broad.mit.edu	37	1	215963552	215963552	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:215963552G>C	ENST00000307340.3	-	51	10417	c.10031C>G	c.(10030-10032)tCt>tGt	p.S3344C	USH2A_ENST00000366943.2_Missense_Mutation_p.S3344C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3344					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGTGCTTTAGACTCTCCACT	0.378										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10030-10032)tCt>tGt		Usher syndrome 2A (autosomal recessive, mild)							125.0	119.0	121.0					1																	215963552		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963552G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10031C>G	1.37:g.215963552G>C	ENSP00000305941:p.Ser3344Cys	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S3344C	p.S3344C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10417	-			3344					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10031C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898273	0.72639	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.57;2.56	5.91	5.91	0.95273	Fibronectin, type III (2);	0.000000	0.44688	D	0.000424	T	0.36303	0.0962	M	0.73962	2.25	0.48185	D	0.999605	D	0.89917	1.0	D	0.68192	0.956	T	0.03443	-1.1036	10	0.66056	D	0.02	.	13.4829	0.61348	0.0708:0.0:0.9291:0.0	.	3344	O75445	USH2A_HUMAN	C	3344	ENSP00000305941:S3344C;ENSP00000355910:S3344C	ENSP00000305941:S3344C	S	-	2	0	USH2A	214030175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.793000	0.96121	0.655000	0.94253	TCT		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	86	0	0	0	1	0	19	86				
C4orf50	389197	broad.mit.edu	37	4	5981936	5981936	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:5981936C>T	ENST00000324058.5	-	2	222	c.133G>A	c.(133-135)Gag>Aag	p.E45K	C4orf50_ENST00000531445.1_Missense_Mutation_p.E519K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	45										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CGGGTGGCCTCGTCCAGAGAC	0.682																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1555-1557)Gag>Aag		chromosome 4 open reading frame 50							21.0	21.0	21.0					4																	5981936		2201	4290	6491	SO:0001583	missense	389197							g.chr4:5981936C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.133G>A	4.37:g.5981936C>T	ENSP00000317287:p.Glu45Lys					C4orf50_ENST00000324058.5_Missense_Mutation_p.E45K	p.E519K			Q6ZRC1	CD050_HUMAN			2	1601	-			45						Missense_Mutation	SNP	ENST00000324058.5	37	c.1555G>A		.	.	.	.	.	.	.	.	.	.	C	12.06	1.825520	0.32237	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.36340	1.26;1.26	3.45	-0.594	0.11664	.	1.233450	0.06407	N	0.719870	T	0.34366	0.0895	M	0.67953	2.075	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.38415	-0.9662	10	0.66056	D	0.02	-3.9617	4.5477	0.12088	0.0:0.3776:0.3948:0.2276	.	45	Q6ZRC1	CD050_HUMAN	K	519;45	ENSP00000437121:E519K;ENSP00000317287:E45K	ENSP00000317287:E45K	E	-	1	0	C4orf50	6032837	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.116000	0.10724	-0.316000	0.08690	-0.955000	0.02649	GAG		0.682	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		5	33	0	0	0	1	0	5	33				
HADHA	3030	broad.mit.edu	37	2	26427038	26427038	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:26427038C>G	ENST00000380649.3	-	12	1242	c.1113G>C	c.(1111-1113)ctG>ctC	p.L371L		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	371					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTCCCATCAGCCCTGCAC	0.483																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(1111-1113)ctG>ctC		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						256.0	246.0	249.0					2																	26427038		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26427038C>G	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1113G>C	2.37:g.26427038C>G							p.L371L	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			12	1242	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		371					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.1113G>C	CCDS1721.1																																																																																				0.483	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		21	332	0	0	0	1	0	21	332				
IKZF2	22807	broad.mit.edu	37	2	213921665	213921665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:213921665G>A	ENST00000434687.1	-	5	607	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.Q106*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000413091.3_Nonsense_Mutation_p.Q100*			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	100					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCCTCGCCTTGAAGCTCCTGG	0.517																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(298-300)Caa>Taa		IKAROS family zinc finger 2 (Helios)							136.0	120.0	125.0					2																	213921665		2203	4300	6503	SO:0001587	stop_gained	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921665G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.298C>T	2.37:g.213921665G>A	ENSP00000412869:p.Gln100*					IKZF2_ENST00000413091.3_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.Q106*|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.Q100*	p.Q100*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	466	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	100					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Nonsense_Mutation	SNP	ENST00000434687.1	37	c.298C>T	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976015	0.74360	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091;ENST00000433134	.	.	.	6.02	6.02	0.97574	.	0.192467	0.35378	N	0.003253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-1.9015	7.1057	0.25362	0.1066:0.1716:0.7218:0.0	.	.	.	.	X	100;106;100;100;100;100;100;106	.	ENSP00000342876:Q106X	Q	-	1	0	IKZF2	213629910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.644000	0.46613	2.857000	0.98124	0.650000	0.86243	CAA		0.517	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		17	71	0	0	0	1	0	17	71				
IMPACT	55364	broad.mit.edu	37	18	22020483	22020483	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:22020483G>A	ENST00000284202.4	+	6	532	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	131					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GAAGAAAACTGAAGAGGAAGA	0.373																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(391-393)Gaa>Aaa		impact RWD domain protein							141.0	131.0	134.0					18																	22020483		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22020483G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.391G>A	18.37:g.22020483G>A	ENSP00000284202:p.Glu131Lys						p.E131K	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			6	532	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		131					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.391G>A	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105083	0.37145	.	.	ENSG00000154059	ENST00000284202	T	0.31769	1.48	4.82	3.95	0.45737	.	0.177483	0.47852	N	0.000205	T	0.28896	0.0717	M	0.69823	2.125	0.41031	D	0.985158	B	0.23316	0.083	B	0.17433	0.018	T	0.07177	-1.0786	10	0.17369	T	0.5	.	8.9137	0.35568	0.1042:0.0:0.8958:0.0	.	131	Q9P2X3	IMPCT_HUMAN	K	131	ENSP00000284202:E131K	ENSP00000284202:E131K	E	+	1	0	IMPACT	20274481	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.824000	0.48088	1.007000	0.39238	0.563000	0.77884	GAA		0.373	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		19	93	0	0	0	1	0	19	93				
SZT2	23334	broad.mit.edu	37	1	43895410	43895410	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:43895410G>C	ENST00000562955.1	+	28	4032	c.4032G>C	c.(4030-4032)caG>caC	p.Q1344H	SZT2_ENST00000372442.1_Missense_Mutation_p.Q502H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1401					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGAGTTTCAGAGCACCCGTG	0.547																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4030-4032)caG>caC		seizure threshold 2 homolog (mouse)							96.0	91.0	93.0					1																	43895410		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43895410G>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4032G>C	1.37:g.43895410G>C	ENSP00000457168:p.Gln1344His					SZT2_ENST00000372442.1_Missense_Mutation_p.Q502H	p.Q1344H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			28	4032	+			1401					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4032G>C	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468740	0.43839	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.57	2.67	0.31697	.	0.445400	0.22822	N	0.055216	T	0.25717	0.0626	N	0.22421	0.69	0.21064	N	0.999794	B	0.14012	0.009	B	0.14578	0.011	T	0.14811	-1.0459	9	0.52906	T	0.07	.	6.4889	0.22105	0.2147:0.1395:0.6458:0.0	.	1344	Q5T011-5	.	H	502	.	ENSP00000361519:Q502H	Q	+	3	2	SZT2	43667997	0.962000	0.33011	1.000000	0.80357	0.892000	0.51952	0.490000	0.22403	1.357000	0.45904	-0.258000	0.10820	CAG		0.547	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		13	90	0	0	0	1	0	13	90				
XPO6	23214	broad.mit.edu	37	16	28143700	28143700	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:28143700C>G	ENST00000304658.5	-	12	2061	c.1561G>C	c.(1561-1563)Gaa>Caa	p.E521Q	XPO6_ENST00000565698.1_Missense_Mutation_p.E507Q	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	521					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAATAAACTTCTAAATTGTCC	0.299																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1561-1563)Gaa>Caa		exportin 6							44.0	38.0	40.0					16																	28143700		1819	4066	5885	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28143700C>G	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1561G>C	16.37:g.28143700C>G	ENSP00000302790:p.Glu521Gln					XPO6_ENST00000565698.1_Missense_Mutation_p.E507Q	p.E521Q	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			12	2061	-			521					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1561G>C	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094071	0.36952	.	.	ENSG00000169180	ENST00000304658	T	0.65178	-0.14	5.26	4.31	0.51392	Armadillo-like helical (1);Armadillo-type fold (1);	0.169318	0.52532	D	0.000062	T	0.37293	0.0998	N	0.08118	0	0.46336	D	0.998992	B;B	0.16396	0.013;0.017	B;B	0.14023	0.01;0.006	T	0.13737	-1.0498	10	0.13853	T	0.58	-4.6453	9.9814	0.41815	0.0:0.9056:0.0:0.0944	.	521;521	B7ZM10;Q96QU8	.;XPO6_HUMAN	Q	521	ENSP00000302790:E521Q	ENSP00000302790:E521Q	E	-	1	0	XPO6	28051201	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.365000	0.66116	1.190000	0.43042	0.563000	0.77884	GAA		0.299	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		6	16	0	0	0	1	0	6	16				
C5orf51	285636	broad.mit.edu	37	5	41911179	41911179	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:41911179G>T	ENST00000381647.2	+	4	403	c.384G>T	c.(382-384)ctG>ctT	p.L128L	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	128										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGAGCTACTGGAATGTCTCT	0.378																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(382-384)ctG>ctT		chromosome 5 open reading frame 51							117.0	115.0	116.0					5																	41911179		2203	4300	6503	SO:0001819	synonymous_variant	285636							g.chr5:41911179G>T	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.384G>T	5.37:g.41911179G>T						C5orf51_ENST00000505931.2_3'UTR	p.L128L	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			4	403	+			128					A2RRM9	Silent	SNP	ENST00000381647.2	37	c.384G>T	CCDS34151.1																																																																																				0.378	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		8	37	1	0	1.06961e-07	1	1.10754e-07	8	37				
CTNNBL1	56259	broad.mit.edu	37	20	36407619	36407619	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:36407619G>A	ENST00000361383.6	+	10	1030	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CTNNBL1_ENST00000405275.2_Missense_Mutation_p.E278K|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E118K|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E53K	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	305					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGCACGGCTGAGGAGCAGGA	0.473																																					Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.(832-834)Gag>Aag		catenin, beta like 1							134.0	112.0	119.0					20																	36407619		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36407619G>A	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.913G>A	20.37:g.36407619G>A	ENSP00000355050:p.Glu305Lys					CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E118K|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E53K|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.E305K	p.E278K			Q8WYA6	CTBL1_HUMAN			11	1075	+		Myeloproliferative disorder(115;0.00878)	305					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.832G>A	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297301	0.95574	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.52057	0.76;0.76;0.68;0.68	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.83312	2.635	0.80722	D	1	P;D	0.61080	0.945;0.989	P;P	0.56563	0.689;0.801	T	0.72286	-0.4338	10	0.59425	D	0.04	-21.2534	17.562	0.87910	0.0:0.0:1.0:0.0	.	305;118	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	K	305;278;118;53	ENSP00000355050:E305K;ENSP00000384355:E278K;ENSP00000362572:E118K;ENSP00000362568:E53K	ENSP00000355050:E305K	E	+	1	0	CTNNBL1	35841033	1.000000	0.71417	0.978000	0.43139	0.829000	0.46940	9.633000	0.98432	2.619000	0.88677	0.561000	0.74099	GAG		0.473	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		11	52	0	0	0	1	0	11	52				
MAPK4	5596	broad.mit.edu	37	18	48252439	48252439	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:48252439G>A	ENST00000400384.2	+	5	1997	c.961G>A	c.(961-963)Gag>Aag	p.E321K	MAPK4_ENST00000540640.1_Missense_Mutation_p.E110K|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	321					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCCTGAGGACGAGCCCACCTC	0.572																																						ENST00000400384.2																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(961-963)Gag>Aag		mitogen-activated protein kinase 4							115.0	119.0	117.0					18																	48252439		2119	4226	6345	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252439G>A	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.961G>A	18.37:g.48252439G>A	ENSP00000383234:p.Glu321Lys					MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E110K	p.E321K	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	5	1997	+		Colorectal(6;0.0297)	321					A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.961G>A	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301759	0.81136	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.74209	-0.82;0.87	4.75	4.75	0.60458	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000014	D	0.83408	0.5248	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.64776	0.929	D	0.85784	0.1363	10	0.87932	D	0	-15.1644	16.5392	0.84381	0.0:0.0:1.0:0.0	.	321	P31152	MK04_HUMAN	K	321;110	ENSP00000383234:E321K;ENSP00000439231:E110K	ENSP00000383234:E321K	E	+	1	0	MAPK4	46506437	1.000000	0.71417	0.965000	0.40720	0.245000	0.25701	9.843000	0.99491	2.208000	0.71279	0.655000	0.94253	GAG		0.572	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		5	136	0	0	0	1	0	5	136				
TBX1	6899	broad.mit.edu	37	22	19766861	19766861	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:19766861C>T	ENST00000329705.7	+	9	1257	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	376					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TCCCCTGCCCCGCAGAGTGCC	0.597																																						ENST00000329705.7																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(1126-1128)ccC>ccT		T-box 1							73.0	68.0	70.0					22																	19766861		2203	4300	6503	SO:0001819	synonymous_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19766861C>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1128C>T	22.37:g.19766861C>T						TBX1_ENST00000359500.3_Intron	p.P376P	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN			9	1257	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	376					C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	ENST00000329705.7	37	c.1128C>T	CCDS13766.1																																																																																				0.597	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		7	82	0	0	0	1	0	7	82				
COPB1	1315	broad.mit.edu	37	11	14496058	14496058	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:14496058C>T	ENST00000249923.3	-	14	2020	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.E574K	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	574					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTTTTCTTCTCCTGAACCAAA	0.388																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1720-1722)Gag>Aag		coatomer protein complex, subunit beta 1							106.0	104.0	105.0					11																	14496058		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14496058C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1720G>A	11.37:g.14496058C>T	ENSP00000249923:p.Glu574Lys					COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.E574K	p.E574K	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			14	2020	-			574					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1720G>A	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340185	0.81911	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.13307	2.6;2.6	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.042532	0.85682	D	0.000000	T	0.10680	0.0261	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23013	-1.0200	10	0.44086	T	0.13	-2.0618	20.5666	0.99351	0.0:1.0:0.0:0.0	.	574	P53618	COPB_HUMAN	K	574	ENSP00000249923:E574K;ENSP00000397873:E574K	ENSP00000249923:E574K	E	-	1	0	COPB1	14452634	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.605000	0.82844	2.854000	0.98071	0.655000	0.94253	GAG		0.388	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		13	141	0	0	0	1	0	13	141				
C2orf80	389073	broad.mit.edu	37	2	209036779	209036779	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:209036779G>A	ENST00000341287.4	-	7	582	c.387C>T	c.(385-387)ctC>ctT	p.L129L	C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Silent_p.L110L	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	129										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						AGGAGAGGCAGAGAGATGAAA	0.488																																						ENST00000341287.4																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(385-387)ctC>ctT		chromosome 2 open reading frame 80							196.0	203.0	201.0					2																	209036779		1947	4157	6104	SO:0001819	synonymous_variant	389073							g.chr2:209036779G>A	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.387C>T	2.37:g.209036779G>A						C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Silent_p.L110L	p.L129L	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN			7	582	-			129					A6NKZ3	Silent	SNP	ENST00000341287.4	37	c.387C>T	CCDS42809.1																																																																																				0.488	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		41	224	0	0	0	1	0	41	224				
ORC1	4998	broad.mit.edu	37	1	52859253	52859253	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:52859253C>T	ENST00000371568.3	-	6	1162	c.944G>A	c.(943-945)cGc>cAc	p.R315H	ORC1_ENST00000371566.1_Missense_Mutation_p.R315H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	315					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R315H(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGGATTATGCGATGTTCAGG	0.468																																						ENST00000371568.3																			1	Substitution - Missense(1)	p.R315H(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(943-945)cGc>cAc		origin recognition complex, subunit 1							210.0	190.0	197.0					1																	52859253		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52859253C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.944G>A	1.37:g.52859253C>T	ENSP00000360623:p.Arg315His					ORC1_ENST00000371566.1_Missense_Mutation_p.R315H	p.R315H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			6	1162	-			315					D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.944G>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230125	0.22542	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.42131	0.98;0.98	4.12	-4.68	0.03309	.	2.624730	0.00644	N	0.000533	T	0.19525	0.0469	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17440	-1.0369	10	0.42905	T	0.14	6.0687	5.953	0.19257	0.0:0.4234:0.3045:0.2721	.	315;315	B7Z8H0;Q13415	.;ORC1_HUMAN	H	315	ENSP00000360623:R315H;ENSP00000360621:R315H	ENSP00000360621:R315H	R	-	2	0	ORC1	52631841	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.800000	0.04555	-0.945000	0.03681	-0.302000	0.09304	CGC		0.468	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		4	197	0	0	0	1	0	4	197				
HBQ1	3049	broad.mit.edu	37	16	231027	231027	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:231027G>A	ENST00000199708.2	+	3	383	c.349G>A	c.(349-351)Gac>Aac	p.D117N	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	117					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTACCCCGGAGACTTCAGCCC	0.701																																						ENST00000199708.2																			0				large_intestine(1)	1						c.(349-351)Gac>Aac		hemoglobin, theta 1							30.0	35.0	33.0					16																	231027		2203	4300	6503	SO:0001583	missense	3049					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:231027G>A	BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.349G>A	16.37:g.231027G>A	ENSP00000199708:p.Asp117Asn						p.D117N	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN			3	383	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	117					Q13723|Q1W6G5	Missense_Mutation	SNP	ENST00000199708.2	37	c.349G>A	CCDS10400.1	.	.	.	.	.	.	.	.	.	.	g	11.51	1.659354	0.29515	.	.	ENSG00000086506	ENST00000199708	D	0.94184	-3.37	3.83	1.61	0.23674	Globin-like (1);Globin, structural domain (1);	0.227243	0.43416	D	0.000574	D	0.90089	0.6904	M	0.70108	2.13	0.09310	N	0.999994	B	0.20780	0.048	B	0.20767	0.031	D	0.83678	0.0170	10	0.87932	D	0	-34.1677	5.0042	0.14280	0.0989:0.1468:0.6048:0.1495	.	117	P09105	HBAT_HUMAN	N	117	ENSP00000199708:D117N	ENSP00000199708:D117N	D	+	1	0	HBQ1	171027	0.094000	0.21725	0.853000	0.33588	0.969000	0.65631	1.191000	0.32138	0.798000	0.33994	0.486000	0.48141	GAC		0.701	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134226.1	NM_005331		6	64	0	0	0	1	0	6	64				
DMD	1756	broad.mit.edu	37	X	31279123	31279123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:31279123G>A	ENST00000357033.4	-	63	9441	c.9235C>T	c.(9235-9237)Caa>Taa	p.Q3079*	DMD_ENST00000378680.2_Nonsense_Mutation_p.Q11*|DMD_ENST00000378707.3_Nonsense_Mutation_p.Q619*|DMD_ENST00000474231.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378702.4_Nonsense_Mutation_p.Q11*|DMD_ENST00000343523.2_Nonsense_Mutation_p.Q619*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q3075*|DMD_ENST00000359836.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000361471.4_Nonsense_Mutation_p.Q11*|DMD_ENST00000541735.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378723.3_Nonsense_Mutation_p.Q11*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3079	Interaction with SYNM. {ECO:0000250}.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAAGTTGTTTGAGTCTCGTGG	0.378																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(9235-9237)Caa>Taa		dystrophin							126.0	97.0	107.0					X																	31279123		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31279123G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9235C>T	X.37:g.31279123G>A	ENSP00000354923:p.Gln3079*					DMD_ENST00000378707.3_Nonsense_Mutation_p.Q619*|DMD_ENST00000359836.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000541735.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378702.4_Nonsense_Mutation_p.Q11*|DMD_ENST00000378680.2_Nonsense_Mutation_p.Q11*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q3075*|DMD_ENST00000343523.2_Nonsense_Mutation_p.Q619*|DMD_ENST00000474231.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378723.3_Nonsense_Mutation_p.Q11*|DMD_ENST00000361471.4_Nonsense_Mutation_p.Q11*	p.Q3079*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			63	9441	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3079			Interaction with SYNM (By similarity).|WW.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.9235C>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	20.956781|20.956781	0.99936|0.99936	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.32563|.	U|.	0.005932|.	.|T	.|0.74253	.|0.3692	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72367	.|-0.4315	.|3	0.37606|.	T|.	0.19|.	.|.	17.5602|17.5602	0.87903|0.87903	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	3071;1738;1735;11;775;3075;3079;619;619;3079;2956;619;619;11;619;11;11|807	.|.	ENSP00000340057:Q619X|.	Q|S	-|-	1|2	0|0	DMD|DMD	31189044|31189044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.325000|8.325000	0.90007|0.90007	2.618000|2.618000	0.88619|0.88619	0.600000|0.600000	0.82982|0.82982	CAA|TCA		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	32	0	0	0	1	0	6	32				
DUSP16	80824	broad.mit.edu	37	12	12653598	12653598	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:12653598G>C	ENST00000228862.2	-	4	1017	c.386C>G	c.(385-387)tCt>tGt	p.S129C	DUSP16_ENST00000298573.4_Intron|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	129	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GAAACAACGAGAGAACTCAGC	0.413																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(385-387)tCt>tGt		dual specificity phosphatase 16							69.0	64.0	66.0					12																	12653598		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12653598G>C	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.386C>G	12.37:g.12653598G>C	ENSP00000228862:p.Ser129Cys					DUSP16_ENST00000298573.4_Intron|DUSP16_ENST00000545864.1_5'UTR	p.S129C	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	4	1017	-		Prostate(47;0.0687)	129			Rhodanese.		Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.386C>G	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658790	0.88154	.	.	ENSG00000111266	ENST00000228862	T	0.26957	1.7	5.35	5.35	0.76521	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.71036	2.16	0.80722	D	1	D	0.64830	0.994	P	0.54460	0.753	T	0.47497	-0.9113	10	0.87932	D	0	.	19.4169	0.94704	0.0:0.0:1.0:0.0	.	129	Q9BY84	DUS16_HUMAN	C	129	ENSP00000228862:S129C	ENSP00000228862:S129C	S	-	2	0	DUSP16	12544865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.019000	0.93662	2.665000	0.90641	0.551000	0.68910	TCT		0.413	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		6	47	0	0	0	1	0	6	47				
STAT6	6778	broad.mit.edu	37	12	57496615	57496615	+	Missense_Mutation	SNP	C	C	G	rs11172101	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:57496615C>G	ENST00000300134.3	-	12	1627	c.1302G>C	c.(1300-1302)gaG>gaC	p.E434D	STAT6_ENST00000537215.2_Missense_Mutation_p.E324D|STAT6_ENST00000538913.2_Missense_Mutation_p.E324D|STAT6_ENST00000454075.3_Missense_Mutation_p.E434D|STAT6_ENST00000543873.2_Missense_Mutation_p.E434D|STAT6_ENST00000556155.1_Missense_Mutation_p.E434D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	434					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCCTCACCATCTCAGAGAAGG	0.562																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1300-1302)gaG>gaC		signal transducer and activator of transcription 6, interleukin-4 induced							136.0	104.0	115.0					12																	57496615		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57496615C>G	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1302G>C	12.37:g.57496615C>G	ENSP00000300134:p.Glu434Asp					STAT6_ENST00000556155.1_Missense_Mutation_p.E434D|STAT6_ENST00000454075.3_Missense_Mutation_p.E434D|STAT6_ENST00000537215.2_Missense_Mutation_p.E324D|STAT6_ENST00000543873.2_Missense_Mutation_p.E434D|STAT6_ENST00000538913.2_Missense_Mutation_p.E324D	p.E434D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			12	1627	-			434					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1302G>C	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.93|15.93	2.979591|2.979591	0.53827|0.53827	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000553533|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	.|D;D;D;D;D;D	.|0.88509	.|-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.44|5.44	3.62|3.62	0.41486|0.41486	.|STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89829|0.89829	0.6828|0.6828	L|L	0.41824|0.41824	1.3|1.3	0.58432|0.58432	D|D	0.999995|0.999995	.|D;P	.|0.76494	.|0.999;0.767	.|D;B	.|0.80764	.|0.994;0.426	D|D	0.87463|0.87463	0.2409|0.2409	5|10	.|0.44086	.|T	.|0.13	-28.4341|-28.4341	7.4884|7.4884	0.27447|0.27447	0.0:0.7428:0.0:0.2572|0.0:0.7428:0.0:0.2572	.|.	.|434;434	.|A8K4S9;P42226	.|.;STAT6_HUMAN	H|D	135|434;324;324;434;434;324;434;324;434	.|ENSP00000300134:E434D;ENSP00000445409:E324D;ENSP00000438451:E434D;ENSP00000451742:E434D;ENSP00000444530:E324D;ENSP00000401486:E434D	.|ENSP00000300134:E434D	D|E	-|-	1|3	0|2	STAT6|STAT6	55782882|55782882	0.373000|0.373000	0.25073|0.25073	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.033000|-0.033000	0.12246|0.12246	0.856000|0.856000	0.35383|0.35383	0.650000|0.650000	0.86243|0.86243	GAT|GAG		0.562	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		5	53	0	0	0	1	0	5	53				
PTPN14	5784	broad.mit.edu	37	1	214543025	214543025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:214543025G>A	ENST00000366956.5	-	17	3240	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1016	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTTTGGTTCGTCCACCCTCC	0.428																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3046-3048)Cga>Tga		protein tyrosine phosphatase, non-receptor type 14							161.0	153.0	156.0					1																	214543025		2203	4300	6503	SO:0001587	stop_gained	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214543025G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3046C>T	1.37:g.214543025G>A	ENSP00000355923:p.Arg1016*					PTPN14_ENST00000543945.1_3'UTR	p.R1016*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	17	3240	-			1016			Tyrosine-protein phosphatase.		Q5VSI0	Nonsense_Mutation	SNP	ENST00000366956.5	37	c.3046C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	42	9.572732	0.99208	.	.	ENSG00000152104	ENST00000366956	.	.	.	5.51	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9252	0.52814	0.0:0.0:0.4058:0.5942	.	.	.	.	X	1016	.	ENSP00000355923:R1016X	R	-	1	2	PTPN14	212609648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.788000	0.38714	1.277000	0.44412	0.650000	0.86243	CGA		0.428	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		38	198	0	0	0	1	0	38	198				
MAST1	22983	broad.mit.edu	37	19	12958754	12958754	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:12958754C>A	ENST00000251472.4	+	7	696	c.657C>A	c.(655-657)ttC>ttA	p.F219L	MAST1_ENST00000591495.1_Missense_Mutation_p.F215L	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGCTCAGCTTCATCCACCACC	0.617											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(655-657)ttC>ttA		microtubule associated serine/threonine kinase 1							57.0	45.0	49.0					19																	12958754		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12958754C>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.657C>A	19.37:g.12958754C>A	ENSP00000251472:p.Phe219Leu		OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_ENST00000591495.1_Missense_Mutation_p.F215L	p.F219L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			7	696	+			219						Missense_Mutation	SNP	ENST00000251472.4	37	c.657C>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842671	0.91197	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.51325	0.71	4.83	-0.676	0.11361	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.127062	0.52532	N	0.000077	T	0.59183	0.2175	M	0.80028	2.48	0.43819	D	0.996381	P;B	0.47191	0.891;0.158	P;B	0.58210	0.835;0.205	T	0.60332	-0.7284	10	0.87932	D	0	-22.6082	7.2781	0.26296	0.0:0.3934:0.0:0.6066	.	219;219	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	L	219	ENSP00000251472:F219L	ENSP00000251472:F219L	F	+	3	2	MAST1	12819754	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.019000	0.30014	0.130000	0.18549	-0.333000	0.08304	TTC		0.617	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		4	23	1	0	0.184627	1	0.184627	4	23				
ARHGEF25	115557	broad.mit.edu	37	12	58008163	58008163	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:58008163G>A	ENST00000286494.4	+	7	1166	c.706G>A	c.(706-708)Gct>Act	p.A236T	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.A275T|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	236	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGATTGGCTGGCTCAGCTATT	0.547																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(706-708)Gct>Act		Rho guanine nucleotide exchange factor (GEF) 25							72.0	78.0	76.0					12																	58008163		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58008163G>A		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.706G>A	12.37:g.58008163G>A	ENSP00000286494:p.Ala236Thr					AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.A275T|AC025165.8_ENST00000444467.1_RNA	p.A236T	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			7	1166	+			236			DH.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.706G>A	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.903263	0.92035	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.69685	-0.42;-0.42	4.96	4.96	0.65561	Dbl homology (DH) domain (5);	0.000000	0.37761	N	0.001946	T	0.79046	0.4380	M	0.78916	2.43	0.80722	D	1	P;P;P	0.51057	0.884;0.819;0.941	P;P;P	0.55391	0.486;0.491;0.775	T	0.82319	-0.0516	10	0.72032	D	0.01	.	17.371	0.87377	0.0:0.0:1.0:0.0	.	275;236;110	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	T	275;110;236	ENSP00000335560:A275T;ENSP00000286494:A236T	ENSP00000286494:A236T	A	+	1	0	ARHGEF25	56294430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.990000	0.93510	2.468000	0.83385	0.563000	0.77884	GCT		0.547	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		15	92	0	0	0	1	0	15	92				
NCOR1	9611	broad.mit.edu	37	17	15983977	15983977	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:15983977G>A	ENST00000268712.3	-	24	3499	c.3242C>T	c.(3241-3243)cCg>cTg	p.P1081L	NCOR1_ENST00000395857.3_5'Flank|NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1081	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P1081L(1)|p.P1081Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCCACTGACGGCTTGGGTGT	0.403																																						ENST00000268712.3																			2	Substitution - Missense(2)	p.P1081L(1)|p.P1081Q(1)	lung(2)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3241-3243)cCg>cTg		nuclear receptor corepressor 1							144.0	131.0	135.0					17																	15983977		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15983977G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3242C>T	17.37:g.15983977G>A	ENSP00000268712:p.Pro1081Leu					NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L	p.P1081L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	24	3499	-			1081			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.3242C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991598	0.93106	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.82526	-1.62;-1.62	6.07	6.07	0.98685	.	0.090329	0.85682	D	0.000000	D	0.86871	0.6037	L	0.50333	1.59	0.80722	D	1	D;D	0.67145	0.992;0.996	P;P	0.54460	0.57;0.753	D	0.87264	0.2281	10	0.87932	D	0	-7.9813	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1081;1097	O75376;O75376-2	NCOR1_HUMAN;.	L	1081;1097;988	ENSP00000268712:P1081L;ENSP00000379192:P1097L	ENSP00000268712:P1081L	P	-	2	0	NCOR1	15924702	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.180000	0.65048	2.885000	0.99019	0.655000	0.94253	CCG		0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		9	72	0	0	0	1	0	9	72				
C2orf16	84226	broad.mit.edu	37	2	27799764	27799764	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27799764C>G	ENST00000408964.2	+	1	376	c.325C>G	c.(325-327)Cca>Gca	p.P109A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	109						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGAGCAAACTCCAAGAACAAA	0.408																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(325-327)Cca>Gca		chromosome 2 open reading frame 16							58.0	54.0	56.0					2																	27799764		1857	4104	5961	SO:0001583	missense	84226							g.chr2:27799764C>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.325C>G	2.37:g.27799764C>G	ENSP00000386190:p.Pro109Ala						p.P109A	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	376	+	Acute lymphoblastic leukemia(172;0.155)		109					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.325C>G	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395666	0.42512	.	.	ENSG00000221843	ENST00000408964	T	0.08282	3.11	3.98	3.1	0.35709	.	.	.	.	.	T	0.07324	0.0185	L	0.27053	0.805	0.09310	N	1	P	0.46064	0.872	B	0.42692	0.395	T	0.26360	-1.0105	9	0.66056	D	0.02	.	7.4516	0.27242	0.0:0.8785:0.0:0.1215	.	109	Q68DN1	CB016_HUMAN	A	109	ENSP00000386190:P109A	ENSP00000386190:P109A	P	+	1	0	C2orf16	27653268	0.005000	0.15991	0.002000	0.10522	0.040000	0.13550	2.143000	0.42187	1.005000	0.39183	0.462000	0.41574	CCA		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		10	79	0	0	0	1	0	10	79				
PPAP2A	8611	broad.mit.edu	37	5	54721830	54721830	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:54721830C>T	ENST00000307259.8	-	5	1007	c.587G>A	c.(586-588)aGa>aAa	p.R196K	PPAP2A_ENST00000264775.5_Missense_Mutation_p.R197K	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	196					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GCGTAAGAGTCTTGCCCAGTC	0.378																																						ENST00000307259.8																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9						c.(586-588)aGa>aAa		phosphatidic acid phosphatase type 2A							83.0	81.0	82.0					5																	54721830		2203	4300	6503	SO:0001583	missense	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54721830C>T	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.587G>A	5.37:g.54721830C>T	ENSP00000302229:p.Arg196Lys					PPAP2A_ENST00000264775.5_Missense_Mutation_p.R197K	p.R196K	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN			5	1007	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	196					B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	c.587G>A	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549892	0.86127	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.32753	1.44;1.45	5.65	5.65	0.86999	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	L	0.45051	1.395	0.58432	D	0.999997	D;D	0.89917	0.975;1.0	D;D	0.87578	0.934;0.998	T	0.11494	-1.0585	10	0.21014	T	0.42	-21.5052	20.0781	0.97751	0.0:1.0:0.0:0.0	.	196;197	O14494;G3XA95	LPP1_HUMAN;.	K	197;196	ENSP00000264775:R197K;ENSP00000302229:R196K	ENSP00000264775:R197K	R	-	2	0	PPAP2A	54757587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.817000	0.96982	0.563000	0.77884	AGA		0.378	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			13	98	0	0	0	1	0	13	98				
CEP85	64793	broad.mit.edu	37	1	26595006	26595006	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:26595006G>C	ENST00000252992.4	+	8	1505	c.1374G>C	c.(1372-1374)ttG>ttC	p.L458F	CEP85_ENST00000451429.2_Missense_Mutation_p.L407F	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	458						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCAATAATTTGAAAAAGAAAT	0.478																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(1372-1374)ttG>ttC		centrosomal protein 85kDa							62.0	61.0	61.0					1																	26595006		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26595006G>C	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1374G>C	1.37:g.26595006G>C	ENSP00000252992:p.Leu458Phe					CEP85_ENST00000451429.2_Missense_Mutation_p.L407F	p.L458F	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			8	1505	+			458					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.1374G>C	CCDS277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.88|17.88	3.497517|3.497517	0.64186|0.64186	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.12879|.	2.64;2.64|.	4.65|4.65	3.74|3.74	0.42951|0.42951	.|.	0.071164|.	0.56097|.	D|.	0.000024|.	T|.	0.63129|.	0.2485|.	M|M	0.79926|0.79926	2.475|2.475	0.54753|0.54753	D|D	0.999988|0.999988	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.79108|.	0.981;0.992;0.988|.	T|.	0.64736|.	-0.6337|.	10|.	0.59425|.	D|.	0.04|.	-0.5033|-0.5033	1.8207|1.8207	0.03110|0.03110	0.1777:0.149:0.4969:0.1764|0.1777:0.149:0.4969:0.1764	.|.	407;458;458|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	F|S	407;458|132	ENSP00000417002:L407F;ENSP00000252992:L458F|.	ENSP00000252992:L458F|.	L|X	+|+	3|2	2|2	CEP85|CEP85	26467593|26467593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.943000|2.943000	0.49026|0.49026	1.309000|1.309000	0.44985|0.44985	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.478	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		12	50	0	0	0	1	0	12	50				
SEMA5A	9037	broad.mit.edu	37	5	9063171	9063171	+	Silent	SNP	C	C	T	rs372886222		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:9063171C>T	ENST00000382496.5	-	18	3011	c.2346G>A	c.(2344-2346)acG>acA	p.T782T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	782					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCCCGTTGACCGTGTGGGCAG	0.562																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2344-2346)acG>acA		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		C		0,4406		0,0,2203	56.0	48.0	51.0		2346	-8.1	0.2	5		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA5A	NM_003966.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		782/1075	9063171	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9063171C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2346G>A	5.37:g.9063171C>T							p.T782T	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			18	3011	-			782					D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.2346G>A	CCDS3875.1																																																																																				0.562	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			3	28	0	0	0	1	0	3	28				
DLGAP1	9229	broad.mit.edu	37	18	3814187	3814187	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:3814187G>C	ENST00000315677.3	-	5	1639	c.1044C>G	c.(1042-1044)atC>atG	p.I348M	DLGAP1_ENST00000400150.3_Missense_Mutation_p.I54M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.I348M|snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000584874.1_Missense_Mutation_p.I348M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.I54M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.I348M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.I46M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.I56M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.I54M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.I60M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	348					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCATGGCCTTGATATAACTGC	0.488																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(1042-1044)atC>atG		discs, large (Drosophila) homolog-associated protein 1							133.0	122.0	126.0					18																	3814187		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3814187G>C	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1044C>G	18.37:g.3814187G>C	ENSP00000316377:p.Ile348Met					DLGAP1_ENST00000400145.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.I60M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.I348M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.I348M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.I56M|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000539435.1_Missense_Mutation_p.I46M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.I54M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.I54M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.I348M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.I54M	p.I348M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			5	1639	-		Colorectal(8;0.0257)	348					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.1044C>G	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657659	0.67586	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.96	5.09	0.68999	.	0.050613	0.85682	D	0.000000	T	0.52613	0.1745	M	0.76170	2.325	0.53688	D	0.999977	D;D;D;D;D;D;D;P;D	0.64830	0.966;0.966;0.988;0.973;0.988;0.994;0.98;0.955;0.993	P;P;P;P;P;P;P;P;D	0.68192	0.641;0.641;0.905;0.713;0.905;0.851;0.804;0.726;0.956	T	0.54132	-0.8339	10	0.87932	D	0	-29.3774	11.5778	0.50873	0.136:0.0:0.8639:0.0	.	348;60;34;54;46;348;46;348;46	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;Q6IS01;O14490-3;O14490;O14490-2	.;.;.;.;.;.;.;DLGP1_HUMAN;.	M	348;46;54;56;54;60;46;46;348	ENSP00000316377:I348M;ENSP00000383011:I46M;ENSP00000383014:I54M;ENSP00000383013:I56M;ENSP00000383019:I54M;ENSP00000437817:I60M;ENSP00000446312:I46M;ENSP00000383010:I46M;ENSP00000445973:I348M	ENSP00000316377:I348M	I	-	3	3	DLGAP1	3804187	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.532000	0.45659	2.832000	0.97577	0.655000	0.94253	ATC		0.488	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			24	115	0	0	0	1	0	24	115				
SCN7A	6332	broad.mit.edu	37	2	167262275	167262275	+	Nonsense_Mutation	SNP	G	G	A	rs571278405	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:167262275G>A	ENST00000409855.1	-	25	4990	c.4864C>T	c.(4864-4866)Cga>Tga	p.R1622*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1622					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCTTGTTTTCGTTTCAAAGTA	0.363													G|||	2	0.000399361	0.0	0.0	5008	,	,		20285	0.0		0.0	False		,,,				2504	0.002					ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4864-4866)Cga>Tga		sodium channel, voltage-gated, type VII, alpha subunit							158.0	150.0	153.0					2																	167262275		1879	4109	5988	SO:0001587	stop_gained	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262275G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4864C>T	2.37:g.167262275G>A	ENSP00000386796:p.Arg1622*						p.R1622*	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4990	-			1622						Nonsense_Mutation	SNP	ENST00000409855.1	37	c.4864C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	43	9.917007	0.99295	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	.	.	.	4.51	2.62	0.31277	.	0.000000	0.45361	D	0.000378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1908	0.48683	0.0:0.0:0.6669:0.3331	.	.	.	.	X	1622	.	ENSP00000259060:R1622X	R	-	1	2	SCN7A	166970521	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.679000	0.54634	0.590000	0.29694	-0.181000	0.13052	CGA		0.363	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			5	192	0	0	0	1	0	5	192				
SYCP3	50511	broad.mit.edu	37	12	102131053	102131053	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:102131053G>A	ENST00000392927.3	-	3	288	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	SYCP3_ENST00000266743.2_Missense_Mutation_p.R53C|SYCP3_ENST00000392924.1_Missense_Mutation_p.R53C	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	53					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCTTCCTACGTTTCTCAATG	0.303																																						ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(157-159)Cgt>Tgt		synaptonemal complex protein 3							115.0	121.0	119.0					12																	102131053		2202	4299	6501	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102131053G>A	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.157C>T	12.37:g.102131053G>A	ENSP00000376658:p.Arg53Cys					SYCP3_ENST00000266743.2_Missense_Mutation_p.R53C|SYCP3_ENST00000392924.1_Missense_Mutation_p.R53C	p.R53C	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			3	288	-			53						Missense_Mutation	SNP	ENST00000392927.3	37	c.157C>T	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	G	2.955	-0.215947	0.06101	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.5	3.56	0.40772	.	0.583903	0.19185	N	0.120565	T	0.14356	0.0347	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.08351	-1.0726	9	0.51188	T	0.08	0.0305	3.4621	0.07536	0.1421:0.1423:0.5687:0.1469	.	53	Q8IZU3	SYCP3_HUMAN	C	53	.	ENSP00000266743:R53C	R	-	1	0	SYCP3	100655184	0.841000	0.29509	0.004000	0.12327	0.002000	0.02628	1.968000	0.40500	1.327000	0.45338	-0.224000	0.12420	CGT		0.303	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		4	161	0	0	0	1	0	4	161				
QRSL1	55278	broad.mit.edu	37	6	107100173	107100173	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:107100173C>T	ENST00000369046.4	+	6	751	c.647C>T	c.(646-648)tCc>tTc	p.S216F	QRSL1_ENST00000369044.1_Missense_Mutation_p.S216F	NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GGCTTAGTTTCCCGTCATGGT	0.448																																					NSCLC(192;2127 2142 11668 26277 49545)	ENST00000369046.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(646-648)tCc>tTc		glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1							107.0	95.0	99.0					6																	107100173		2203	4300	6503	SO:0001583	missense	55278				translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor	g.chr6:107100173C>T	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.647C>T	6.37:g.107100173C>T	ENSP00000358042:p.Ser216Phe					QRSL1_ENST00000369044.1_Missense_Mutation_p.S216F	p.S216F	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)	6	751	+	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	216						Missense_Mutation	SNP	ENST00000369046.4	37	c.647C>T	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075197	0.94000	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.66460	-0.21;-0.21	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90290	0.6963	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93798	0.7098	10	0.87932	D	0	-19.6847	20.3495	0.98807	0.0:1.0:0.0:0.0	.	216;216	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	F	216	ENSP00000358042:S216F;ENSP00000358040:S216F	ENSP00000358040:S216F	S	+	2	0	QRSL1	107206866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.416000	0.80143	2.814000	0.96858	0.591000	0.81541	TCC		0.448	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		8	71	0	0	0	1	0	8	71				
CSNK1E	1454	broad.mit.edu	37	22	38698965	38698965	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:38698965C>G	ENST00000396832.1	-	4	497	c.237G>C	c.(235-237)gtG>gtC	p.V79V	CSNK1E_ENST00000359867.3_Silent_p.V79V|CSNK1E_ENST00000413574.2_Silent_p.V79V|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Silent_p.V79V|CSNK1E_ENST00000400206.2_Silent_p.V79V|CSNK1E_ENST00000405675.3_Silent_p.V79V	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CCATGACCATCACGTTGTAGT	0.617																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(235-237)gtG>gtC		casein kinase 1, epsilon							109.0	95.0	100.0					22																	38698965		2203	4300	6503	SO:0001819	synonymous_variant	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38698965C>G		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.237G>C	22.37:g.38698965C>G						CSNK1E_ENST00000400206.2_Silent_p.V79V|CSNK1E_ENST00000405675.3_Silent_p.V79V|CSNK1E_ENST00000413574.2_Silent_p.V79V|CSNK1E_ENST00000403904.1_Silent_p.V79V|CSNK1E_ENST00000359867.3_Silent_p.V79V	p.V79V	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			4	497	-	Melanoma(58;0.045)		79			Protein kinase.			Silent	SNP	ENST00000396832.1	37	c.237G>C	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	C	9.814	1.183918	0.21870	.	.	ENSG00000213923	ENST00000451964	.	.	.	5.23	-1.2	0.09554	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2164	0.43170	0.0788:0.2542:0.5921:0.075	.	.	.	.	S	17	.	.	X	-	2	2	CSNK1E	37028911	0.877000	0.30153	0.986000	0.45419	0.910000	0.53928	-0.127000	0.10547	-0.335000	0.08451	-0.448000	0.05591	TGA		0.617	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		8	92	0	0	0	1	0	8	92				
COL24A1	255631	broad.mit.edu	37	1	86591748	86591748	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:86591748C>T	ENST00000370571.2	-	3	637	c.271G>A	c.(271-273)Gag>Aag	p.E91K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E91K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	91					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAAGGTGTCTCGATATAAGCA	0.428																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(271-273)Gag>Aag		collagen, type XXIV, alpha 1							62.0	58.0	59.0					1																	86591748		1852	4094	5946	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591748C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.271G>A	1.37:g.86591748C>T	ENSP00000359603:p.Glu91Lys					COL24A1_ENST00000436319.1_Missense_Mutation_p.E91K	p.E91K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	637	-			91			TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.271G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.316	1.056829	0.19907	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02103	4.45;4.45	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.40222	N	0.001154	T	0.03959	0.0111	L	0.55990	1.75	0.50467	D	0.999875	D;P	0.64830	0.994;0.906	P;B	0.53313	0.723;0.154	T	0.56092	-0.8036	10	0.39692	T	0.17	.	19.0718	0.93140	0.0:1.0:0.0:0.0	.	91;91	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	91	ENSP00000359603:E91K;ENSP00000392531:E91K	ENSP00000359603:E91K	E	-	1	0	COL24A1	86364336	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.642000	0.67888	2.751000	0.94390	0.655000	0.94253	GAG		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		9	71	0	0	0	1	0	9	71				
PLEKHA7	144100	broad.mit.edu	37	11	16877399	16877399	+	Missense_Mutation	SNP	G	G	A	rs367885889		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:16877399G>A	ENST00000355661.3	-	5	378	c.368C>T	c.(367-369)aCa>aTa	p.T123I	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T123I|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T123I|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	123					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCCGTGGATGTTTCACTGAC	0.537																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(367-369)aCa>aTa		pleckstrin homology domain containing, family A member 7		G	ILE/THR	0,4400		0,0,2200	216.0	203.0	207.0		368	5.7	1.0	11		207	3,8585	3.0+/-9.4	0,3,4291	no	missense	PLEKHA7	NM_175058.4	89	0,3,6491	AA,AG,GG		0.0349,0.0,0.0231	benign	123/1122	16877399	3,12985	2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16877399G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.368C>T	11.37:g.16877399G>A	ENSP00000347883:p.Thr123Ile					PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T123I|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T123I	p.T123I			Q6IQ23	PKHA7_HUMAN			5	378	-			123					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.368C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942044	0.73557	0.0	3.49E-4	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.22539	2.78;2.78;2.78;1.95	5.65	5.65	0.86999	.	0.391949	0.29624	N	0.011632	T	0.12390	0.0301	N	0.12746	0.255	0.34477	D	0.703496	B;P	0.43169	0.443;0.8	B;B	0.36030	0.065;0.216	T	0.12708	-1.0537	10	0.52906	T	0.07	-14.2572	14.2585	0.66067	0.0:0.1491:0.8509:0.0	.	123;123	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	I	123;123;123;17	ENSP00000435389:T123I;ENSP00000347883:T123I;ENSP00000416895:T123I;ENSP00000435806:T17I	ENSP00000347883:T123I	T	-	2	0	PLEKHA7	16833975	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	6.826000	0.75298	2.941000	0.99782	0.655000	0.94253	ACA		0.537	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		28	233	0	0	0	1	0	28	233				
GALNT3	2591	broad.mit.edu	37	2	166626751	166626751	+	Missense_Mutation	SNP	C	C	T	rs368590625		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:166626751C>T	ENST00000392701.3	-	2	1235	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	154					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTGTCACTTGCGAAAGCATTA	0.408																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(460-462)Gca>Aca		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							137.0	125.0	129.0					2																	166626751		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166626751C>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.460G>A	2.37:g.166626751C>T	ENSP00000376465:p.Ala154Thr						p.A154T	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			2	1235	-			154					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.460G>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251878	0.95336	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.62639	0.3;0.01	5.81	5.81	0.92471	.	0.054939	0.64402	D	0.000001	T	0.80969	0.4726	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.63597	0.631;0.916	T	0.79895	-0.1610	10	0.38643	T	0.18	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	154;154	Q14435;Q14435-2	GALT3_HUMAN;.	T	154	ENSP00000376465:A154T;ENSP00000412643:A154T	ENSP00000376465:A154T	A	-	1	0	GALNT3	166334997	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GCA		0.408	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		4	94	0	0	0	1	0	4	94				
NLRP6	171389	broad.mit.edu	37	11	285220	285220	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:285220G>C	ENST00000312165.5	+	8	2595	c.2595G>C	c.(2593-2595)aaG>aaC	p.K865N	RP11-326C3.2_ENST00000525217.1_RNA|NLRP6_ENST00000534750.1_Missense_Mutation_p.K864N|RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	865					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCTGTGAAGAGAGCAAAGC	0.612																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2590-2592)aaG>aaC		NLR family, pyrin domain containing 6							77.0	63.0	68.0					11																	285220		2202	4298	6500	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:285220G>C	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2595G>C	11.37:g.285220G>C	ENSP00000309767:p.Lys865Asn					NLRP6_ENST00000312165.5_Missense_Mutation_p.K865N	p.K864N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	8	2797	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	865					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2592G>C	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	g	3.727	-0.056312	0.07362	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.74842	-0.88;-0.86	2.17	2.17	0.27698	.	.	.	.	.	T	0.63593	0.2524	L	0.47716	1.5	0.20926	N	0.999827	B;B	0.33694	0.052;0.421	B;B	0.29862	0.024;0.108	T	0.59037	-0.7529	9	0.72032	D	0.01	.	6.8178	0.23841	0.0:0.2941:0.7059:0.0	.	864;865	E9PJZ8;P59044	.;NALP6_HUMAN	N	864;865	ENSP00000433617:K864N;ENSP00000309767:K865N	ENSP00000309767:K865N	K	+	3	2	NLRP6	275220	0.168000	0.22989	0.649000	0.29536	0.090000	0.18270	1.994000	0.40757	1.531000	0.49152	0.558000	0.71614	AAG		0.612	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	14	0	0	0	1	0	4	14				
RETSAT	54884	broad.mit.edu	37	2	85577207	85577207	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:85577207G>C	ENST00000295802.4	-	4	867	c.755C>G	c.(754-756)tCc>tGc	p.S252C	RETSAT_ENST00000457495.2_Missense_Mutation_p.S191C|RETSAT_ENST00000263854.6_Missense_Mutation_p.S252C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	252					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GAGCTCAGAGGAGGCCCCCAG	0.617																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(754-756)tCc>tGc		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						54.0	56.0	55.0					2																	85577207		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85577207G>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.755C>G	2.37:g.85577207G>C	ENSP00000295802:p.Ser252Cys					RETSAT_ENST00000263854.6_Missense_Mutation_p.S252C|RETSAT_ENST00000457495.2_Missense_Mutation_p.S191C	p.S252C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			4	867	-			252					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.755C>G	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.212619|4.212619	0.79240|0.79240	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000409984|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T;T	.|0.60920	.|0.15;0.15;0.15	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.113799	.|0.64402	.|D	.|0.000010	T|T	0.75102|0.75102	0.3804|0.3804	M|M	0.78049|0.78049	2.395|2.395	0.37732|0.37732	D|D	0.925318|0.925318	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.79108	.|0.992;0.94	T|T	0.79967|0.79967	-0.1580|-0.1580	5|10	.|0.87932	.|D	.|0	-30.1339|-30.1339	12.5278|12.5278	0.56096|0.56096	0.0:0.0:0.8336:0.1664|0.0:0.0:0.8336:0.1664	.|.	.|191;252	.|G5E9N3;Q6NUM9	.|.;RETST_HUMAN	A|C	191|252;252;191	.|ENSP00000295802:S252C;ENSP00000263854:S252C;ENSP00000405040:S191C	.|ENSP00000263854:S252C	P|S	-|-	1|2	0|0	RETSAT|RETSAT	85430718|85430718	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.993000|0.993000	0.82548|0.82548	1.535000|1.535000	0.36061|0.36061	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.617	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		12	81	0	0	0	1	0	12	81				
GNPTAB	79158	broad.mit.edu	37	12	102158185	102158185	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:102158185G>C	ENST00000299314.7	-	13	2772	c.2510C>G	c.(2509-2511)tCt>tGt	p.S837C	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	837					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AACAATCAGAGATGGGGGCTT	0.418																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2509-2511)tCt>tGt		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							188.0	196.0	193.0					12																	102158185		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158185G>C	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2510C>G	12.37:g.102158185G>C	ENSP00000299314:p.Ser837Cys						p.S837C	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2772	-			837					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2510C>G	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311395	0.40895	.	.	ENSG00000111670	ENST00000299314	D	0.96427	-4.01	5.48	3.5	0.40072	.	0.989849	0.08247	N	0.975222	D	0.92289	0.7554	L	0.36672	1.1	0.09310	N	1	P	0.44877	0.845	B	0.39971	0.315	D	0.86249	0.1648	10	0.59425	D	0.04	-6.6127	3.9074	0.09188	0.0866:0.1376:0.5714:0.2044	.	837	Q3T906	GNPTA_HUMAN	C	837	ENSP00000299314:S837C	ENSP00000299314:S837C	S	-	2	0	GNPTAB	100682316	0.007000	0.16637	0.114000	0.21550	0.021000	0.10359	0.915000	0.28638	2.581000	0.87130	0.655000	0.94253	TCT		0.418	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			35	191	0	0	0	1	0	35	191				
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																						ENST00000215832.6																			1	Substitution - Missense(1)	p.E322K(1)	cervix(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(964-966)Gag>Aag		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22127164C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys					MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	7	1152	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	322					A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.964G>A	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			12	63	0	0	0	1	0	12	63				
PTPRO	5800	broad.mit.edu	37	12	15673221	15673221	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:15673221C>T	ENST00000281171.4	+	10	2196	c.1866C>T	c.(1864-1866)gaC>gaT	p.D622D	PTPRO_ENST00000348962.2_Silent_p.D622D	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	622	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTGCTGTGACAGCTCTACCA	0.473																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1864-1866)gaC>gaT		protein tyrosine phosphatase, receptor type, O							126.0	111.0	116.0					12																	15673221		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15673221C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1866C>T	12.37:g.15673221C>T						PTPRO_ENST00000348962.2_Silent_p.D622D	p.D622D	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			10	2196	+		Hepatocellular(102;0.244)	622					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1866C>T	CCDS8675.1																																																																																				0.473	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			19	102	0	0	0	1	0	19	102				
MINPP1	9562	broad.mit.edu	37	10	89265160	89265160	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:89265160C>G	ENST00000371996.4	+	1	529	c.488C>G	c.(487-489)tCg>tGg	p.S163W	MINPP1_ENST00000371994.4_Missense_Mutation_p.S163W|MINPP1_ENST00000536010.1_5'Flank	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	163					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CGTCTGGCCTCGCTCTTCCCG	0.647											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(487-489)tCg>tGg		multiple inositol-polyphosphate phosphatase 1							36.0	40.0	39.0					10																	89265160		2203	4300	6503	SO:0001583	missense	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89265160C>G	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.488C>G	10.37:g.89265160C>G	ENSP00000361064:p.Ser163Trp		OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1266	MINPP1_ENST00000371994.4_Missense_Mutation_p.S163W	p.S163W	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	1	529	+		Colorectal(252;0.122)	163					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.488C>G	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309682	0.60414	.	.	ENSG00000107789	ENST00000371996;ENST00000371994;ENST00000546140	T;T	0.32988	1.43;1.43	5.14	3.09	0.35607	.	1.075970	0.07081	N	0.837086	T	0.53948	0.1828	L	0.61218	1.895	0.18873	N	0.999985	D;D	0.76494	0.999;0.997	D;D	0.66196	0.94;0.942	T	0.47861	-0.9084	10	0.72032	D	0.01	-1.077	14.2538	0.66038	0.0:0.7168:0.2832:0.0	.	163;163	Q9UNW1-2;Q9UNW1	.;MINP1_HUMAN	W	163;163;22	ENSP00000361064:S163W;ENSP00000361062:S163W	ENSP00000361062:S163W	S	+	2	0	MINPP1	89255140	0.023000	0.18921	0.859000	0.33776	0.986000	0.74619	2.092000	0.41700	1.237000	0.43756	0.563000	0.77884	TCG		0.647	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			8	66	0	0	0	1	0	8	66				
IDH1	3417	broad.mit.edu	37	2	209108191	209108191	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:209108191C>T	ENST00000415913.1	-	6	1039	c.658G>A	c.(658-660)Gat>Aat	p.D220N	IDH1_ENST00000446179.1_Missense_Mutation_p.D220N|IDH1_ENST00000345146.2_Missense_Mutation_p.D220N	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	220					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		AAACGCCCATCATATTTCTTC	0.338			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		0				NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(658-660)Gat>Aat		isocitrate dehydrogenase 1 (NADP+), soluble							94.0	95.0	95.0					2																	209108191		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209108191C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.658G>A	2.37:g.209108191C>T	ENSP00000390265:p.Asp220Asn					IDH1_ENST00000446179.1_Missense_Mutation_p.D220N|IDH1_ENST00000345146.2_Missense_Mutation_p.D220N	p.D220N			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	6	1039	-			220					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.658G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678459	0.96764	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.79653	-1.29;-1.29;-1.29	5.76	5.76	0.90799	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.89567	0.6752	H	0.99286	4.5	0.80722	D	1	P	0.39326	0.668	B	0.34779	0.189	D	0.92638	0.6122	10	0.87932	D	0	-43.9469	19.9766	0.97312	0.0:1.0:0.0:0.0	.	220	O75874	IDHC_HUMAN	N	220	ENSP00000260985:D220N;ENSP00000410513:D220N;ENSP00000390265:D220N	ENSP00000260985:D220N	D	-	1	0	IDH1	208816436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.771000	0.85420	2.739000	0.93911	0.555000	0.69702	GAT		0.338	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			11	82	0	0	0	1	0	11	82				
ACOX1	51	broad.mit.edu	37	17	73947546	73947546	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:73947546G>A	ENST00000301608.4	-	8	1117	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y	ACOX1_ENST00000537812.1_Missense_Mutation_p.H315Y|ACOX1_ENST00000293217.5_Missense_Mutation_p.H353Y	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	353					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TTAATCCGGTGATAGGTCTCC	0.488																																						ENST00000537812.1																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(943-945)Cac>Tac		acyl-CoA oxidase 1, palmitoyl							166.0	152.0	157.0					17																	73947546		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73947546G>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1057C>T	17.37:g.73947546G>A	ENSP00000301608:p.His353Tyr					ACOX1_ENST00000301608.4_Missense_Mutation_p.H353Y|ACOX1_ENST00000293217.5_Missense_Mutation_p.H353Y	p.H315Y	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			8	1591	-			353					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.943C>T	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862458	0.32884	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69806	-0.43;-0.43;-0.43	5.72	3.72	0.42706	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.392722	0.30293	N	0.009945	T	0.59376	0.2189	L	0.53617	1.68	0.42283	D	0.992107	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.003;0.0;0.0	T	0.53767	-0.8392	10	0.31617	T	0.26	-2.6286	11.033	0.47785	0.0672:0.0:0.8034:0.1294	.	285;315;353;353	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	Y	353;353;315;353;285	ENSP00000301608:H353Y;ENSP00000293217:H353Y;ENSP00000441257:H315Y	ENSP00000293217:H353Y	H	-	1	0	ACOX1	71459141	0.552000	0.26505	0.177000	0.23020	0.935000	0.57460	2.211000	0.42825	0.749000	0.32854	0.462000	0.41574	CAC		0.488	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			14	111	0	0	0	1	0	14	111				
NUP210	23225	broad.mit.edu	37	3	13367415	13367415	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:13367415C>G	ENST00000254508.5	-	33	4606	c.4524G>C	c.(4522-4524)tgG>tgC	p.W1508C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1508					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCGAGGAGCTCCAGGTTCCTG	0.627																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4522-4524)tgG>tgC		nucleoporin 210kDa							94.0	88.0	90.0					3																	13367415		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13367415C>G	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4524G>C	3.37:g.13367415C>G	ENSP00000254508:p.Trp1508Cys						p.W1508C	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			33	4606	-	all_neural(104;0.187)		1508					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.4524G>C	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940951	0.52972	.	.	ENSG00000132182	ENST00000254508	T	0.20200	2.09	4.63	4.63	0.57726	.	0.257041	0.35349	N	0.003267	T	0.45577	0.1349	M	0.85542	2.76	0.80722	D	1	D	0.67145	0.996	P	0.55161	0.77	T	0.58267	-0.7666	10	0.87932	D	0	.	17.4894	0.87699	0.0:1.0:0.0:0.0	.	1508	Q8TEM1	PO210_HUMAN	C	1508	ENSP00000254508:W1508C	ENSP00000254508:W1508C	W	-	3	0	NUP210	13342415	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.679000	0.84048	2.128000	0.65567	0.467000	0.42956	TGG		0.627	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		21	108	0	0	0	1	0	21	108				
TRIM5	85363	broad.mit.edu	37	11	5701271	5701271	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:5701271G>C	ENST00000380034.3	-	2	393	c.137C>G	c.(136-138)tCc>tGc	p.S46C	TRIM5_ENST00000396847.3_Missense_Mutation_p.S46C|TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000380027.1_Missense_Mutation_p.S46C|TRIM5_ENST00000396853.4_Missense_Mutation_p.S46C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S46C|TRIM5_ENST00000305836.5_Missense_Mutation_p.S46C	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	46					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTCTAGCATGGACTTCTTGTG	0.557																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(136-138)tCc>tGc		tripartite motif containing 5							132.0	116.0	121.0					11																	5701271		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701271G>C	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.137C>G	11.37:g.5701271G>C	ENSP00000369373:p.Ser46Cys					TRIM5_ENST00000380027.1_Missense_Mutation_p.S46C|TRIM5_ENST00000396853.4_Missense_Mutation_p.S46C|TRIM5_ENST00000380034.3_Missense_Mutation_p.S46C|TRIM5_ENST00000396847.3_Missense_Mutation_p.S46C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S46C	p.S46C			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	439	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	46					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.137C>G	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629961	0.28978	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903;ENST00000419850	T;T;T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0;3.0;3.0	4.07	3.16	0.36331	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.263460	0.05507	N	0.559477	T	0.28830	0.0715	L	0.58510	1.815	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.993;0.951;1.0	T	0.08186	-1.0734	10	0.72032	D	0.01	.	6.3885	0.21574	0.2181:0.0:0.7819:0.0	.	46;46;46	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	C	46	ENSP00000380064:S46C;ENSP00000307031:S46C;ENSP00000369373:S46C;ENSP00000369366:S46C;ENSP00000380058:S46C;ENSP00000380062:S46C;ENSP00000388031:S46C;ENSP00000388150:S46C	ENSP00000307031:S46C	S	-	2	0	TRIM5	5657847	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-0.488000	0.06497	1.288000	0.44600	0.650000	0.86243	TCC		0.557	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		17	141	0	0	0	1	0	17	141				
MRO	83876	broad.mit.edu	37	18	48327852	48327852	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:48327852G>A	ENST00000428869.2	-	7	710	c.452C>T	c.(451-453)tCg>tTg	p.S151L	MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.S151L|MRO_ENST00000256425.2_Missense_Mutation_p.S151L|MRO_ENST00000436348.2_Missense_Mutation_p.S165L|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Intron			Q9BYG7	MSTRO_HUMAN	maestro	151						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AACAAAGGCCGAGTATCTCAG	0.463																																						ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.(451-453)tCg>tTg		maestro							170.0	165.0	167.0					18																	48327852		2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48327852G>A	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.452C>T	18.37:g.48327852G>A	ENSP00000409509:p.Ser151Leu					MRO_ENST00000588444.1_Intron|MRO_ENST00000436348.2_Missense_Mutation_p.S165L|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Missense_Mutation_p.S151L|MRO_ENST00000398439.3_Missense_Mutation_p.S151L	p.S151L			Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	7	710	-		Colorectal(6;0.0596)	151					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.452C>T	CCDS11947.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737206	0.69304	.	.	ENSG00000134042	ENST00000436348;ENST00000398439;ENST00000256425	T;T;T	0.64991	-0.13;1.46;1.46	5.68	3.91	0.45181	Armadillo-like helical (1);Armadillo-type fold (1);	0.133723	0.34652	N	0.003788	T	0.75162	0.3812	M	0.81802	2.56	0.31922	N	0.613248	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.76675	-0.2872	10	0.33940	T	0.23	-24.96	8.7783	0.34776	0.1727:0.0:0.8273:0.0	.	165;151	E9PAT5;Q9BYG7	.;MSTRO_HUMAN	L	165;151;151	ENSP00000397900:S165L;ENSP00000381465:S151L;ENSP00000256425:S151L	ENSP00000256425:S151L	S	-	2	0	MRO	46581850	0.908000	0.30866	0.625000	0.29200	0.904000	0.53231	2.407000	0.44565	0.768000	0.33290	0.650000	0.86243	TCG		0.463	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		13	298	0	0	0	1	0	13	298				
MLLT10	8028	broad.mit.edu	37	10	22024158	22024158	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:22024158C>T	ENST00000307729.7	+	21	3127	c.2949C>T	c.(2947-2949)ctC>ctT	p.L983L	MLLT10_ENST00000377072.3_Silent_p.L999L|MLLT10_ENST00000446906.2_Silent_p.L983L|MLLT10_ENST00000377059.3_Silent_p.L983L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	983					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCAACAGCTCACACCAGTAA	0.363			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2995-2997)ctC>ctT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							148.0	146.0	147.0					10																	22024158		2203	4300	6503	SO:0001819	synonymous_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22024158C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2949C>T	10.37:g.22024158C>T						MLLT10_ENST00000446906.2_Silent_p.L983L|MLLT10_ENST00000307729.7_Silent_p.L983L|MLLT10_ENST00000377059.3_Silent_p.L983L	p.L999L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			22	3345	+			999					B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	c.2997C>T	CCDS55708.1																																																																																				0.363	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			17	124	0	0	0	1	0	17	124				
ZNF513	130557	broad.mit.edu	37	2	27601662	27601662	+	Missense_Mutation	SNP	G	G	T	rs149911850		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27601662G>T	ENST00000323703.6	-	3	669	c.471C>A	c.(469-471)ttC>ttA	p.F157L	ZNF513_ENST00000407879.1_Missense_Mutation_p.F95L|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	157					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGACACGAAGGTGCAGA	0.697																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(469-471)ttC>ttA		zinc finger protein 513							41.0	42.0	42.0					2																	27601662		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601662G>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.471C>A	2.37:g.27601662G>T	ENSP00000318373:p.Phe157Leu					ZNF513_ENST00000407879.1_Missense_Mutation_p.F95L|ZNF513_ENST00000491924.1_Intron	p.F157L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			3	669	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		157					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.471C>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332247	0.60853	.	.	ENSG00000163795	ENST00000323703;ENST00000407879;ENST00000436006	T;T;T	0.57752	1.71;1.71;0.38	4.62	3.72	0.42706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.52532	D	0.000065	T	0.45074	0.1324	N	0.08118	0	0.40904	D	0.984177	D	0.59767	0.986	P	0.60012	0.867	T	0.51212	-0.8734	10	0.72032	D	0.01	-3.4566	8.5318	0.33340	0.1793:0.0:0.8207:0.0	.	157	Q8N8E2	ZN513_HUMAN	L	157;95;95	ENSP00000318373:F157L;ENSP00000384874:F95L;ENSP00000394226:F95L	ENSP00000318373:F157L	F	-	3	2	ZNF513	27455166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.180000	0.50895	2.402000	0.81655	0.561000	0.74099	TTC		0.697	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		8	36	1	0	1.12685e-05	1	1.15588e-05	8	36				
TRIP12	9320	broad.mit.edu	37	2	230672975	230672975	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:230672975G>A	ENST00000283943.5	-	15	2366	c.2188C>T	c.(2188-2190)Ctg>Ttg	p.L730L	TRIP12_ENST00000389045.3_Silent_p.L433L|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Silent_p.L778L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	730					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TACCAAATCAGAGATGTCAGT	0.478																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2188-2190)Ctg>Ttg		thyroid hormone receptor interactor 12							75.0	73.0	74.0					2																	230672975		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230672975G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2188C>T	2.37:g.230672975G>A						TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.L433L|TRIP12_ENST00000389044.4_Silent_p.L778L	p.L730L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	15	2366	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	730					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.2188C>T	CCDS33391.1																																																																																				0.478	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		8	73	0	0	0	1	0	8	73				
CUL9	23113	broad.mit.edu	37	6	43172163	43172163	+	Missense_Mutation	SNP	C	C	T	rs371581531		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:43172163C>T	ENST00000252050.4	+	21	4309	c.4225C>T	c.(4225-4227)Cgg>Tgg	p.R1409W	CUL9_ENST00000354495.3_Missense_Mutation_p.R1299W|CUL9_ENST00000372647.2_Missense_Mutation_p.R1409W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1409					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGAGACCTCTCGGAACCCCTT	0.572																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4225-4227)Cgg>Tgg		cullin 9		C	TRP/ARG	0,4406		0,0,2203	177.0	161.0	167.0		4225	3.3	0.0	6		167	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUL9	NM_015089.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1409/2518	43172163	1,13005	2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43172163C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4225C>T	6.37:g.43172163C>T	ENSP00000252050:p.Arg1409Trp					CUL9_ENST00000372647.2_Missense_Mutation_p.R1409W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1299W	p.R1409W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			21	4309	+			1409					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4225C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433657	0.43224	0.0	1.16E-4	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74737	-0.87;-0.87;-0.76	5.12	3.28	0.37604	.	0.331360	0.28409	N	0.015452	T	0.73434	0.3586	L	0.56769	1.78	0.09310	N	1	D;D;D	0.71674	0.998;0.988;0.988	D;P;P	0.64042	0.921;0.713;0.766	T	0.68981	-0.5266	10	0.62326	D	0.03	-8.1447	13.0092	0.58722	0.421:0.579:0.0:0.0	.	1299;1409;1409	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	W	1409;1299;1409	ENSP00000252050:R1409W;ENSP00000346490:R1299W;ENSP00000361730:R1409W	ENSP00000252050:R1409W	R	+	1	2	CUL9	43280141	0.000000	0.05858	0.001000	0.08648	0.101000	0.19017	0.469000	0.22067	0.489000	0.27749	0.491000	0.48974	CGG		0.572	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		34	170	0	0	0	1	0	34	170				
DSPP	1834	broad.mit.edu	37	4	88535226	88535226	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:88535226C>G	ENST00000282478.7	+	4	1445	c.1412C>G	c.(1411-1413)tCt>tGt	p.S471C	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.S471C			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	471	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGTGATGAATCTAATGGCAAT	0.388																																						ENST00000399271.1																			0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1411-1413)tCt>tGt		dentin sialophosphoprotein							132.0	125.0	127.0					4																	88535226		2023	4188	6211	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88535226C>G	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1412C>G	4.37:g.88535226C>G	ENSP00000282478:p.Ser471Cys					DSPP_ENST00000282478.7_Missense_Mutation_p.S471C|RP11-742B18.1_ENST00000506480.1_RNA	p.S471C	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	5	1532	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	471			Asp/Ser-rich.		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1412C>G	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	C	4.513	0.095219	0.08681	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.91686	-2.89;-2.89	4.01	4.01	0.46588	.	0.542116	0.13969	N	0.350329	D	0.95265	0.8464	M	0.78456	2.415	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	D	0.88060	0.2793	10	0.72032	D	0.01	-2.7503	10.4698	0.44629	0.0:0.8005:0.1995:0.0	.	471	Q9NZW4	DSPP_HUMAN	C	471	ENSP00000382213:S471C;ENSP00000282478:S471C	ENSP00000282478:S471C	S	+	2	0	DSPP	88754250	0.004000	0.15560	0.049000	0.19019	0.036000	0.12997	1.196000	0.32198	2.177000	0.69029	0.446000	0.29264	TCT		0.388	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		21	94	0	0	0	1	0	21	94				
NIPBL	25836	broad.mit.edu	37	5	37059261	37059261	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059261C>T	ENST00000282516.8	+	44	8178	c.7679C>T	c.(7678-7680)tCt>tTt	p.S2560F	NIPBL_ENST00000448238.2_Missense_Mutation_p.S2560F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2560					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGTGGATTTTCTGATAGGTAA	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7678-7680)tCt>tTt		Nipped-B homolog (Drosophila)							63.0	67.0	66.0					5																	37059261		2203	4299	6502	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37059261C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7679C>T	5.37:g.37059261C>T	ENSP00000282516:p.Ser2560Phe					NIPBL_ENST00000448238.2_Missense_Mutation_p.S2560F	p.S2560F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		44	8178	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2560					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7679C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702562	0.88924	.	.	ENSG00000164190	ENST00000282516;ENST00000448238;ENST00000513819	D;D;T	0.94417	-3.42;-3.4;-1.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.97195	0.9083	M	0.75264	2.295	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.72982	0.952;0.952;0.979	D	0.97264	0.9906	10	0.87932	D	0	-9.7822	20.1542	0.98100	0.0:1.0:0.0:0.0	.	2560;2560;2560	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	F	2560;2560;86	ENSP00000282516:S2560F;ENSP00000406266:S2560F;ENSP00000421504:S86F	ENSP00000282516:S2560F	S	+	2	0	NIPBL	37095018	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.463000	0.80869	2.767000	0.95098	0.563000	0.77884	TCT		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		6	54	0	0	0	1	0	6	54				
NES	10763	broad.mit.edu	37	1	156642171	156642171	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156642171C>G	ENST00000368223.3	-	4	1941	c.1809G>C	c.(1807-1809)gtG>gtC	p.V603V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	603	Tail.			ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTAGAGGTCTCACTACCTCCA	0.398																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1807-1809)gtG>gtC		nestin							85.0	86.0	86.0					1																	156642171		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642171C>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1809G>C	1.37:g.156642171C>G							p.V603V	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1941	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		603	ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780).		Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.1809G>C	CCDS1151.1																																																																																				0.398	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		7	69	0	0	0	1	0	7	69				
CIITA	4261	broad.mit.edu	37	16	11010232	11010232	+	Missense_Mutation	SNP	C	C	T	rs547505584	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:11010232C>T	ENST00000324288.8	+	15	3111	c.2978C>T	c.(2977-2979)gCg>gTg	p.A993V	CIITA_ENST00000381835.5_Missense_Mutation_p.A409V	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	993					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGCCTGGATGCGCTGAGTGAG	0.627			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								C|||	2	0.000399361	0.0	0.0029	5008	,	,		16939	0.0		0.0	False		,,,				2504	0.0					ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(2977-2979)gCg>gTg		class II, major histocompatibility complex, transactivator							54.0	43.0	47.0					16																	11010232		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11010232C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2978C>T	16.37:g.11010232C>T	ENSP00000316328:p.Ala993Val					CIITA_ENST00000381835.5_Missense_Mutation_p.A409V	p.A993V	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			15	3111	+			993					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.2978C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938588	0.73557	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.72725	-0.68;1.67	5.02	5.02	0.67125	.	0.427896	0.17382	N	0.176278	T	0.54791	0.1880	N	0.03608	-0.345	0.25101	N	0.99079	D;P;D	0.55385	0.963;0.95;0.971	P;B;B	0.46339	0.513;0.269;0.269	T	0.57112	-0.7867	10	0.72032	D	0.01	.	15.0701	0.72030	0.0:1.0:0.0:0.0	.	409;993;993	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	V	993;409	ENSP00000316328:A993V;ENSP00000371257:A409V	ENSP00000316328:A993V	A	+	2	0	CIITA	10917733	0.898000	0.30612	0.912000	0.35992	0.850000	0.48378	4.173000	0.58249	2.328000	0.79073	0.462000	0.41574	GCG		0.627	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		4	26	0	0	0	1	0	4	26				
SPAG17	200162	broad.mit.edu	37	1	118642244	118642244	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:118642244G>A	ENST00000336338.5	-	6	879	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	272						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACTGAAGAAGAACTTCCTGC	0.403																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(814-816)Ctt>Ttt		sperm associated antigen 17							164.0	170.0	168.0					1																	118642244		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118642244G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.814C>T	1.37:g.118642244G>A	ENSP00000337804:p.Leu272Phe						p.L272F	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	6	879	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	272					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.814C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	5.479	0.273387	0.10403	.	.	ENSG00000155761	ENST00000336338	T	0.21361	2.01	5.36	-3.01	0.05463	.	0.911799	0.09711	N	0.765691	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47005	-0.9150	10	0.11182	T	0.66	.	6.311	0.21164	0.3165:0.3778:0.3057:0.0	.	272	Q6Q759	SPG17_HUMAN	F	272	ENSP00000337804:L272F	ENSP00000337804:L272F	L	-	1	0	SPAG17	118443767	0.002000	0.14202	0.520000	0.27837	0.968000	0.65278	-0.074000	0.11450	-0.758000	0.04690	-0.484000	0.04775	CTT		0.403	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		25	199	0	0	0	1	0	25	199				
MAP3K4	4216	broad.mit.edu	37	6	161470317	161470317	+	Missense_Mutation	SNP	C	C	T	rs561816464		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:161470317C>T	ENST00000392142.4	+	3	1161	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	MAP3K4_ENST00000366919.2_Missense_Mutation_p.S338L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S338L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S338L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	338					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTAGGTTACTCAACACATCAT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19375	0.0		0.0	False		,,,				2504	0.001					ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1012-1014)tCa>tTa		mitogen-activated protein kinase kinase kinase 4							98.0	101.0	100.0					6																	161470317		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470317C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1013C>T	6.37:g.161470317C>T	ENSP00000375986:p.Ser338Leu					MAP3K4_ENST00000366920.2_Missense_Mutation_p.S338L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S338L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S338L	p.S338L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1161	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	338					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1013C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774970	0.31411	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.74	5.74	0.90152	.	0.256409	0.33235	N	0.005129	T	0.19805	0.0476	L	0.38531	1.155	0.23070	N	0.998344	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.06427	-1.0827	10	0.54805	T	0.06	-2.3067	19.9329	0.97127	0.0:1.0:0.0:0.0	.	338;338	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	L	338	ENSP00000355886:S338L;ENSP00000375986:S338L;ENSP00000355887:S338L;ENSP00000297332:S338L	ENSP00000297332:S338L	S	+	2	0	MAP3K4	161390307	0.962000	0.33011	0.008000	0.14137	0.930000	0.56654	4.412000	0.59787	2.714000	0.92807	0.650000	0.86243	TCA		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			17	76	0	0	0	1	0	17	76				
MTBP	27085	broad.mit.edu	37	8	121528344	121528344	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:121528344G>C	ENST00000305949.1	+	18	2204	c.2159G>C	c.(2158-2160)gGa>gCa	p.G720A		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	720	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.G720E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCCCTGACGGAGAAGTTTTA	0.418																																						ENST00000305949.1																			1	Substitution - Missense(1)	p.G720E(1)	skin(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2158-2160)gGa>gCa		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							84.0	80.0	82.0					8																	121528344		2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121528344G>C		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2159G>C	8.37:g.121528344G>C	ENSP00000303398:p.Gly720Ala						p.G720A	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2204	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		720			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2159G>C	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519216	0.44866	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.98	4.1	0.47936	.	0.056640	0.64402	D	0.000001	T	0.57902	0.2085	M	0.71581	2.175	0.58432	D	0.999996	D	0.55385	0.971	P	0.45276	0.475	T	0.62006	-0.6945	9	0.46703	T	0.11	-19.0755	10.7206	0.46038	0.0677:0.0:0.8002:0.132	.	720	Q96DY7	MTBP_HUMAN	A	720	.	ENSP00000303398:G720A	G	+	2	0	MTBP	121597525	1.000000	0.71417	0.936000	0.37596	0.010000	0.07245	4.864000	0.62990	1.544000	0.49359	0.591000	0.81541	GGA		0.418	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		24	104	0	0	0	1	0	24	104				
NIPBL	25836	broad.mit.edu	37	5	37064094	37064094	+	Intron	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37064094G>A	ENST00000282516.8	+	46	8548				NIPBL_ENST00000448238.2_Missense_Mutation_p.R2688K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGCGGAGGAGGAGTCAACGT	0.418																																						ENST00000448238.2																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8062-8064)aGg>aAg		Nipped-B homolog (Drosophila)							202.0	218.0	213.0					5																	37064094		2203	4300	6503	SO:0001627	intron_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064094G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8049+14G>A	5.37:g.37064094G>A						NIPBL_ENST00000282516.8_Intron	p.R2688K			Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		46	8531	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		844					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.8063G>A	CCDS3920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.370|4.370	0.068269|0.068269	0.08436|0.08436	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000507919|ENST00000448238	.|D	.|0.92595	.|-3.07	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|.	.|.	.|.	.|.	D|D	0.84147|0.84147	0.5408|0.5408	N|N	0.08118|0.08118	0|0	0.24481|0.24481	N|N	0.994344|0.994344	.|B	.|0.17038	.|0.02	.|B	.|0.11329	.|0.006	T|T	0.66779|0.66779	-0.5837|-0.5837	5|8	.|.	.|.	.|.	.|.	17.5743|17.5743	0.87944|0.87944	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2688	.|Q6KC79-2	.|.	R|K	194|2688	.|ENSP00000406266:R2688K	.|.	G|R	+|+	1|2	0|0	NIPBL|NIPBL	37099851|37099851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.002000|5.002000	0.63952|0.63952	2.583000|2.583000	0.87209|0.87209	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.418	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	37	0	0	0	1	0	7	37				
UBXN7	26043	broad.mit.edu	37	3	196120455	196120455	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:196120455C>G	ENST00000296328.4	-	4	399	c.325G>C	c.(325-327)Gat>Cat	p.D109H	UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_5'UTR|RNU6-1279P_ENST00000383917.1_RNA	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	109						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CGGAAACCATCAAAAATTGAA	0.328																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(325-327)Gat>Cat		UBX domain protein 7							84.0	80.0	81.0					3																	196120455		1807	4063	5870	SO:0001583	missense	26043						protein binding	g.chr3:196120455C>G	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.325G>C	3.37:g.196120455C>G	ENSP00000296328:p.Asp109His					UBXN7_ENST00000535858.1_5'UTR|UBXN7_ENST00000428095.1_Intron	p.D109H	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			4	399	-			109					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.325G>C	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781162	0.90282	.	.	ENSG00000163960	ENST00000296328;ENST00000413584	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.79131	0.4394	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80155	-0.1500	9	0.56958	D	0.05	-16.7608	18.726	0.91714	0.0:1.0:0.0:0.0	.	109	O94888	UBXN7_HUMAN	H	109;76	.	ENSP00000296328:D109H	D	-	1	0	UBXN7	197604852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.672000	0.74477	2.505000	0.84491	0.655000	0.94253	GAT		0.328	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		9	97	0	0	0	1	0	9	97				
IBTK	25998	broad.mit.edu	37	6	82943951	82943951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:82943951G>A	ENST00000306270.7	-	3	892	c.343C>T	c.(343-345)Caa>Taa	p.Q115*	IBTK_ENST00000510291.1_Nonsense_Mutation_p.Q115*|IBTK_ENST00000503631.1_Nonsense_Mutation_p.Q115*	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	115					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTTTATCTTGAATATACAGA	0.289																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(343-345)Caa>Taa		inhibitor of Bruton agammaglobulinemia tyrosine kinase							82.0	85.0	84.0					6																	82943951		2203	4300	6503	SO:0001587	stop_gained	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82943951G>A	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.343C>T	6.37:g.82943951G>A	ENSP00000305721:p.Gln115*					IBTK_ENST00000510291.1_Nonsense_Mutation_p.Q115*|IBTK_ENST00000503631.1_Nonsense_Mutation_p.Q115*	p.Q115*	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	3	892	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	115					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Nonsense_Mutation	SNP	ENST00000306270.7	37	c.343C>T	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	36	5.921218	0.97105	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	5.5	5.5	0.81552	.	0.176805	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7817	19.4336	0.94781	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000305721:Q115X	Q	-	1	0	IBTK	83000670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.522000	0.81844	2.596000	0.87737	0.579000	0.79373	CAA		0.289	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		11	73	0	0	0	1	0	11	73				
NES	10763	broad.mit.edu	37	1	156641510	156641510	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156641510C>T	ENST00000368223.3	-	4	2602	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	824	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTAGGATCTCTGTTTCTAAA	0.413																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2470-2472)Gag>Aag		nestin							119.0	109.0	112.0					1																	156641510		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641510C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2470G>A	1.37:g.156641510C>T	ENSP00000357206:p.Glu824Lys						p.E824K	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2602	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		824			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2470G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500596	0.44455	.	.	ENSG00000132688	ENST00000368223	D	0.89746	-2.56	5.68	1.64	0.23874	.	0.240647	0.21571	N	0.072416	T	0.73385	0.3580	L	0.54323	1.7	0.09310	N	1	B	0.26195	0.144	B	0.21708	0.036	T	0.67783	-0.5581	10	0.87932	D	0	.	6.6915	0.23174	0.0:0.6469:0.1282:0.2248	.	824	P48681	NEST_HUMAN	K	824	ENSP00000357206:E824K	ENSP00000357206:E824K	E	-	1	0	NES	154908134	0.002000	0.14202	0.008000	0.14137	0.010000	0.07245	0.511000	0.22739	0.330000	0.23485	0.563000	0.77884	GAG		0.413	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		7	58	0	0	0	1	0	7	58				
AP2B1	163	broad.mit.edu	37	17	34050652	34050652	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:34050652G>A	ENST00000262325.7	+	21	3301	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	AP2B1_ENST00000592545.1_Silent_p.L892L|AP2B1_ENST00000538556.1_Silent_p.L859L|AP2B1_ENST00000589344.1_Silent_p.L930L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.L930L|AP2B1_ENST00000312678.8_Silent_p.L930L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	916	Interaction with ARRB1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTGTCACTGAAGTGTAGAG	0.423																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2746-2748)ctG>ctA		adaptor-related protein complex 2, beta 1 subunit							140.0	117.0	125.0					17																	34050652		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34050652G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2748G>A	17.37:g.34050652G>A						AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Silent_p.L930L|AP2B1_ENST00000589344.1_Silent_p.L930L|AP2B1_ENST00000538556.1_Silent_p.L859L|AP2B1_ENST00000592545.1_Silent_p.L892L|AP2B1_ENST00000537622.2_Silent_p.L930L	p.L916L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	21	3301	+		Ovarian(249;0.17)	916			Interaction with ARRB1.		A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.2748G>A	CCDS32622.1																																																																																				0.423	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	61	0	0	0	1	0	4	61				
SHC1	6464	broad.mit.edu	37	1	154942846	154942846	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:154942846C>T	ENST00000368445.5	-	1	371	c.157G>A	c.(157-159)Gat>Aat	p.D53N	SHC1_ENST00000368450.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.D53N|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	53					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGGGACTATCGTCCCCAGGC	0.672																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(157-159)Gat>Aat		SHC (Src homology 2 domain containing) transforming protein 1							21.0	23.0	22.0					1																	154942846		2196	4292	6488	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942846C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.157G>A	1.37:g.154942846C>T	ENSP00000357430:p.Asp53Asn					SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.D53N|SHC1_ENST00000368450.1_Intron	p.D53N	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	377	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		53					B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.157G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321314	0.41096	.	.	ENSG00000160691	ENST00000368445;ENST00000448116	T;T	0.49432	0.78;0.78	4.37	3.45	0.39498	.	0.581982	0.17751	N	0.163250	T	0.13756	0.0333	N	0.10972	0.075	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04737	-1.0930	10	0.34782	T	0.22	.	11.5808	0.50889	0.0:0.9115:0.0:0.0885	.	53;53	P29353-6;P29353	.;SHC1_HUMAN	N	53	ENSP00000357430:D53N;ENSP00000401303:D53N	ENSP00000357430:D53N	D	-	1	0	SHC1	153209470	1.000000	0.71417	0.956000	0.39512	0.902000	0.53008	2.200000	0.42724	1.184000	0.42957	0.555000	0.69702	GAT		0.672	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		9	64	0	0	0	1	0	9	64				
C11orf88	399949	broad.mit.edu	37	11	111386771	111386771	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:111386771G>C	ENST00000375618.4	+	3	275	c.275G>C	c.(274-276)aGa>aCa	p.R92T	C11orf88_ENST00000529167.1_Missense_Mutation_p.R92T|RP11-794P6.6_ENST00000530283.1_RNA|MIR34C_ENST00000384831.1_RNA|C11orf88_ENST00000332814.6_Missense_Mutation_p.R92T	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	92										endometrium(1)|large_intestine(3)|lung(2)	6						CTAGAAAATAGAGACATCTTT	0.318																																						ENST00000529167.1																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.(274-276)aGa>aCa		chromosome 11 open reading frame 88							69.0	68.0	68.0					11																	111386771		1787	4053	5840	SO:0001583	missense	399949							g.chr11:111386771G>C	BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.275G>C	11.37:g.111386771G>C	ENSP00000364768:p.Arg92Thr					C11orf88_ENST00000332814.6_Missense_Mutation_p.R92T|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.R92T	p.R92T			Q6PI97	CK088_HUMAN			3	275	+			92					E9PAN0|Q6ZRL3	Missense_Mutation	SNP	ENST00000375618.4	37	c.275G>C	CCDS41713.1	.	.	.	.	.	.	.	.	.	.	G	1.004	-0.690006	0.03328	.	.	ENSG00000183644	ENST00000375618;ENST00000529167;ENST00000332814	.	.	.	4.55	-6.1	0.02138	.	2.335390	0.01506	N	0.017701	T	0.23649	0.0572	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.001	T	0.06588	-1.0818	9	0.29301	T	0.29	3.5967	1.28	0.02039	0.4089:0.1698:0.2548:0.1666	.	92;92	E9PAN0;Q6PI97	.;CK088_HUMAN	T	92	.	ENSP00000333845:R92T	R	+	2	0	C11orf88	110891981	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.807000	0.04520	-0.918000	0.03808	-0.253000	0.11424	AGA		0.318	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388		11	80	0	0	0	1	0	11	80				
FAN1	22909	broad.mit.edu	37	15	31210382	31210382	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:31210382G>A	ENST00000362065.4	+	6	2118	c.1827G>A	c.(1825-1827)acG>acA	p.T609T		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	609					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CAGCAGCCACGCACATGCTGA	0.468								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1825-1827)acG>acA	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							112.0	108.0	109.0					15																	31210382		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31210382G>A		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1827G>A	15.37:g.31210382G>A							p.T609T	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			6	2118	+			609					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.1827G>A	CCDS32186.1																																																																																				0.468	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		4	120	0	0	0	1	0	4	120				
RSL1D1	26156	broad.mit.edu	37	16	11940376	11940376	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:11940376G>C	ENST00000571133.1	-	5	689	c.617C>G	c.(616-618)tCt>tGt	p.S206C	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	206					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.S206F(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCACTTTTAGAAATGTTTAA	0.323																																						ENST00000571133.1																			1	Substitution - Missense(1)	p.S206F(1)	breast(1)	NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(616-618)tCt>tGt		ribosomal L1 domain containing 1							92.0	90.0	90.0					16																	11940376		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11940376G>C	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.617C>G	16.37:g.11940376G>C	ENSP00000460871:p.Ser206Cys					RSL1D1_ENST00000542106.1_5'UTR	p.S206C	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			5	689	-			206					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.617C>G	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629484	0.67015	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.46451	0.87	5.33	5.33	0.75918	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.243688	0.41294	D	0.000907	T	0.68329	0.2989	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.73956	-0.3819	10	0.87932	D	0	-19.4715	15.7704	0.78164	0.0:0.0:1.0:0.0	.	206;206	Q32Q62;O76021	.;RL1D1_HUMAN	C	206	ENSP00000347897:S206C	ENSP00000347897:S206C	S	-	2	0	RSL1D1	11847877	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	2.719000	0.47244	2.502000	0.84385	0.555000	0.69702	TCT		0.323	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		13	70	0	0	0	1	0	13	70				
ATM	472	broad.mit.edu	37	11	108196176	108196176	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:108196176G>C	ENST00000452508.2	+	47	6901	c.6712G>C	c.(6712-6714)Gaa>Caa	p.E2238Q	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2238Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2238	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GATGGAAAAGGAAATGGACAA	0.423			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6712-6714)Gaa>Caa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							131.0	127.0	129.0					11																	108196176		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108196176G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6712G>C	11.37:g.108196176G>C	ENSP00000388058:p.Glu2238Gln	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.E2238Q|C11orf65_ENST00000525729.1_Intron	p.E2238Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	46	7097	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2238			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6712G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566824	0.28003	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01548	4.78;4.78	5.06	3.1	0.35709	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.266958	0.41938	N	0.000800	T	0.02767	0.0083	M	0.63428	1.95	0.80722	D	1	B	0.33883	0.43	B	0.36567	0.228	T	0.55036	-0.8203	10	0.18710	T	0.47	.	10.2623	0.43434	0.0743:0.1366:0.789:0.0	.	2238	Q13315	ATM_HUMAN	Q	2238	ENSP00000278616:E2238Q;ENSP00000388058:E2238Q	ENSP00000278616:E2238Q	E	+	1	0	ATM	107701386	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	2.755000	0.47540	0.580000	0.29522	0.655000	0.94253	GAA		0.423	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		12	88	0	0	0	1	0	12	88				
CPS1	1373	broad.mit.edu	37	2	211473236	211473236	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:211473236C>T	ENST00000233072.5	+	19	2540	c.2344C>T	c.(2344-2346)Cat>Tat	p.H782Y	CPS1_ENST00000451903.2_Missense_Mutation_p.H331Y|CPS1_ENST00000430249.2_Missense_Mutation_p.H788Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	782					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGACCGTTTTCATGGAACATC	0.423																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2344-2346)Cat>Tat		carbamoyl-phosphate synthase 1, mitochondrial							133.0	128.0	130.0					2																	211473236		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211473236C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2344C>T	2.37:g.211473236C>T	ENSP00000233072:p.His782Tyr					CPS1_ENST00000451903.2_Missense_Mutation_p.H331Y|CPS1_ENST00000430249.2_Missense_Mutation_p.H788Y	p.H782Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	19	2540	+			782					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2344C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225668	0.79576	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.95307	-3.67;-3.67;-3.67	5.86	5.86	0.93980	ATP-grasp fold, subdomain 2 (1);	0.099834	0.64402	D	0.000001	D	0.89955	0.6865	L	0.31294	0.92	0.58432	D	0.999992	P;P	0.43826	0.818;0.818	B;B	0.31290	0.127;0.127	D	0.90456	0.4442	10	0.56958	D	0.05	-15.5002	20.5632	0.99335	0.0:1.0:0.0:0.0	.	792;782	Q59HF8;P31327	.;CPSM_HUMAN	Y	788;790;782;331	ENSP00000402608:H788Y;ENSP00000233072:H782Y;ENSP00000406136:H331Y	ENSP00000233072:H782Y	H	+	1	0	CPS1	211181481	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	CAT		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			19	97	0	0	0	1	0	19	97				
ZNF197	10168	broad.mit.edu	37	3	44684657	44684657	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:44684657G>A	ENST00000396058.1	+	5	2202	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.E679K|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAATCTCTATGAATGTAAAGA	0.418																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(2035-2037)Gaa>Aaa		zinc finger protein 197							59.0	62.0	61.0					3																	44684657		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684657G>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2035G>A	3.37:g.44684657G>A	ENSP00000379370:p.Glu679Lys					ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.E679K	p.E679K			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	2202	+			679					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.2035G>A	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223364	0.39300	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.06608	3.28;3.28	4.39	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35870	U	0.002928	T	0.01523	0.0049	N	0.01009	-1.055	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.46762	-0.9168	10	0.07325	T	0.83	.	3.4933	0.07646	0.277:0.204:0.519:0.0	.	679	O14709	ZN197_HUMAN	K	679	ENSP00000345809:E679K;ENSP00000379370:E679K	ENSP00000345809:E679K	E	+	1	0	ZNF197	44659661	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.359000	0.07632	1.190000	0.43042	0.557000	0.71058	GAA		0.418	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		5	55	0	0	0	1	0	5	55				
INSRR	3645	broad.mit.edu	37	1	156821767	156821767	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156821767G>A	ENST00000368195.3	-	3	1250	c.854C>T	c.(853-855)tCt>tTt	p.S285F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	285					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCGGGCACAGAGTGCAGGCT	0.642																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(853-855)tCt>tTt		insulin receptor-related receptor							28.0	25.0	26.0					1																	156821767		2203	4299	6502	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821767G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.854C>T	1.37:g.156821767G>A	ENSP00000357178:p.Ser285Phe					NTRK1_ENST00000392302.2_Intron	p.S285F	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			3	1250	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		285					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.854C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633278	0.29068	.	.	ENSG00000027644	ENST00000368195	D	0.84589	-1.87	4.62	3.68	0.42216	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	1.042650	0.07626	N	0.927871	T	0.69477	0.3115	.	.	.	0.37045	D	0.897304	B	0.29270	0.24	B	0.41088	0.347	T	0.55366	-0.8152	9	0.10111	T	0.7	.	10.4015	0.44233	0.0:0.0:0.5029:0.497	.	285	P14616	INSRR_HUMAN	F	285	ENSP00000357178:S285F	ENSP00000357178:S285F	S	-	2	0	INSRR	155088391	0.199000	0.23386	0.458000	0.27068	0.859000	0.49053	2.466000	0.45084	1.120000	0.41904	0.456000	0.33151	TCT		0.642	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		7	36	0	0	0	1	0	7	36				
DNAH11	8701	broad.mit.edu	37	7	21757447	21757447	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:21757447G>C	ENST00000409508.3	+	43	7069	c.7038G>C	c.(7036-7038)ttG>ttC	p.L2346F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L2353F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2353	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGCCAATTTGACTATTCTTT	0.398									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(7057-7059)ttG>ttC		dynein, axonemal, heavy chain 11							138.0	136.0	136.0					7																	21757447		1880	4091	5971	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21757447G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7038G>C	7.37:g.21757447G>C	ENSP00000475939:p.Leu2346Phe					DNAH11_ENST00000409508.3_Missense_Mutation_p.L2346F	p.L2353F			Q96DT5	DYH11_HUMAN			44	7090	+			2353			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7059G>C		.	.	.	.	.	.	.	.	.	.	G	16.92	3.255026	0.59321	.	.	ENSG00000105877	ENST00000328843	T	0.35236	1.32	5.82	0.352	0.16051	.	0.191871	0.37304	N	0.002147	T	0.53594	0.1806	.	.	.	0.46478	D	0.999066	D	0.89917	1.0	D	0.87578	0.998	T	0.50440	-0.8828	9	0.44086	T	0.13	.	9.7342	0.40377	0.4535:0.0:0.5465:0.0	.	2353	Q96DT5	DYH11_HUMAN	F	2353	ENSP00000330671:L2353F	ENSP00000330671:L2353F	L	+	3	2	DNAH11	21723972	0.999000	0.42202	0.994000	0.49952	0.981000	0.71138	0.441000	0.21611	0.127000	0.18452	-0.484000	0.04775	TTG		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		11	69	0	0	0	1	0	11	69				
WDR81	124997	broad.mit.edu	37	17	1634467	1634467	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:1634467G>A	ENST00000409644.1	+	4	4072	c.4072G>A	c.(4072-4074)Gac>Aac	p.D1358N	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.D155N|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000419248.1_Missense_Mutation_p.D131N|WDR81_ENST00000309182.5_Missense_Mutation_p.D307N	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1358					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTACCTCTCAGACACCACACT	0.652																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4072-4074)Gac>Aac		WD repeat domain 81							75.0	59.0	64.0					17																	1634467		2203	4300	6503	SO:0001583	missense	124997							g.chr17:1634467G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4072G>A	17.37:g.1634467G>A	ENSP00000386609:p.Asp1358Asn					WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000419248.1_Missense_Mutation_p.D131N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000437219.2_Missense_Mutation_p.D155N|WDR81_ENST00000309182.5_Missense_Mutation_p.D307N	p.D1358N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	4072	+			131					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4072G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	35	5.457539	0.96240	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644;ENST00000354680	T;T;T;T	0.64260	1.75;1.62;1.78;-0.09	5.82	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.74467	2.265	0.80722	D	1	B;D;D	0.89917	0.041;1.0;1.0	B;D;D	0.83275	0.024;0.996;0.984	T	0.80986	-0.1137	10	0.72032	D	0.01	.	13.9838	0.64321	0.0724:0.0:0.9276:0.0	.	155;485;307	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	N	155;155;307;131;1358;109	ENSP00000391074:D155N;ENSP00000312074:D307N;ENSP00000407845:D131N;ENSP00000386609:D1358N	ENSP00000312074:D307N	D	+	1	0	WDR81	1581217	1.000000	0.71417	0.891000	0.34965	0.984000	0.73092	9.390000	0.97246	1.477000	0.48234	-0.136000	0.14681	GAC		0.652	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		10	49	0	0	0	1	0	10	49				
SMARCA1	6594	broad.mit.edu	37	X	128642066	128642066	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:128642066A>C	ENST00000371122.4	-	7	947	c.818T>G	c.(817-819)tTt>tGt	p.F273C	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Missense_Mutation_p.F273C|SMARCA1_ENST00000371121.3_Missense_Mutation_p.F273C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	273	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATCACGAATAAAAGCAGCCTA	0.274																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(817-819)tTt>tGt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							26.0	24.0	24.0					X																	128642066		2203	4295	6498	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128642066A>C	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.818T>G	X.37:g.128642066A>C	ENSP00000360163:p.Phe273Cys					SMARCA1_ENST00000371123.1_Missense_Mutation_p.F273C|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.F273C	p.F273C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			7	947	-			273			Helicase ATP-binding.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.818T>G	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961844	0.74016	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	5.53	5.53	0.82687	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000002	D	0.92685	0.7675	N	0.25957	0.775	0.58432	D	0.999995	D;D;D;D	0.67145	0.996;0.996;0.995;0.996	D;D;D;D	0.67231	0.95;0.95;0.917;0.95	D	0.93885	0.7174	10	0.87932	D	0	-16.4835	14.8541	0.70323	1.0:0.0:0.0:0.0	.	252;273;273;273	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	C	273;273;273;252	ENSP00000360162:F273C;ENSP00000360164:F273C;ENSP00000360163:F273C;ENSP00000404275:F252C	ENSP00000360162:F273C	F	-	2	0	SMARCA1	128469747	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.287000	0.95975	1.958000	0.56883	0.441000	0.28932	TTT		0.274	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		6	31	0	0	0	1	0	6	31				
DNAH2	146754	broad.mit.edu	37	17	7636531	7636531	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:7636531G>A	ENST00000572933.1	+	5	1986	c.526G>A	c.(526-528)Ggt>Agt	p.G176S	DNAH2_ENST00000082259.3_Missense_Mutation_p.G176S|DNAH2_ENST00000570791.1_Missense_Mutation_p.G176S|DNAH2_ENST00000389173.2_Missense_Mutation_p.G176S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	176	Stem. {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)				TCGGCTGCTCGGTGGAGTCTT	0.562																																						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.(526-528)Ggt>Agt		dynein, axonemal, heavy chain 2							90.0	87.0	88.0					17																	7636531		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.chr17:7636531G>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.526G>A	17.37:g.7636531G>A	ENSP00000458355:p.Gly176Ser					DNAH2_ENST00000389173.2_Missense_Mutation_p.G176S|DNAH2_ENST00000570791.1_Missense_Mutation_p.G176S|DNAH2_ENST00000082259.3_Missense_Mutation_p.G176S	p.G176S			Q9P225	DYH2_HUMAN			5	1986	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	176			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.526G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	1.303	-0.604358	0.03717	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.39229	1.09;1.09	5.42	3.19	0.36642	.	0.854640	0.09892	N	0.742297	T	0.16171	0.0389	N	0.01729	-0.75	0.20638	N	0.999872	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21895	-1.0232	10	0.06494	T	0.89	.	9.4211	0.38553	0.85:0.0:0.15:0.0	.	176;176	Q9P225;Q9P225-3	DYH2_HUMAN;.	S	176	ENSP00000373825:G176S;ENSP00000082259:G176S	ENSP00000082259:G176S	G	+	1	0	DNAH2	7577256	0.998000	0.40836	0.444000	0.26895	0.579000	0.36224	3.924000	0.56476	0.357000	0.24183	-0.415000	0.06103	GGT		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	161	0	0	0	1	0	4	161				
WDSUB1	151525	broad.mit.edu	37	2	160136314	160136314	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:160136314G>C	ENST00000409990.3	-	3	797	c.541C>G	c.(541-543)Ctt>Gtt	p.L181V	WDSUB1_ENST00000359774.4_Missense_Mutation_p.L181V|WDSUB1_ENST00000409124.1_Missense_Mutation_p.L181V|WDSUB1_ENST00000358147.4_Missense_Mutation_p.L181V|WDSUB1_ENST00000392796.3_Missense_Mutation_p.L181V	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	181							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTAATTCCAAGATCATGTGCT	0.378																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(541-543)Ctt>Gtt		WD repeat, sterile alpha motif and U-box domain containing 1							85.0	83.0	84.0					2																	160136314		2203	4300	6503	SO:0001583	missense	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160136314G>C	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.541C>G	2.37:g.160136314G>C	ENSP00000387078:p.Leu181Val					WDSUB1_ENST00000358147.4_Missense_Mutation_p.L181V|WDSUB1_ENST00000409124.1_Missense_Mutation_p.L181V|WDSUB1_ENST00000392796.3_Missense_Mutation_p.L181V|WDSUB1_ENST00000359774.4_Missense_Mutation_p.L181V	p.L181V	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN			3	797	-			181					Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	c.541C>G	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200358	0.79015	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.65	5.65	0.86999	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	T	0.69628	0.3132	L	0.54908	1.71	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.85130	0.997;0.914;0.969	T	0.65817	-0.6076	10	0.31617	T	0.26	.	12.9904	0.58616	0.0739:0.0:0.9261:0.0	.	181;181;181	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	V	181	ENSP00000352820:L181V;ENSP00000350866:L181V;ENSP00000376545:L181V;ENSP00000387078:L181V;ENSP00000386891:L181V	ENSP00000350866:L181V	L	-	1	0	WDSUB1	159844560	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.119000	0.71590	2.645000	0.89757	0.557000	0.71058	CTT		0.378	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		10	62	0	0	0	1	0	10	62				
GPHA2	170589	broad.mit.edu	37	11	64702545	64702545	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:64702545C>T	ENST00000279168.2	-	3	260	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	GPHA2_ENST00000532246.1_Missense_Mutation_p.R69Q|GPHA2_ENST00000533257.1_Missense_Mutation_p.R69Q	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	69						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						CACAGAGTACCGAGAAGGGAA	0.622																																						ENST00000279168.2																			0				central_nervous_system(1)|endometrium(1)|prostate(1)	3						c.(205-207)cGg>cAg		glycoprotein hormone alpha 2							91.0	84.0	86.0					11																	64702545		2201	4297	6498	SO:0001583	missense	170589					extracellular region	hormone activity	g.chr11:64702545C>T	AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"""glycoprotein alpha 2"", ""cysteine knot protein"""	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.206G>A	11.37:g.64702545C>T	ENSP00000279168:p.Arg69Gln					GPHA2_ENST00000532246.1_Missense_Mutation_p.R69Q|GPHA2_ENST00000533257.1_Missense_Mutation_p.R69Q	p.R69Q	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN			3	260	-			69					Q52LE2	Missense_Mutation	SNP	ENST00000279168.2	37	c.206G>A	CCDS8086.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230930	0.79688	.	.	ENSG00000149735	ENST00000279168;ENST00000533257;ENST00000532246	T;T	0.28454	1.61;1.61	4.17	4.17	0.49024	Cystine knot, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.28366	0.0701	L	0.57536	1.79	0.43103	D	0.994795	P	0.50710	0.938	B	0.42386	0.386	T	0.03969	-1.0988	10	0.39692	T	0.17	.	8.0443	0.30540	0.0:0.891:0.0:0.109	.	69	Q96T91	GPHA2_HUMAN	Q	69	ENSP00000279168:R69Q;ENSP00000432918:R69Q	ENSP00000279168:R69Q	R	-	2	0	GPHA2	64459121	0.991000	0.36638	0.974000	0.42286	0.975000	0.68041	2.089000	0.41672	2.333000	0.79357	0.655000	0.94253	CGG		0.622	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385470.1	NM_130769		27	113	0	0	0	1	0	27	113				
NBEA	26960	broad.mit.edu	37	13	35733543	35733543	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:35733543G>A	ENST00000400445.3	+	22	3769	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	NBEA_ENST00000540320.1_Missense_Mutation_p.E1079K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1079K|NBEA_ENST00000310336.4_Missense_Mutation_p.E1079K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1079					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTATCACCGGAGACTTTAGT	0.398																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3235-3237)Gag>Aag		neurobeachin							126.0	120.0	122.0					13																	35733543		1877	4107	5984	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733543G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3235G>A	13.37:g.35733543G>A	ENSP00000383295:p.Glu1079Lys					NBEA_ENST00000310336.4_Missense_Mutation_p.E1079K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1079K|NBEA_ENST00000400445.3_Missense_Mutation_p.E1079K	p.E1079K			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	3769	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1079					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.3235G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279272	0.59758	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.09	5.09	0.68999	.	0.130255	0.49305	D	0.000153	T	0.42017	0.1184	N	0.19112	0.55	0.80722	D	1	B	0.22276	0.067	B	0.21360	0.034	T	0.30707	-0.9969	10	0.51188	T	0.08	.	18.4855	0.90827	0.0:0.0:1.0:0.0	.	1079	Q5T321	.	K	1079	ENSP00000440951:E1079K;ENSP00000383295:E1079K;ENSP00000369271:E1079K;ENSP00000308534:E1079K	ENSP00000308534:E1079K	E	+	1	0	NBEA	34631543	1.000000	0.71417	0.996000	0.52242	0.832000	0.47134	9.230000	0.95299	2.370000	0.80446	0.555000	0.69702	GAG		0.398	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		6	45	0	0	0	1	0	6	45				
TPRG1L	127262	broad.mit.edu	37	1	3545080	3545080	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:3545080C>T	ENST00000378344.2	+	5	803	c.732C>T	c.(730-732)ctC>ctT	p.L244L	TPRG1L_ENST00000344579.5_Silent_p.L185L	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	244						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)		p.L244L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GCCCCCTGCTCATCGAGACCT	0.532																																						ENST00000378344.2																			1	Substitution - coding silent(1)	p.L244L(1)	kidney(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8						c.(730-732)ctC>ctT		tumor protein p63 regulated 1-like							74.0	68.0	70.0					1																	3545080		2202	4300	6502	SO:0001819	synonymous_variant	127262					cell junction|synaptic vesicle		g.chr1:3545080C>T	BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.732C>T	1.37:g.3545080C>T						TPRG1L_ENST00000344579.5_Silent_p.L185L	p.L244L	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	5	803	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	244					A8K1K4|Q8WV04	Silent	SNP	ENST00000378344.2	37	c.732C>T	CCDS47.1																																																																																				0.532	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		5	45	0	0	0	1	0	5	45				
CHRNB1	1140	broad.mit.edu	37	17	7360041	7360041	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:7360041G>A	ENST00000306071.2	+	11	1572	c.1505G>A	c.(1504-1506)tGa>tAa	p.*502*	CHRNB1_ENST00000575379.1_Silent_p.*38*|CHRNB1_ENST00000536404.2_Silent_p.*430*|CHRNB1_ENST00000576360.1_Silent_p.*381*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	0					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CCCTTTCCTTGAAGACTGGAG	0.552																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(1504-1506)tGa>tAa		cholinergic receptor, nicotinic, beta 1 (muscle)							74.0	64.0	67.0					17																	7360041		2203	4300	6503	SO:0001819	synonymous_variant	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7360041G>A	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1505G>A	17.37:g.7360041G>A						CHRNB1_ENST00000536404.2_Silent_p.*430*|CHRNB1_ENST00000575379.1_Silent_p.*38*|CHRNB1_ENST00000576360.1_Silent_p.*381*	p.*502*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			11	1572	+		Prostate(122;0.157)	0					B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	c.1505G>A	CCDS11106.1																																																																																				0.552	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			8	65	0	0	0	1	0	8	65				
TM2D2	83877	broad.mit.edu	37	8	38853766	38853766	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:38853766C>T	ENST00000456397.2	-	1	286	c.193G>A	c.(193-195)Gac>Aac	p.D65N	TM2D2_ENST00000412303.1_Intron|ADAM9_ENST00000466936.1_5'Flank|ADAM9_ENST00000481513.1_5'Flank|TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000456845.2_Intron|ADAM9_ENST00000487273.2_5'Flank|TM2D2_ENST00000522434.1_Intron	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	65						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GAGTGGGGGTCGCCATATTCC	0.642																																						ENST00000456397.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(193-195)Gac>Aac		TM2 domain containing 2							33.0	38.0	36.0					8																	38853766		2203	4300	6503	SO:0001583	missense	83877					integral to membrane		g.chr8:38853766C>T	AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.193G>A	8.37:g.38853766C>T	ENSP00000416050:p.Asp65Asn					TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000456845.2_Intron	p.D65N	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		1	286	-		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	65					B2RBK4|D3DSX8|Q8N0X9	Missense_Mutation	SNP	ENST00000456397.2	37	c.193G>A	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741469	0.69304	.	.	ENSG00000169490	ENST00000456397	.	.	.	5.78	5.78	0.91487	.	0.137391	0.64402	D	0.000003	T	0.37571	0.1008	N	0.16708	0.43	0.80722	D	1	P	0.50943	0.94	B	0.43251	0.413	T	0.23048	-1.0199	9	0.06757	T	0.87	-25.0535	17.7752	0.88505	0.0:1.0:0.0:0.0	.	65	Q9BX73	TM2D2_HUMAN	N	65	.	ENSP00000416050:D65N	D	-	1	0	TM2D2	38972923	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.873000	0.63057	2.738000	0.93877	0.655000	0.94253	GAC		0.642	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940		6	75	0	0	0	1	0	6	75				
NIPBL	25836	broad.mit.edu	37	5	37059151	37059151	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059151G>T	ENST00000282516.8	+	44	8068	c.7569G>T	c.(7567-7569)atG>atT	p.M2523I	NIPBL_ENST00000448238.2_Missense_Mutation_p.M2523I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2523					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCAGTGATGAAATGTTTGC	0.368																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7567-7569)atG>atT		Nipped-B homolog (Drosophila)							105.0	110.0	108.0					5																	37059151		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37059151G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7569G>T	5.37:g.37059151G>T	ENSP00000282516:p.Met2523Ile					NIPBL_ENST00000448238.2_Missense_Mutation_p.M2523I	p.M2523I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		44	8068	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2523					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7569G>T	CCDS3920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.413630|3.413630	0.62511|0.62511	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000282516;ENST00000448238;ENST00000513819|ENST00000507919	D;D;T|.	0.93189|.	-3.18;-3.17;-1.2|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.042915|.	0.85682|.	D|.	0.000000|.	T|.	0.70395|.	0.3219|.	L|L	0.59436|0.59436	1.845|1.845	0.49483|0.49483	D|D	0.999791|0.999791	B;B;B|.	0.17038|.	0.007;0.02;0.02|.	B;B;B|.	0.13407|.	0.002;0.002;0.009|.	T|.	0.67546|.	-0.5643|.	10|.	0.28530|.	T|.	0.3|.	-9.9034|-9.9034	14.9344|14.9344	0.70941|0.70941	0.0:0.0:0.857:0.143|0.0:0.0:0.857:0.143	.|.	2523;2523;2523|.	Q6IEH8;Q6KC79;Q6KC79-2|.	.;NIPBL_HUMAN;.|.	I|L	2523;2523;49|29	ENSP00000282516:M2523I;ENSP00000406266:M2523I;ENSP00000421504:M49I|.	ENSP00000282516:M2523I|.	M|X	+|+	3|2	0|2	NIPBL|NIPBL	37094908|37094908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.469000|7.469000	0.80959|0.80959	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	ATG|TGA		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		11	69	1	0	2.80697e-09	1	2.92032e-09	11	69				
ITPR3	3710	broad.mit.edu	37	6	33638303	33638303	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:33638303C>G	ENST00000374316.5	+	20	3451	c.2391C>G	c.(2389-2391)gtC>gtG	p.V797V	ITPR3_ENST00000605930.1_Silent_p.V797V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	797					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCACGCCGGTCAAGTTTGCCC	0.652																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2389-2391)gtC>gtG		inositol 1,4,5-trisphosphate receptor, type 3							75.0	68.0	70.0					6																	33638303		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33638303C>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2391C>G	6.37:g.33638303C>G						ITPR3_ENST00000605930.1_Silent_p.V797V	p.V797V			Q14573	ITPR3_HUMAN			20	3451	+			797					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.2391C>G	CCDS4783.1																																																																																				0.652	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		17	129	0	0	0	1	0	17	129				
MIR331	442903	broad.mit.edu	37	12	95702245	95702245	+	RNA	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:95702245G>A	ENST00000362302.1	+	0	50				MIR3685_ENST00000579373.1_RNA	NR_029895.1				microRNA 331																		AGGGATCCCAGATCAAACCAG	0.502																																						ENST00000362302.1																			0																				95.0	86.0	88.0					12																	95702245		1568	3582	5150			442903							g.chr12:95702245G>A			12q22	2011-09-12		2008-12-18	ENSG00000199172	ENSG00000199172		"""ncRNAs / Micro RNAs"""	31772	non-coding RNA	RNA, micro				MIRN331			Standard	NR_029895		Approved	hsa-mir-331	uc001tea.1				12.37:g.95702245G>A								NR_029895.1						0	50	+									RNA	SNP	ENST00000362302.1	37																																																																																						0.502	MIR331-201	KNOWN	basic	miRNA	miRNA		NR_029895		3	11	0	0	0	1	0	3	11				
GUSB	2990	broad.mit.edu	37	7	65435343	65435343	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:65435343C>T	ENST00000304895.4	-	9	1532	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	GUSB_ENST00000421103.1_Missense_Mutation_p.A322T|GUSB_ENST00000345660.6_Missense_Mutation_p.A417T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	468					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGGTGTGAGCGATCACCATC	0.572																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(1402-1404)Gct>Act		glucuronidase, beta							85.0	83.0	84.0					7																	65435343		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65435343C>T	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1402G>A	7.37:g.65435343C>T	ENSP00000302728:p.Ala468Thr					GUSB_ENST00000421103.1_Missense_Mutation_p.A322T|GUSB_ENST00000345660.6_Missense_Mutation_p.A417T	p.A468T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			9	1532	-			468					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1402G>A	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106648	0.08780	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95821	-3.82;-3.82;-3.82	4.68	-1.99	0.07457	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.958632	0.08763	N	0.897413	D	0.90424	0.7002	L	0.50333	1.59	0.19775	N	0.999957	B;B	0.26708	0.157;0.0	B;B	0.18263	0.021;0.001	T	0.77262	-0.2653	10	0.19147	T	0.46	.	5.3881	0.16229	0.1235:0.5286:0.0:0.3479	.	322;468	E9PCV0;P08236	.;BGLR_HUMAN	T	468;322;417	ENSP00000302728:A468T;ENSP00000391390:A322T;ENSP00000340734:A417T	ENSP00000302728:A468T	A	-	1	0	GUSB	65072778	0.000000	0.05858	0.838000	0.33150	0.150000	0.21749	-0.172000	0.09868	-0.678000	0.05224	-2.978000	0.00080	GCT		0.572	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		12	65	0	0	0	1	0	12	65				
FLT4	2324	broad.mit.edu	37	5	180048648	180048648	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:180048648C>G	ENST00000261937.6	-	13	1992	c.1914G>C	c.(1912-1914)ctG>ctC	p.L638L	FLT4_ENST00000393347.3_Silent_p.L638L|FLT4_ENST00000502649.1_Silent_p.L638L|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	638	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGGATACTCAGGCTGAGCG	0.662																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1912-1914)ctG>ctC		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						27.0	26.0	26.0					5																	180048648		2202	4296	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048648C>G	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1914G>C	5.37:g.180048648C>G						FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.L638L|FLT4_ENST00000393347.3_Silent_p.L638L	p.L638L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1992	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	638			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1914G>C	CCDS4457.1																																																																																				0.662	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			7	43	0	0	0	1	0	7	43				
CACNA1A	773	broad.mit.edu	37	19	13341014	13341014	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:13341014G>A	ENST00000360228.5	-	36	5409	c.5410C>T	c.(5410-5412)Ctc>Ttc	p.L1804F	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1805					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGACAAAGAGATTCAGCATC	0.572																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5410-5412)Ctc>Ttc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						79.0	87.0	84.0					19																	13341014		2072	4226	6298	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13341014G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5410C>T	19.37:g.13341014G>A	ENSP00000353362:p.Leu1804Phe					CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805F	p.L1804F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		36	5409	-			1805					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5410C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422933	0.62733	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.99282	-5.68	4.33	4.33	0.51752	Ion transport (1);	0.000000	0.64402	D	0.000017	D	0.99736	0.9896	H	0.99642	4.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.96709	0.9524	10	0.87932	D	0	.	15.5941	0.76566	0.0:0.0:1.0:0.0	.	1805;1810;1804;1805	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	F	1804;1810;1805;1805	ENSP00000353362:L1804F	ENSP00000317661:L1805F	L	-	1	0	CACNA1A	13202014	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.760000	0.98935	1.968000	0.57251	0.549000	0.68633	CTC		0.572	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	49	0	0	0	1	0	4	49				
NAGPA	51172	broad.mit.edu	37	16	5083377	5083377	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:5083377C>T	ENST00000312251.3	-	2	458	c.439G>A	c.(439-441)Gag>Aag	p.E147K	ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.E147K|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	147					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCAGGCACTCGCCCGAGTTC	0.736																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(439-441)Gag>Aag		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						8.0	10.0	9.0					16																	5083377		1864	3782	5646	SO:0001583	missense	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083377C>T	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.439G>A	16.37:g.5083377C>T	ENSP00000310998:p.Glu147Lys					NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.E147K	p.E147K	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	458	-			147					B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	c.439G>A	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848074	0.32699	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.29142	1.58;1.8	4.77	3.78	0.43462	.	0.516231	0.21663	N	0.070986	T	0.24314	0.0589	L	0.36672	1.1	0.31909	N	0.614892	D;B;P	0.59767	0.986;0.334;0.901	P;B;B	0.45099	0.469;0.058;0.182	T	0.14587	-1.0467	10	0.17832	T	0.49	-18.9654	9.905	0.41370	0.0:0.8982:0.0:0.1018	.	147;147;147	B4DZG9;Q9UK23;Q9UK23-2	.;NAGPA_HUMAN;.	K	147	ENSP00000310998:E147K;ENSP00000371381:E147K	ENSP00000310998:E147K	E	-	1	0	NAGPA	5023378	0.916000	0.31088	0.953000	0.39169	0.927000	0.56198	1.378000	0.34328	0.902000	0.36520	0.650000	0.86243	GAG		0.736	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		8	33	0	0	0	1	0	8	33				
PRPS1	5631	broad.mit.edu	37	X	106882528	106882528	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:106882528G>A	ENST00000372435.4	+	2	248	c.126G>A	c.(124-126)gtG>gtA	p.V42V	PRPS1_ENST00000372418.1_5'Flank|PRPS1_ENST00000543248.1_Silent_p.V42V|PRPS1_ENST00000372428.4_5'UTR|PRPS1_ENST00000372419.3_Silent_p.V42V	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	42					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						ATTGTAGTGTGGAAATTGGTG	0.383																																						ENST00000372435.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						c.(124-126)gtG>gtA		phosphoribosyl pyrophosphate synthetase 1							195.0	180.0	185.0					X																	106882528		2203	4300	6503	SO:0001819	synonymous_variant	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106882528G>A	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.126G>A	X.37:g.106882528G>A						PRPS1_ENST00000543248.1_Silent_p.V42V|PRPS1_ENST00000372419.3_Silent_p.V42V|PRPS1_ENST00000372428.4_5'UTR	p.V42V	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN			2	248	+			42					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Silent	SNP	ENST00000372435.4	37	c.126G>A	CCDS14529.1																																																																																				0.383	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			43	200	0	0	0	1	0	43	200				
SIRPB2	284759	broad.mit.edu	37	20	1456880	1456880	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:1456880C>T	ENST00000359801.3	-	5	997	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	SIRPB2_ENST00000608747.1_5'Flank|SIRPB2_ENST00000444444.2_Missense_Mutation_p.E223K	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	355	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGACATCTTCTTGCCCAGGG	0.597																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(961-963)Gaa>Aaa		signal-regulatory protein beta 2							125.0	110.0	114.0					20																	1456880		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1456880C>T	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.961G>A	20.37:g.1456880C>T	ENSP00000352849:p.Glu321Lys					SIRPB2_ENST00000444444.1_Missense_Mutation_p.E223K	p.E321K	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			5	997	-			321					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.961G>A	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947630	0.53186	.	.	ENSG00000196209	ENST00000359801;ENST00000444444	T;T	0.02158	4.65;4.42	3.53	3.53	0.40419	.	1.732920	0.03596	N	0.232659	T	0.02610	0.0079	N	0.19112	0.55	0.80722	D	1	P;P	0.37781	0.608;0.608	B;B	0.32289	0.143;0.109	T	0.52734	-0.8536	10	0.62326	D	0.03	-24.2986	13.3528	0.60611	0.0:1.0:0.0:0.0	.	223;321	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	K	321;223	ENSP00000352849:E321K;ENSP00000402438:E223K	ENSP00000352849:E321K	E	-	1	0	SIRPB2	1404880	0.457000	0.25752	0.038000	0.18304	0.092000	0.18411	2.469000	0.45110	2.266000	0.75297	0.491000	0.48974	GAA		0.597	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		20	117	0	0	0	1	0	20	117				
ARIH2OS	646450	broad.mit.edu	37	3	48956416	48956416	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:48956416G>A	ENST00000408959.2	-	1	402	c.167C>T	c.(166-168)tCg>tTg	p.S56L	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000356401.4_5'UTR	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	56						integral component of membrane (GO:0016021)											CAGCGGCCGCGAGGCCGCAGC	0.761																																						ENST00000408959.2																			0											c.(166-168)tCg>tTg		ariadne homolog 2 opposite strand							3.0	4.0	3.0					3																	48956416		1026	2581	3607	SO:0001583	missense	646450							g.chr3:48956416G>A	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 71"""	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.167C>T	3.37:g.48956416G>A	ENSP00000386193:p.Ser56Leu					ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000490095.1_3'UTR	p.S56L	NM_001123040.1	NP_001116512.1					1	402	-									Missense_Mutation	SNP	ENST00000408959.2	37	c.167C>T	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	G	7.466	0.645617	0.14451	.	.	ENSG00000221883	ENST00000408959	.	.	.	4.09	2.26	0.28386	.	.	.	.	.	T	0.27933	0.0688	N	0.08118	0	0.58432	D	0.999998	B	0.19935	0.04	B	0.08055	0.003	T	0.07770	-1.0755	8	0.87932	D	0	.	4.9499	0.14009	0.1105:0.0:0.681:0.2086	.	56	Q8N7S6	CC071_HUMAN	L	56	.	ENSP00000386193:S56L	S	-	2	0	C3orf71	48931420	0.362000	0.24980	0.212000	0.23672	0.005000	0.04900	0.052000	0.14163	0.483000	0.27608	0.655000	0.94253	TCG		0.761	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040		3	9	0	0	0	1	0	3	9				
SIPA1L1	26037	broad.mit.edu	37	14	72191394	72191394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:72191394C>T	ENST00000555818.1	+	17	4867	c.4519C>T	c.(4519-4521)Cag>Tag	p.Q1507*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.Q1486*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.Q1486*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.Q961*|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1507					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGGCGTCATCAGAGCGATGG	0.498																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4519-4521)Cag>Tag		signal-induced proliferation-associated 1 like 1							81.0	77.0	79.0					14																	72191394		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72191394C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4519C>T	14.37:g.72191394C>T	ENSP00000450832:p.Gln1507*					SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.Q1486*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.Q961*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.Q1486*	p.Q1507*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	17	4867	+			1507					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.4519C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	41	9.074120	0.99057	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.48	5.48	0.80851	.	0.054163	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-21.117	19.336	0.94319	0.0:1.0:0.0:0.0	.	.	.	.	X	1486;1507;1486;961	.	ENSP00000351352:Q1507X	Q	+	1	0	SIPA1L1	71261147	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.039000	0.76544	2.565000	0.86533	0.655000	0.94253	CAG		0.498	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		12	47	0	0	0	1	0	12	47				
IFT81	28981	broad.mit.edu	37	12	110630482	110630482	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:110630482G>C	ENST00000242591.5	+	14	2034	c.1528G>C	c.(1528-1530)Gag>Cag	p.E510Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E510Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	510					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGTTATAAAAGAGCTACGACA	0.279																																						ENST00000242591.5																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1528-1530)Gag>Cag		intraflagellar transport 81 homolog (Chlamydomonas)							81.0	78.0	79.0					12																	110630482		1790	4070	5860	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110630482G>C	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1528G>C	12.37:g.110630482G>C	ENSP00000242591:p.Glu510Gln					IFT81_ENST00000552912.1_Missense_Mutation_p.E510Q	p.E510Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			14	2034	+			510					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1528G>C	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979084	0.92982	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.14640	2.49;2.49	5.93	5.93	0.95920	.	0.086688	0.85682	D	0.000000	T	0.22820	0.0551	L	0.50333	1.59	0.80722	D	1	P	0.48162	0.906	P	0.47134	0.539	T	0.00078	-1.2114	10	0.40728	T	0.16	-16.9868	20.3368	0.98748	0.0:0.0:1.0:0.0	.	510	Q8WYA0	IFT81_HUMAN	Q	510	ENSP00000449718:E510Q;ENSP00000242591:E510Q	ENSP00000242591:E510Q	E	+	1	0	IFT81	109114865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.062000	0.93920	2.805000	0.96524	0.655000	0.94253	GAG		0.279	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		9	66	0	0	0	1	0	9	66				
PCGF2	7703	broad.mit.edu	37	17	36896596	36896596	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:36896596G>A	ENST00000580830.1	-	4	761	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCGF2_ENST00000581345.1_Silent_p.L20L|PCGF2_ENST00000585100.1_Silent_p.L20L|PCGF2_ENST00000360797.2_Silent_p.L20L|PCGF2_ENST00000579882.1_Silent_p.L20L|PCGF2_ENST00000578109.1_Intron			P35227	PCGF2_HUMAN	polycomb group ring finger 2	20					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ACCCCCCGCAGAGGGCACACA	0.637																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(58-60)ctC>ctT		polycomb group ring finger 2							109.0	106.0	107.0					17																	36896596		2203	4300	6503	SO:0001819	synonymous_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896596G>A	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.60C>T	17.37:g.36896596G>A						PCGF2_ENST00000581345.1_Silent_p.L20L|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Silent_p.L20L|PCGF2_ENST00000585100.1_Silent_p.L20L|PCGF2_ENST00000579882.1_Silent_p.L20L	p.L20L			P35227	PCGF2_HUMAN			4	761	-	Breast(7;9.07e-22)		20					A6NGD8	Silent	SNP	ENST00000580830.1	37	c.60C>T	CCDS32638.1																																																																																				0.637	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		12	132	0	0	0	1	0	12	132				
C5orf56	441108	broad.mit.edu	37	5	131796262	131796262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:131796262C>T	ENST00000337752.2	+	4	228	c.97C>T	c.(97-99)Caa>Taa	p.Q33*	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	33										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						agggaatcttcaaactcttct	0.552																																						ENST00000337752.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(97-99)Caa>Taa		chromosome 5 open reading frame 56							215.0	212.0	213.0					5																	131796262		2203	4300	6503	SO:0001587	stop_gained	441108							g.chr5:131796262C>T	BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.97C>T	5.37:g.131796262C>T	ENSP00000338228:p.Gln33*					C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron	p.Q33*			Q8N8D9	CE056_HUMAN			4	228	+			33					A1L3V9|A6NKA0	Nonsense_Mutation	SNP	ENST00000337752.2	37	c.97C>T		.	.	.	.	.	.	.	.	.	.	C	10.58	1.389955	0.25118	.	.	ENSG00000197536	ENST00000337752	.	.	.	3.0	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.3375	0.15965	0.2358:0.535:0.2292:0.0	.	.	.	.	X	33	.	ENSP00000338228:Q33X	Q	+	1	0	C5orf56	131824161	0.003000	0.15002	0.001000	0.08648	0.006000	0.05464	2.062000	0.41413	0.261000	0.21753	-0.243000	0.11985	CAA		0.552	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000132329.1	NM_001013717		40	244	0	0	0	1	0	40	244				
AK4	205	broad.mit.edu	37	1	65691775	65691775	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:65691775G>A	ENST00000327299.7	+	5	792	c.587G>A	c.(586-588)gGa>gAa	p.G196E	AK4_ENST00000395334.2_Missense_Mutation_p.G196E|AK4_ENST00000545314.1_Missense_Mutation_p.G196E|AK4_ENST00000546702.1_Missense_Mutation_p.G144E	NM_013410.3	NP_037542.1			adenylate kinase 4									p.G196K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						CAATTTTCCGGAACGGAGACG	0.438																																						ENST00000395334.2																			1	Substitution - Missense(1)	p.G196K(1)	skin(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						c.(586-588)gGa>gAa		adenylate kinase 4							44.0	42.0	43.0					1																	65691775		2203	4300	6503	SO:0001583	missense	205					mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	g.chr1:65691775G>A	AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.587G>A	1.37:g.65691775G>A	ENSP00000322175:p.Gly196Glu					AK4_ENST00000546702.1_Missense_Mutation_p.G144E|AK4_ENST00000545314.1_Missense_Mutation_p.G196E|AK4_ENST00000327299.7_Missense_Mutation_p.G196E	p.G196E	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN			6	945	+			196						Missense_Mutation	SNP	ENST00000327299.7	37	c.587G>A	CCDS629.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688840	0.88639	.	.	ENSG00000162433	ENST00000545314;ENST00000546702;ENST00000395334;ENST00000327299	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.2	5.2	0.72013	.	0.046570	0.85682	D	0.000000	T	0.60457	0.2270	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.65545	-0.6142	10	0.87932	D	0	-34.2909	18.5259	0.90973	0.0:0.0:1.0:0.0	.	196	P27144	KAD4_HUMAN	E	196;144;196;196	ENSP00000445912:G196E;ENSP00000448458:G144E;ENSP00000378743:G196E;ENSP00000322175:G196E	ENSP00000322175:G196E	G	+	2	0	AK4	65464363	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	6.678000	0.74508	2.708000	0.92522	0.650000	0.86243	GGA		0.438	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	NM_013410		6	43	0	0	0	1	0	6	43				
AIM1	202	broad.mit.edu	37	6	106968853	106968853	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:106968853C>G	ENST00000369066.3	+	2	3033	c.2546C>G	c.(2545-2547)tCt>tGt	p.S849C		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAATCTTTTCTCCTTCTGTG	0.438																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2545-2547)tCt>tGt		absent in melanoma 1							78.0	79.0	79.0					6																	106968853		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968853C>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2546C>G	6.37:g.106968853C>G	ENSP00000358062:p.Ser849Cys						p.S849C	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3033	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	849					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2546C>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889612	0.52014	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.74947	-0.89	5.99	5.99	0.97316	.	0.836592	0.10885	N	0.623368	T	0.79052	0.4381	M	0.75447	2.3	0.28718	N	0.903161	D	0.76494	0.999	D	0.70716	0.97	T	0.73691	-0.3903	10	0.66056	D	0.02	.	7.0952	0.25305	0.1307:0.675:0.1259:0.0684	.	849	Q9Y4K1	AIM1_HUMAN	C	1257;849	ENSP00000358062:S849C	ENSP00000285105:S1257C	S	+	2	0	AIM1	107075546	0.987000	0.35691	0.980000	0.43619	0.865000	0.49528	1.113000	0.31184	2.840000	0.97914	0.655000	0.94253	TCT		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			10	77	0	0	0	1	0	10	77				
RAP2C	57826	broad.mit.edu	37	X	131351188	131351188	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:131351188C>T	ENST00000342983.2	-	2	855	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RAP2C_ENST00000370874.1_Missense_Mutation_p.E37K|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_Intron	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	37					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TAGAAATCTTCAATGGTGGGG	0.493																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(109-111)Gaa>Aaa		RAP2C, member of RAS oncogene family							141.0	139.0	140.0					X																	131351188		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351188C>T	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.109G>A	X.37:g.131351188C>T	ENSP00000340274:p.Glu37Lys					RAP2C_ENST00000460462.1_Intron|RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.E37K	p.E37K	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	855	-	Acute lymphoblastic leukemia(192;0.000127)		37					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.109G>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	c	36	5.776512	0.96922	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.80480	-1.38;-1.38	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94508	0.7716	10	0.87932	D	0	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	37	Q9Y3L5	RAP2C_HUMAN	K	37	ENSP00000340274:E37K;ENSP00000359911:E37K	ENSP00000340274:E37K	E	-	1	0	RAP2C	131178869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.236000	0.73375	0.502000	0.49764	GAA		0.493	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		59	261	0	0	0	1	0	59	261				
CLSTN3	9746	broad.mit.edu	37	12	7293930	7293930	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:7293930C>T	ENST00000266546.6	+	9	1866	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	CLSTN3_ENST00000537408.1_Silent_p.L484L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	472					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCCTGCCCTCATCCATGACA	0.567											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1450-1452)ctC>ctT		calsyntenin 3							301.0	226.0	251.0					12																	7293930		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7293930C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1416C>T	12.37:g.7293930C>T			OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_ENST00000266546.6_Silent_p.L472L	p.L484L			Q9BQT9	CSTN3_HUMAN			8	1990	+			472					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1452C>T	CCDS8575.1																																																																																				0.567	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		41	289	0	0	0	1	0	41	289				
CC2D1A	54862	broad.mit.edu	37	19	14024040	14024040	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:14024040C>G	ENST00000318003.7	+	5	679	c.438C>G	c.(436-438)ctC>ctG	p.L146L	CC2D1A_ENST00000589606.1_Silent_p.L146L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	146					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTGGCGCTCTATCAGACAG	0.627																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(436-438)ctC>ctG		coiled-coil and C2 domain containing 1A							20.0	25.0	23.0					19																	14024040		1972	4153	6125	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024040C>G	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.438C>G	19.37:g.14024040C>G						CC2D1A_ENST00000589606.1_Silent_p.L146L	p.L146L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	679	+			146					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.438C>G	CCDS42512.1																																																																																				0.627	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		5	45	0	0	0	1	0	5	45				
TRAPPC9	83696	broad.mit.edu	37	8	141321381	141321381	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:141321381G>A	ENST00000438773.2	-	10	1721	c.1588C>T	c.(1588-1590)Cca>Tca	p.P530S	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P628S|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P521S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	530					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCACCGGTGGCAGGGTGAGG	0.592																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1882-1884)Cca>Tca		trafficking protein particle complex 9							72.0	71.0	71.0					8																	141321381		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141321381G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1588C>T	8.37:g.141321381G>A	ENSP00000405060:p.Pro530Ser					TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P521S|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P530S	p.P628S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			10	1896	-			530					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1882C>T	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.030988|4.030988	0.75504|0.75504	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76090|0.76090	0.3939|0.3939	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.995;0.999;0.992	T|T	0.70288|0.70288	-0.4913|-0.4913	5|9	.|0.29301	.|T	.|0.29	.|.	19.7175|19.7175	0.96129|0.96129	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|530;521;628	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	V|S	373|628;521;530	.|.	.|ENSP00000373978:P521S	A|P	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141390563|141390563	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.273000|0.273000	0.26683|0.26683	8.365000|8.365000	0.90108|0.90108	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.592	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		5	50	0	0	0	1	0	5	50				
UHRF1	29128	broad.mit.edu	37	19	4944242	4944242	+	RNA	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:4944242C>T	ENST00000592666.1	+	0	1748							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCGGCCACATCGTCCTCACAG	0.647																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							64.0	77.0	73.0					19																	4944242		2093	4199	6292			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4944242C>T	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4944242C>T										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	1748	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	C	26.0	4.695626	0.88830	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.21	4.21	0.49690	.	0.065400	0.64402	D	0.000005	T	0.70482	0.3229	L	0.56769	1.78	0.46011	D	0.998818	D;D	0.76494	0.999;0.99	D;P	0.72625	0.978;0.588	T	0.74070	-0.3783	8	0.37606	T	0.19	-4.5628	14.9133	0.70776	0.0:1.0:0.0:0.0	.	404;391	Q2HIX7;Q96T88	.;UHRF1_HUMAN	L	391;6;391;391;404	.	ENSP00000262952:S391L	S	+	2	0	UHRF1	4895242	1.000000	0.71417	0.907000	0.35723	0.818000	0.46254	7.536000	0.82023	2.193000	0.70182	0.561000	0.74099	TCG		0.647	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		4	63	0	0	0	1	0	4	63				
IL31RA	133396	broad.mit.edu	37	5	55155385	55155385	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:55155385G>A	ENST00000447346.2	+	2	177	c.112G>A	c.(112-114)Gca>Aca	p.A38T	IL31RA_ENST00000359040.5_Missense_Mutation_p.A38T|IL31RA_ENST00000396834.1_Missense_Mutation_p.A19T|IL31RA_ENST00000396836.2_Missense_Mutation_p.A38T|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000354961.4_Missense_Mutation_p.A19T|IL31RA_ENST00000490985.1_5'UTR	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	6	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGGACCTGGGCACTGTGGAT	0.468																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(55-57)Gca>Aca		interleukin 31 receptor A							186.0	162.0	170.0					5																	55155385		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55155385G>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.112G>A	5.37:g.55155385G>A	ENSP00000415900:p.Ala38Thr					IL31RA_ENST00000359040.5_Missense_Mutation_p.A38T|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.A38T|IL31RA_ENST00000396836.2_Missense_Mutation_p.A38T|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000354961.4_Missense_Mutation_p.A19T	p.A19T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			4	551	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	6					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.55G>A	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	.	11.36	1.615439	0.28801	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000354961	T;T;T;T;T	0.38401	1.42;1.15;1.14;1.14;1.15	4.47	-0.394	0.12434	.	4.774760	0.00166	N	0.000011	T	0.25306	0.0615	N	0.16478	0.41	0.33654	D	0.608895	B;B;B;B;B	0.23891	0.02;0.035;0.084;0.084;0.093	B;B;B;B;B	0.23574	0.014;0.015;0.046;0.046;0.047	T	0.15954	-1.0419	10	0.39692	T	0.17	-4.0226	7.3389	0.26625	0.4974:0.0:0.5026:0.0	.	6;38;19;38;38	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	T	38;19;38;38;19	ENSP00000380048:A38T;ENSP00000380046:A19T;ENSP00000415900:A38T;ENSP00000351935:A38T;ENSP00000347047:A19T	ENSP00000347047:A19T	A	+	1	0	IL31RA	55191142	0.014000	0.17966	0.152000	0.22495	0.872000	0.50106	0.200000	0.17257	-0.211000	0.10124	0.650000	0.86243	GCA		0.468	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		18	104	0	0	0	1	0	18	104				
USP15	9958	broad.mit.edu	37	12	62708577	62708577	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:62708577G>C	ENST00000280377.5	+	4	413	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	USP15_ENST00000312635.6_Missense_Mutation_p.E119Q|USP15_ENST00000353364.3_Missense_Mutation_p.E119Q|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.E119Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	119					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTAGGTGGTTGAACAGGGTAT	0.303																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(355-357)Gaa>Caa		ubiquitin specific peptidase 15							236.0	262.0	253.0					12																	62708577		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62708577G>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.355G>C	12.37:g.62708577G>C	ENSP00000280377:p.Glu119Gln					USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.E119Q|USP15_ENST00000353364.3_Missense_Mutation_p.E119Q|USP15_ENST00000393654.3_Missense_Mutation_p.E119Q	p.E119Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	4	413	+			119					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.355G>C	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.944880|4.944880	0.92593|0.92593	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836|ENST00000549237	T;T;T|.	0.20200|.	2.11;2.09;2.12|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);|.	0.242128|.	0.41500|.	D|.	0.000873|.	T|T	0.74207|0.74207	0.3686|0.3686	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.72075|.	0.969;0.947;0.976|.	T|T	0.71417|0.71417	-0.4599|-0.4599	9|5	.|.	.|.	.|.	-17.8913|-17.8913	19.6017|19.6017	0.95566|0.95566	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119;119;119|.	Q9Y4E8;Q9Y4E8-2;Q9H8G9|.	UBP15_HUMAN;.;.|.	Q|F	119;127;119;119;119;65|114	ENSP00000258123:E119Q;ENSP00000280377:E119Q;ENSP00000377264:E119Q|.	.|.	E|L	+|+	1|3	0|2	USP15|USP15	60994844|60994844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	9.837000|9.837000	0.99465|0.99465	2.619000|2.619000	0.88677|0.88677	0.557000|0.557000	0.71058|0.71058	GAA|TTG		0.303	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		25	270	0	0	0	1	0	25	270				
CHDC2	286464	broad.mit.edu	37	X	36162701	36162701	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:36162701G>T	ENST00000313548.4	+	11	1470	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	428	CH.					integral component of membrane (GO:0016021)											tgtttccaaaggagatggatg	0.468																																						ENST00000378660.1																			0											c.(1282-1284)aaG>aaT		calponin homology domain containing 2							129.0	129.0	129.0					X																	36162701		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36162701G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1284G>T	X.37:g.36162701G>T	ENSP00000324767:p.Lys428Asn					CHDC2_ENST00000313548.4_Missense_Mutation_p.K428N	p.K428N							11	1472	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.1284G>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	0.380	-0.929429	0.02359	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	0.559	-0.595	0.11660	.	4.275910	0.01895	U	0.038808	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.10450	0.005	T	0.17715	-1.0360	8	0.02654	T	1	.	.	.	.	.	428	Q8N9S7	CX059_HUMAN	N	428	.	ENSP00000324767:K428N	K	+	3	2	CXorf59	36072622	0.027000	0.19231	0.001000	0.08648	0.001000	0.01503	-0.358000	0.07641	-0.343000	0.08351	-0.343000	0.07986	AAG		0.468	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		11	77	1	0	2.80697e-09	1	2.92032e-09	11	77				
FRMD3	257019	broad.mit.edu	37	9	85863132	85863132	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:85863132C>T	ENST00000304195.3	-	14	1701	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	FRMD3_ENST00000328788.1_Missense_Mutation_p.E156K|FRMD3_ENST00000376438.1_Missense_Mutation_p.E499K|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.E305K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	499						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCAGCTCCTCTTCTTCAGCA	0.483																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1495-1497)Gag>Aag		FERM domain containing 3							114.0	115.0	115.0					9																	85863132		1976	4172	6148	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863132C>T	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1495G>A	9.37:g.85863132C>T	ENSP00000303508:p.Glu499Lys					FRMD3_ENST00000376438.1_Missense_Mutation_p.E499K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E305K|FRMD3_ENST00000328788.1_Missense_Mutation_p.E156K|FRMD3_ENST00000465485.1_5'UTR	p.E499K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1701	-			499					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1495G>A	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409263	0.62399	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86432	-1.71;-2.12;0.71;-1.73	5.62	5.62	0.85841	.	0.163584	0.53938	D	0.000051	D	0.92928	0.7750	M	0.65498	2.005	0.58432	D	0.99999	P;P;D	0.71674	0.808;0.782;0.998	B;B;D	0.78314	0.281;0.325;0.991	D	0.92221	0.5784	10	0.48119	T	0.1	.	19.6702	0.95909	0.0:1.0:0.0:0.0	.	499;499;156	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	K	499;305;156;499	ENSP00000365621:E499K;ENSP00000365617:E305K;ENSP00000328615:E156K;ENSP00000303508:E499K	ENSP00000303508:E499K	E	-	1	0	FRMD3	85052952	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.401000	0.44513	2.664000	0.90586	0.655000	0.94253	GAG		0.483	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		23	147	0	0	0	1	0	23	147				
COL6A1	1291	broad.mit.edu	37	21	47417353	47417353	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:47417353G>A	ENST00000361866.3	+	21	1531	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	473	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGGCCCTATCGGACCTAAAGG	0.652																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1417-1419)Gga>Aga		collagen, type VI, alpha 1	Palifermin(DB00039)						66.0	59.0	61.0					21																	47417353		2203	4300	6503	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47417353G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1417G>A	21.37:g.47417353G>A	ENSP00000355180:p.Gly473Arg						p.G473R	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	21	1531	+	all_hematologic(128;0.24)		473			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.1417G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072653	0.36566	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.99637	-6.29	3.44	3.44	0.39384	.	0.071233	0.56097	D	0.000026	D	0.99792	0.9912	H	0.99130	4.44	0.51767	D	0.999932	D	0.89917	1.0	D	0.97110	1.0	D	0.96792	0.9583	10	0.87932	D	0	-14.1156	12.0709	0.53616	0.0:0.0:1.0:0.0	.	473	P12109	CO6A1_HUMAN	R	473	ENSP00000355180:G473R	ENSP00000355180:G473R	G	+	1	0	COL6A1	46241781	1.000000	0.71417	0.988000	0.46212	0.377000	0.30045	3.562000	0.53777	1.950000	0.56595	0.297000	0.19635	GGA		0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		4	83	0	0	0	1	0	4	83				
IFFO1	25900	broad.mit.edu	37	12	6665011	6665011	+	Missense_Mutation	SNP	G	G	A	rs577623375		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:6665011G>A	ENST00000396840.2	-	1	226	c.185C>T	c.(184-186)gCc>gTc	p.A62V	IFFO1_ENST00000336604.4_Missense_Mutation_p.A62V|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.A62V			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	62						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCCATGGCGGCAggcggggc	0.721																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(184-186)gCc>gTc		intermediate filament family orphan 1							31.0	35.0	33.0					12																	6665011		2202	4299	6501	SO:0001583	missense	25900					intermediate filament		g.chr12:6665011G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.185C>T	12.37:g.6665011G>A	ENSP00000380052:p.Ala62Val					IFFO1_ENST00000356896.4_Missense_Mutation_p.A62V|IFFO1_ENST00000396840.2_Missense_Mutation_p.A62V	p.A62V	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			1	226	-			62					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.185C>T		.	.	.	.	.	.	.	.	.	.	G	17.64	3.439916	0.63067	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	T;T;T	0.38887	1.11;1.11;1.11	4.33	3.41	0.39046	.	1.030880	0.07781	N	0.953395	T	0.32255	0.0823	N	0.25647	0.755	0.80722	D	1	P;P;P;P	0.40731	0.728;0.728;0.728;0.728	B;B;B;B	0.36666	0.23;0.23;0.23;0.23	T	0.03103	-1.1072	10	0.33940	T	0.23	-16.9899	12.8864	0.58047	0.0:0.1657:0.8343:0.0	.	62;62;62;62	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	V	62	ENSP00000337593:A62V;ENSP00000380052:A62V;ENSP00000349364:A62V	ENSP00000337593:A62V	A	-	2	0	IFFO1	6535272	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.486000	0.73629	0.985000	0.38656	0.561000	0.74099	GCC		0.721	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		4	91	0	0	0	1	0	4	91				
TLR7	51284	broad.mit.edu	37	X	12904323	12904323	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:12904323C>G	ENST00000380659.3	+	3	835	c.696C>G	c.(694-696)ctC>ctG	p.L232L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	232					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AACTATATCTCTACAACAACA	0.358																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(694-696)ctC>ctG		toll-like receptor 7	Imiquimod(DB00724)						66.0	60.0	62.0					X																	12904323		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904323C>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.696C>G	X.37:g.12904323C>G							p.L232L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	835	+			232					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.696C>G	CCDS14151.1																																																																																				0.358	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		13	75	0	0	0	1	0	13	75				
PCDHGA1	56114	broad.mit.edu	37	5	140710615	140710615	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:140710615G>A	ENST00000517417.1	+	1	364	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E122K	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGAAGTAGAAATAATTGA	0.418																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(364-366)Gaa>Aaa									91.0	106.0	101.0					5																	140710615		2203	4300	6503	SO:0001583	missense	56114							g.chr5:140710615G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.364G>A	5.37:g.140710615G>A	ENSP00000431083:p.Glu122Lys					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E122K	p.E122K	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	364	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.364G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881724	0.72294	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52754	0.65;0.66	4.2	4.2	0.49525	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000110	T	0.68137	0.2968	M	0.85197	2.74	0.32708	N	0.512024	D;D	0.61697	0.99;0.975	P;P	0.58721	0.844;0.77	T	0.80313	-0.1435	10	0.87932	D	0	.	16.7229	0.85414	0.0:0.0:1.0:0.0	.	122;122	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	K	122	ENSP00000431083:E122K;ENSP00000367345:E122K	ENSP00000367345:E122K	E	+	1	0	PCDHGA1	140690799	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	4.371000	0.59523	2.349000	0.79799	0.655000	0.94253	GAA		0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		22	173	0	0	0	1	0	22	173				
FAM134C	162427	broad.mit.edu	37	17	40733930	40733930	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:40733930G>A	ENST00000309428.5	-	9	1361	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	FAM134C_ENST00000585894.1_Silent_p.P337P|FAM134C_ENST00000543197.1_Silent_p.P239P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	434						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGTCTGAACTGGGGGACCGGA	0.602																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(1300-1302)ccC>ccT		family with sequence similarity 134, member C							47.0	44.0	45.0					17																	40733930		2203	4300	6503	SO:0001819	synonymous_variant	162427					integral to membrane		g.chr17:40733930G>A	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1302C>T	17.37:g.40733930G>A						FAM134C_ENST00000585894.1_Silent_p.P337P|FAM134C_ENST00000543197.1_Silent_p.P239P	p.P434P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1361	-		Breast(137;0.00116)	434					B3KR75	Silent	SNP	ENST00000309428.5	37	c.1302C>T	CCDS11432.1																																																																																				0.602	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		9	63	0	0	0	1	0	9	63				
ZNF91	7644	broad.mit.edu	37	19	23557444	23557444	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:23557444G>A	ENST00000300619.7	-	2	358	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ZNF91_ENST00000599743.1_Silent_p.F51F|ZNF91_ENST00000397082.2_Silent_p.F51F	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCTTACCCAGGAAGGCCAGGT	0.353																																						ENST00000300619.7																			0											c.(151-153)ttC>ttT		zinc finger protein 91							69.0	77.0	74.0					19																	23557444		2200	4300	6500	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23557444G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.153C>T	19.37:g.23557444G>A						ZNF91_ENST00000599743.1_Silent_p.F51F|ZNF91_ENST00000397082.2_Silent_p.F51F	p.F51F	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			2	358	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	51			KRAB.		A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.153C>T	CCDS42541.1																																																																																				0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		17	137	0	0	0	1	0	17	137				
DNHD1	144132	broad.mit.edu	37	11	6524045	6524045	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6524045C>T	ENST00000527990.2	+	2	809	c.809C>T	c.(808-810)tCa>tTa	p.S270L	DNHD1_ENST00000354685.3_Missense_Mutation_p.S270L|DNHD1_ENST00000254579.6_Missense_Mutation_p.S270L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	270					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCGGCTTTTCACCTGAGACT	0.488																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(808-810)tCa>tTa		dynein heavy chain domain 1							107.0	89.0	95.0					11																	6524045		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6524045C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.809C>T	11.37:g.6524045C>T	ENSP00000436180:p.Ser270Leu					DNHD1_ENST00000354685.3_Missense_Mutation_p.S270L|DNHD1_ENST00000527990.2_Missense_Mutation_p.S270L	p.S270L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	1373	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	270					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.809C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	5.532	0.283048	0.10458	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.26373	1.74;2.74;1.74	5.47	-3.32	0.04973	.	2.000660	0.02308	N	0.071840	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.27400	-1.0075	10	0.07482	T	0.82	.	8.1335	0.31041	0.0:0.5952:0.162:0.2428	.	270;270	Q96M86;Q96M86-4	DNHD1_HUMAN;.	L	270	ENSP00000254579:S270L;ENSP00000346716:S270L;ENSP00000436180:S270L	ENSP00000254579:S270L	S	+	2	0	DNHD1	6480621	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.270000	0.18607	-0.506000	0.06558	-0.471000	0.05019	TCA		0.488	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		10	74	0	0	0	1	0	10	74				
SEC31B	25956	broad.mit.edu	37	10	102249149	102249149	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:102249149C>T	ENST00000370345.3	-	23	3128	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1011	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATAAATGTCTCTGGCAGCTAA	0.517																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(3031-3033)Gag>Aag		SEC31 homolog B (S. cerevisiae)							57.0	62.0	60.0					10																	102249149		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102249149C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3031G>A	10.37:g.102249149C>T	ENSP00000359370:p.Glu1011Lys						p.E1011K	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	23	3128	-		Colorectal(252;0.117)	1011			Pro-rich.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.3031G>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702436	0.30232	.	.	ENSG00000075826	ENST00000370345	T	0.50548	0.74	4.68	4.68	0.58851	.	0.445208	0.26244	N	0.025499	T	0.48909	0.1526	L	0.56769	1.78	0.80722	D	1	P;B	0.40875	0.731;0.221	P;B	0.45343	0.477;0.072	T	0.47935	-0.9078	10	0.44086	T	0.13	-3.3166	10.3665	0.44026	0.0:0.911:0.0:0.089	.	1010;1011	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	K	1011	ENSP00000359370:E1011K	ENSP00000359370:E1011K	E	-	1	0	SEC31B	102239139	0.998000	0.40836	0.987000	0.45799	0.032000	0.12392	3.935000	0.56560	2.445000	0.82738	0.561000	0.74099	GAG		0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		6	29	0	0	0	1	0	6	29				
THSD7A	221981	broad.mit.edu	37	7	11468645	11468645	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:11468645G>A	ENST00000423059.4	-	14	3423	c.3172C>T	c.(3172-3174)Cgt>Tgt	p.R1058C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1058	TSP type-1 11. {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)		CATTTAGAACGAACCTTCACA	0.512										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.(3172-3174)Cgt>Tgt		thrombospondin, type I, domain containing 7A							233.0	230.0	231.0					7																	11468645		2047	4179	6226	SO:0001583	missense	221981					integral to membrane		g.chr7:11468645G>A		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.3172C>T	7.37:g.11468645G>A	ENSP00000406482:p.Arg1058Cys	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.R1058C	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	14	3423	-			1058			TSP type-1 11.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3172C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292648	0.59976	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.80909	-1.43	5.28	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95890	0.8906	10	0.87932	D	0	.	13.8912	0.63740	0.0:0.0:0.7226:0.2774	.	1058	Q9UPZ6	THS7A_HUMAN	C	1058	ENSP00000406482:R1058C	ENSP00000262042:R1058C	R	-	1	0	THSD7A	11435170	1.000000	0.71417	0.847000	0.33407	0.473000	0.32948	4.402000	0.59722	1.319000	0.45190	0.655000	0.94253	CGT		0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		50	292	0	0	0	1	0	50	292				
MYCBP2	23077	broad.mit.edu	37	13	77635394	77635394	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:77635394C>G	ENST00000544440.2	-	76	12849	c.12832G>C	c.(12832-12834)Gaa>Caa	p.E4278Q	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4278Q|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E4316Q					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCACAACCTTCATGAAGGTCA	0.373																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12946-12948)Gaa>Caa		MYC binding protein 2, E3 ubiquitin protein ligase							129.0	109.0	116.0					13																	77635394		2202	4300	6502	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77635394C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12832G>C	13.37:g.77635394C>G	ENSP00000444596:p.Glu4278Gln					MYCBP2_ENST00000544440.2_Missense_Mutation_p.E4278Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4278Q	p.E4316Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	76	13212	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4278						Missense_Mutation	SNP	ENST00000544440.2	37	c.12946G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.473209|4.473209	0.84640|0.84640	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.39406|.	1.08;1.08;1.08|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75309|.	0.3832|.	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.67900|.	0.954|.	T|.	0.71457|.	-0.4587|.	10|.	0.87932|.	D|.	0|.	.|.	19.0599|19.0599	0.93085|0.93085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4278|.	O75592|.	MYCB2_HUMAN|.	Q|S	4278;4316;4278|698	ENSP00000349892:E4278Q;ENSP00000384288:E4316Q;ENSP00000444596:E4278Q|.	ENSP00000349892:E4278Q|.	E|X	-|-	1|2	0|2	MYCBP2|MYCBP2	76533395|76533395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.463000|7.463000	0.80869|0.80869	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		9	41	0	0	0	1	0	9	41				
ASB16	92591	broad.mit.edu	37	17	42248167	42248167	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:42248167G>A	ENST00000293414.1	+	1	94	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	4					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CATGGCAAGAGAGACCTTCCC	0.682																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(10-12)Gag>Aag		ankyrin repeat and SOCS box containing 16							49.0	45.0	46.0					17																	42248167		2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248167G>A	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.10G>A	17.37:g.42248167G>A	ENSP00000293414:p.Glu4Lys						p.E4K	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	94	+		Breast(137;0.00765)|Prostate(33;0.0313)	4					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.10G>A	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950105	0.53186	.	.	ENSG00000161664	ENST00000293414	T	0.64260	-0.09	5.26	4.27	0.50696	.	0.317296	0.37053	N	0.002272	T	0.41627	0.1167	N	0.08118	0	0.40556	D	0.981161	P	0.36282	0.546	B	0.31812	0.136	T	0.53180	-0.8475	10	0.87932	D	0	-9.3025	14.7139	0.69254	0.0:0.1461:0.8539:0.0	.	4	Q96NS5	ASB16_HUMAN	K	4	ENSP00000293414:E4K	ENSP00000293414:E4K	E	+	1	0	ASB16	39603693	1.000000	0.71417	0.386000	0.26170	0.534000	0.34807	4.394000	0.59671	1.410000	0.46936	0.561000	0.74099	GAG		0.682	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			15	78	0	0	0	1	0	15	78				
USP9X	8239	broad.mit.edu	37	X	41027443	41027443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:41027443G>T	ENST00000324545.8	+	18	3241	c.2608G>T	c.(2608-2610)Gag>Tag	p.E870*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.E870*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	870					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGATTATCATGAGGAAAGAAC	0.333																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2608-2610)Gag>Tag		ubiquitin specific peptidase 9, X-linked							108.0	99.0	102.0					X																	41027443		1982	4179	6161	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41027443G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2608G>T	X.37:g.41027443G>T	ENSP00000316357:p.Glu870*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.E870*	p.E870*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			18	3241	+			870					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.2608G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	40	8.207802	0.98706	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	18.2182	0.89893	0.0:0.0:1.0:0.0	.	.	.	.	X	870	.	ENSP00000316357:E870X	E	+	1	0	USP9X	40912387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.756000	0.98918	2.240000	0.73641	0.506000	0.49869	GAG		0.333	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	72	1	0	0.014758	1	0.0148257	5	72				
CROCCP2	84809	broad.mit.edu	37	1	16945236	16945239	+	lincRNA	DEL	TTAT	TTAT	-	rs554386388	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:16945236_16945239delTTAT	ENST00000412962.1	-	0	2280_2283				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGCATTACCTTATTTAAAGTTCA	0.377														107	0.0213658	0.0083	0.0346	5008	,	,		85238	0.0		0.0507	False		,,,				2504	0.0215					ENST00000412962.1																			0																																																			84809							g.chr1:16945236_16945239delTTAT	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945236_16945239delTTAT														0	2280_2283	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.377	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	4						2	4	---	---	---	---
MST1L	11223	broad.mit.edu	37	1	17085255	17085255	+	RNA	DEL	A	A	-	rs2281029|rs367906941	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:17085255delA	ENST00000455405.2	-	0	70							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										TTTGGTGGTGAGGGCTGAGGT	0.592																																						ENST00000455405.2																			0																																																			11223							g.chr1:17085255delA	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085255delA														0	70	-								B7WPB1|Q13209	RNA	DEL	ENST00000455405.2	37																																																																																						0.592	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		7	99						7	99	---	---	---	---
AQP10	89872	broad.mit.edu	37	1	154293656	154293656	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:154293656G>A	ENST00000324978.3	+	1	65	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.E9K	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	9					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCCCCGGCTGAAATCATGGG	0.577																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(25-27)Gaa>Aaa		aquaporin 10							59.0	57.0	58.0					1																	154293656		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154293656G>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.25G>A	1.37:g.154293656G>A	ENSP00000318355:p.Glu9Lys					AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.E9K	p.E9K			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	61	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		9					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.25G>A	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	2.516	-0.311789	0.05422	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.84146	-1.7;-1.81	5.09	-10.2	0.00374	.	2.892530	0.01058	N	0.004580	T	0.18509	0.0444	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20706	-1.0267	10	0.02654	T	1	.	5.6804	0.17771	0.4049:0.3547:0.1725:0.0678	.	9;9	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	K	9	ENSP00000318355:E9K;ENSP00000420341:E9K	ENSP00000318355:E9K	E	+	1	0	AQP10	152560280	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.907000	0.00700	-3.290000	0.00195	0.505000	0.49811	GAA		0.577	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		19	77	0	0	0	1	0	19	77				
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TTGGGGAAAGACTTTATCCAGG	0.436																																						ENST00000411500.1																			0																																																			3128							g.chr6:32521545_32521546insAAGG	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521545_32521546insAAGG								NR_001298.1						0	851	-									RNA	INS	ENST00000411500.1	37																																																																																						0.436	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		2	4						2	4	---	---	---	---
KRT17P4	339186	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-	rs374561720	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:16748911_16748913delGCT	ENST00000578037.1	-	0	593				KRT17P1_ENST00000580363.1_RNA																							CGCCCTCAAAGCTGCTGCTGCCA	0.65														2545	0.508187	0.5053	0.536	5008	,	,		12311	0.4067		0.5686	False		,,,				2504	0.5348					ENST00000580363.1																			0				lung(4)	4																																														147228							g.chr17:16748911_16748913delGCT																													17.37:g.16748917_16748919delGCT														0	282_284	-									RNA	DEL	ENST00000578037.1	37																																																																																						0.650	AC022596.2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444295.1			2	4						2	4	---	---	---	---
