#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
MAP3K19	80122	broad.mit.edu	37	2	135738473	135738473	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:135738473C>T	ENST00000375845.3	-	9	3868	c.3838G>A	c.(3838-3840)Gga>Aga	p.G1280R	MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1167R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G412R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G414R|MAP3K19_ENST00000315513.3_Missense_Mutation_p.G141R|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G462R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CGGTGTGCTCCGATGTAAAAC	0.502																																						ENST00000375845.3											0										c.(3838-3840)Gga>Aga	mitogen-activated protein kinase kinase kinase 19						64.0	56.0	59.0					2																	135738473		2203	4300	6503	SO:0001583	missense	80122						g.chr2:135738473C>T	AK026727	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	26249	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4	"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	12477932	Standard	Standard	NM_001282883	NM_001282883		Approved	FLJ23074	uc002tue.1	uc002tue.1	Q56UN5	Q56UN5	OTTHUMG00000074083	OTTHUMG00000074083	ENST00000375845.3:c.3838G>A	2.37:g.135738473C>T	ENSP00000365005:p.Gly1280Arg		MAP3K19_ENST00000315513.3_Missense_Mutation_p.G141R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G462R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G412R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1167R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G414R	p.G1280R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3					9	3868	-					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3838G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824205	0.90955	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.6	5.6	0.85130	5.6	5.6	0.85130	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	0.43747	D	0.000523	T	0.69214	0.3086	N	0.20304	0.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.998;0.998;1.0	T	0.73748	-0.3885	10	0.87932	D	0	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	412;1167;414;462;1280	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	R	1280;1167;462;414;412;670;141	ENSP00000365005:G1280R;ENSP00000351140:G1167R;ENSP00000365004:G462R;ENSP00000376650:G414R;ENSP00000376649:G412R;ENSP00000392827:G670R;ENSP00000321160:G141R	ENSP00000321160:G141R	G	-	1	0	0	YSK4	135454943	135454943	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.616000	0.83018	2.629000	0.89072	0.591000	0.81541	GGA		0.502	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1		10.729494	1	1	36	36	NM_025052		6	15.42261	15.422610	34	0.150000	0	0	0	1	0	6	34	0.15
MACF1	23499	broad.mit.edu	37	1	39796950	39796950	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:39796950G>C	ENST00000372915.3	+	36	4792	c.4705G>C	c.(4705-4707)Ggc>Cgc	p.G1569R	MACF1_ENST00000564288.1_Missense_Mutation_p.G1564R|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G4R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G1601R|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1569					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATGCAAAAGGGCCTCCTTGA	0.453																																						ENST00000564288.1											0			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4690-4692)Ggc>Cgc	microtubule-actin crosslinking factor 1						60.0	56.0	57.0					1																	39796950		2203	4300	6503	SO:0001583	missense	23499			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39796950G>C	AB007934	AB007934	CCDS435.1	CCDS435.1	1p32-p31	2013-01-10			2013-01-10			ENSG00000127603	ENSG00000127603	ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	"""EF-hand domain containing"""	13664	13664	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271	608271						7635207, 10529403	7635207, 10529403	Standard	Standard	NM_012090	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	uc031pmc.1	Q9UPN3	Q9UPN3	OTTHUMG00000007754	OTTHUMG00000007754	ENST00000372915.3:c.4705G>C	1.37:g.39796950G>C	ENSP00000362006:p.Gly1569Arg		MACF1_ENST00000567887.1_Missense_Mutation_p.G1601R|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G4R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.G1569R	p.G1564R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	5467	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1569		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4690G>C		.	.	.	.	.	.	.	.	.	.	G	17.67	3.447103	0.63178	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.74421	-0.84;-0.84	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000030	D	0.86707	0.5997	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86701	0.1929	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	1569	Q9UPN3	MACF1_HUMAN	R	1569;4	ENSP00000362006:G1569R;ENSP00000289893:G4R	ENSP00000289893:G4R	G	+	1	0	0	MACF1	39569537	39569537	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.750000	0.98875	2.831000	0.97527	0.650000	0.86243	GGC		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		10.855415	14	14	50	50	NM_033044		5	14.238404	14.238404	26	0.161290	0	0	0	1	0	5	26	0.16129
NWD1	284434	broad.mit.edu	37	19	16861023	16861023	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:16861023T>A	ENST00000552788.1	+	4	1570	c.1570T>A	c.(1570-1572)Tgg>Agg	p.W524R	NWD1_ENST00000523826.1_Missense_Mutation_p.W318R|NWD1_ENST00000339803.6_Missense_Mutation_p.W389R|NWD1_ENST00000379808.3_Missense_Mutation_p.W524R|NWD1_ENST00000524140.2_Missense_Mutation_p.W524R|NWD1_ENST00000549814.1_Missense_Mutation_p.W524R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	524	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGATTTGCTCTGGGCCAGCCT	0.637																																						ENST00000524140.2											0			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1570-1572)Tgg>Agg	NACHT and WD repeat domain containing 1						33.0	34.0	33.0					19																	16861023		2202	4298	6500	SO:0001583	missense	284434					ATP binding	g.chr19:16861023T>A	BX648940	BX648940	CCDS32945.1, CCDS32945.2	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09			2013-01-09				ENSG00000188039		ENSG00000188039		"""WD repeat domain containing"""	"""WD repeat domain containing"""	27619	27619	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001007525	NM_001007525		Approved		uc002neu.4	uc002neu.4	Q149M9	Q149M9			ENST00000552788.1:c.1570T>A	19.37:g.16861023T>A	ENSP00000447224:p.Trp524Arg		NWD1_ENST00000379808.3_Missense_Mutation_p.W524R|NWD1_ENST00000339803.6_Missense_Mutation_p.W389R|NWD1_ENST00000549814.1_Missense_Mutation_p.W524R|NWD1_ENST00000552788.1_Missense_Mutation_p.W524R|NWD1_ENST00000523826.1_Missense_Mutation_p.W318R	p.W524R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1988	+			524	NACHT.	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1570T>A		.	.	.	.	.	.	.	.	.	.	t	15.34	2.805787	0.50421	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.55052	0.54;0.6;0.54;0.55;0.6;0.6	5.04	4.02	0.46733	5.04	4.02	0.46733	.	0.242048	0.35207	N	0.003377	T	0.59059	0.2166	L	0.36672	1.1	0.31585	N	0.654591	B;P;D	0.76494	0.251;0.552;0.999	B;B;D	0.85130	0.038;0.157;0.997	T	0.62714	-0.6796	10	0.48119	T	0.1	-19.6071	8.555	0.33476	0.0:0.0933:0.0:0.9067	.	524;524;389	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	389;524;524;524;318;524;389	ENSP00000428579:W524R;ENSP00000447548:W524R;ENSP00000369136:W524R;ENSP00000428955:W318R;ENSP00000447224:W524R;ENSP00000340159:W389R	ENSP00000340159:W389R	W	+	1	0	0	NWD1	16722023	16722023	0.984000	0.35163	0.935000	0.37517	0.659000	0.38960	1.401000	0.34589	0.780000	0.33566	0.448000	0.29417	TGG		0.637	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		-1.610438	-9	-9	38	38	NM_001007525		3	6.608614	6.608614	40	0.069767	0	0	0	1	0	3	40	0.069767
DTNA	1837	broad.mit.edu	37	18	32459684	32459684	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr18:32459684G>A	ENST00000399113.3	+	19	2081		c.e19+1		DTNA_ENST00000598334.1_Splice_Site|DTNA_ENST00000595022.1_Splice_Site|DTNA_ENST00000591182.1_Splice_Site|DTNA_ENST00000601125.1_Splice_Site|DTNA_ENST00000269190.7_Splice_Site|DTNA_ENST00000444659.1_Splice_Site|DTNA_ENST00000590831.2_Splice_Site|DTNA_ENST00000399097.3_Splice_Site|DTNA_ENST00000283365.9_Splice_Site|DTNA_ENST00000556414.3_Splice_Site|DTNA_ENST00000269192.7_Splice_Site|DTNA_ENST00000399121.5_Splice_Site|DTNA_ENST00000598142.1_Splice_Site			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTGGCGACATGTGAGTATCTT	0.423																																						ENST00000283365.9											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.e19+1	dystrobrevin, alpha						58.0	54.0	55.0					18																	32459684		2203	4300	6503	SO:0001630	splice_region_variant	1837			neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32459684G>A	U84540	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			2014-09-17			ENSG00000134769	ENSG00000134769	ENSG00000134769	ENSG00000134769				3057	3057	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	"""dystrophin-related protein 3"""	601239	601239						8081380, 15834686	8081380, 15834686	Standard	Standard	NM_001390	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	uc010dmn.1	Q9Y4J8	Q9Y4J8	OTTHUMG00000132309	OTTHUMG00000132309	ENST00000399113.3:c.2081+1G>A	18.37:g.32459684G>A			DTNA_ENST00000591182.1_Splice_Site|DTNA_ENST00000601125.1_Splice_Site|DTNA_ENST00000269190.7_Splice_Site|DTNA_ENST00000556414.3_Splice_Site|DTNA_ENST00000399121.5_Splice_Site|DTNA_ENST00000598142.1_Splice_Site|DTNA_ENST00000269192.7_Splice_Site|DTNA_ENST00000598334.1_Splice_Site|DTNA_ENST00000399113.3_Splice_Site|DTNA_ENST00000590831.2_Splice_Site|DTNA_ENST00000399097.3_Splice_Site|DTNA_ENST00000595022.1_Splice_Site|DTNA_ENST00000444659.1_Splice_Site		NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			19	2261	+					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Splice_Site	SNP	ENST00000399113.3	37		CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701312	0.30142	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0969	0.86637	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DTNA	30713682	30713682	1.000000	0.71417	0.953000	0.39169	0.068000	0.16541	7.003000	0.76310	2.545000	0.85829	0.655000	0.94253	.		0.423	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		20.650755	6	6	41	41	NM_001390	Intron	9	23.817959	23.817959	33	0.214286	0	0	0	1	0	9	33	0.214286
GOLGA2P9	440518	broad.mit.edu	37	19	22785642	22785642	+	RNA	SNP	G	G	A	rs564609140		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:22785642G>A	ENST00000599738.1	+	0	0				CTC-457E21.3_ENST00000600260.1_RNA|AC011467.1_ENST00000408863.1_RNA|RN7SL860P_ENST00000473738.2_RNA																							GAGCAGCACCGAGAGGAGGAG	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		18419	0.001		0.0	False		,,,				2504	0.0					ENST00000600260.1											0																																																0						g.chr19:22785642G>A																																																		19.37:g.22785642G>A					NR_033899.1						0	1649	+						RNA	SNP	ENST00000599738.1	37																																																																																											0.672	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000464575.1		10.996514	6	6	19	19			4	11.176661	11.176661	7	0.363636	0	0	0	1	0	4	7	0.363636
BPIFB1	92747	broad.mit.edu	37	20	31890861	31890861	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr20:31890861C>T	ENST00000253354.1	+	11	1282	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	374					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCCCTCCGCCCTTTGTTCACC	0.532																																						ENST00000253354.1											0										c.(1120-1122)cCt>cTt	BPI fold containing family B, member 1						109.0	90.0	96.0					20																	31890861		2203	4300	6503	SO:0001583	missense	92747				extracellular space	lipid binding	g.chr20:31890861C>T	BC008429	BC008429	CCDS13218.1	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	"""BPI fold containing"""	16108	16108	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""	"""von Ebner minor salivary gland protein"""			"""chromosome 20 open reading frame 114"""	C20orf114	"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	11971875, 21787333	Standard	Standard	NM_033197	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	uc002wyw.1	Q8TDL5	Q8TDL5	OTTHUMG00000032252	OTTHUMG00000032252	ENST00000253354.1:c.1121C>T	20.37:g.31890861C>T	ENSP00000253354:p.Pro374Leu		BPIFB1_ENST00000464032.1_3'UTR	p.P374L	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			11	1282	+			374		A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.1121C>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854591	0.71719	.	.	ENSG00000125999	ENST00000253354	T	0.09163	3.01	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.091223	0.48767	D	0.000161	T	0.32194	0.0821	M	0.72894	2.215	0.43703	D	0.996166	D	0.89917	1.0	D	0.97110	1.0	T	0.01114	-1.1447	10	0.87932	D	0	-35.3612	14.2532	0.66033	0.0:1.0:0.0:0.0	.	374	Q8TDL5	BPIB1_HUMAN	L	374	ENSP00000253354:P374L	ENSP00000253354:P374L	P	+	2	0	0	BPIFB1	31354522	31354522	0.437000	0.25593	0.852000	0.33557	0.121000	0.20230	3.320000	0.51991	2.742000	0.94016	0.455000	0.32223	CCT		0.532	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2		-7.463367	-13	-13	88	88	NM_033197		4	8.883091	8.883091	73	0.051948	0	0	0	1	0	4	73	0.051948
RPS6KA6	27330	broad.mit.edu	37	X	83374915	83374915	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chrX:83374915C>G	ENST00000262752.2	-	9	774	c.767G>C	c.(766-768)tGg>tCg	p.W256S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W256S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	256	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATATGACCACCAATCAGCACT	0.338																																						ENST00000262752.2											0			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(766-768)tGg>tCg	ribosomal protein S6 kinase, 90kDa, polypeptide 6						82.0	72.0	75.0					X																	83374915		2203	4299	6502	SO:0001583	missense	27330			axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83374915C>G	AF184965	AF184965	CCDS14451.1	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133	ENSG00000072133	ENSG00000072133				10435	10435	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300303	300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""		"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	10644430	Standard	Standard	NM_014496	NM_014496		Approved	RSK4	uc004eej.2	uc004eej.2	Q9UK32	Q9UK32	OTTHUMG00000021923	OTTHUMG00000021923	ENST00000262752.2:c.767G>C	X.37:g.83374915C>G	ENSP00000262752:p.Trp256Ser		RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W256S	p.W256S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			9	774	-			256	Protein kinase 1.	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.767G>C	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021606	0.75275	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.24723	1.84;1.84	5.42	5.42	0.78866	5.42	5.42	0.78866	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	0.85682	D	0.000000	T	0.56934	0.2019	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.63875	-0.6538	10	0.87932	D	0	.	18.2405	0.89966	0.0:1.0:0.0:0.0	.	256;256	B7ZL90;Q9UK32	.;KS6A6_HUMAN	S	256	ENSP00000262752:W256S;ENSP00000440830:W256S	ENSP00000262752:W256S	W	-	2	0	0	RPS6KA6	83261571	83261571	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.642000	0.83385	2.245000	0.73994	0.600000	0.82982	TGG		0.338	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1		73.291220	-64	-64	82	82	NM_014496		24	73.540395	73.540395	32	0.428571	0	0	0	1	0	24	32	0.428571
ZNF197	10168	broad.mit.edu	37	3	44670659	44670659	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr3:44670659A>G	ENST00000396058.1	+	1	180	c.13A>G	c.(13-15)Aat>Gat	p.N5D	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383744.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383745.2_Missense_Mutation_p.N5D			O14709	ZN197_HUMAN	zinc finger protein 197	5					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)		GACAAGAGAAAATGTAGCCCA	0.458																																						ENST00000396058.1											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(13-15)Aat>Gat	zinc finger protein 197						111.0	120.0	117.0					3																	44670659		2203	4300	6503	SO:0001583	missense	10168			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44670659A>G	AF011573	AF011573	CCDS2717.1, CCDS33743.1	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448	ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	12988	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger protein 166"""	ZNF166	"""zinc finger protein 166"""	ZNF166		9380504, 8353497	9380504, 8353497	Standard	Standard	XM_005264783	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	uc003cnm.3	O14709	O14709	OTTHUMG00000133089	OTTHUMG00000133089	ENST00000396058.1:c.13A>G	3.37:g.44670659A>G	ENSP00000379370:p.Asn5Asp		RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383745.2_Missense_Mutation_p.N5D|ZNF197_ENST00000344387.4_Missense_Mutation_p.N5D	p.N5D			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	1	180	+			5		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.13A>G	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819714	0.71028	.	.	ENSG00000186448	ENST00000412641;ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T;T	0.10763	2.84;5.66;3.37;5.66;3.37	4.23	4.23	0.50019	4.23	4.23	0.50019	.	0.836377	0.09995	N	0.729217	T	0.14485	0.0350	N	0.08118	0	0.22389	N	0.999141	P;D	0.58268	0.877;0.982	B;D	0.67548	0.339;0.952	T	0.36114	-0.9761	10	0.48119	T	0.1	.	9.8955	0.41316	1.0:0.0:0.0:0.0	.	5;5	Q86VG0;O14709	.;ZN197_HUMAN	D	5	ENSP00000394713:N5D;ENSP00000373250:N5D;ENSP00000345809:N5D;ENSP00000373251:N5D;ENSP00000379370:N5D	ENSP00000334616:N5D	N	+	1	0	0	ZNF197	44645663	44645663	0.912000	0.30974	0.909000	0.35828	0.955000	0.61496	2.213000	0.42844	1.914000	0.55421	0.459000	0.35465	AAT		0.458	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4		46.075024	0	0	105	105	NM_006991		16	48.859775	48.859775	43	0.271186	0	0	0	1	0	16	43	0.271186
ITPR2	3709	broad.mit.edu	37	12	26943118	26943118	+	Silent	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr12:26943118G>A	ENST00000381340.3	-	2	551	c.135C>T	c.(133-135)gaC>gaT	p.D45D	ITPR2_ENST00000242737.5_Silent_p.D45D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	45					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGTTGGCAAGGTCCCCGGCCT	0.393																																						ENST00000381340.3											0			biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(133-135)gaC>gaT	inositol 1,4,5-trisphosphate receptor, type 2						96.0	94.0	95.0					12																	26943118		1899	4140	6039	SO:0001819	synonymous_variant	3709			activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26943118G>A	D26350	D26350	CCDS41764.1	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	"""Ion channels / Inositol triphosphate receptors"""	6181	6181	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	"""cilia and flagella associated protein 48"""	600144	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""		"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	8081734	Standard	Standard	XM_006719064	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	uc001rhg.3	Q14571	Q14571	OTTHUMG00000169181	OTTHUMG00000169181	ENST00000381340.3:c.135C>T	12.37:g.26943118G>A			ITPR2_ENST00000242737.5_Silent_p.D45D	p.D45D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			2	551	-	Colorectal(261;0.0847)		45		O94773	Silent	SNP	ENST00000381340.3	37	c.135C>T	CCDS41764.1																																																																																									0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		35.989786	13	13	95	95	NM_002223		15	40.876496	40.876496	53	0.220588	0	0	0	1	0	15	53	0.220588
GDAP1L1	78997	broad.mit.edu	37	20	42907913	42907913	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr20:42907913C>T	ENST00000342560.5	+	6	1165	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	GDAP1L1_ENST00000537864.1_Silent_p.Y167Y	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	359										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACTTTGCCTACTGGTACCTCA	0.562																																						ENST00000342560.5											0			endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(1075-1077)taC>taT	ganglioside induced differentiation associated protein 1-like 1						93.0	87.0	89.0					20																	42907913		2203	4300	6503	SO:0001819	synonymous_variant	78997						g.chr20:42907913C>T			CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194	ENSG00000124194	ENSG00000124194				4213	4213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_024034	NM_024034		Approved		uc010zwl.3	uc010zwl.3	Q96MZ0	Q96MZ0	OTTHUMG00000032530	OTTHUMG00000032530	ENST00000342560.5:c.1077C>T	20.37:g.42907913C>T			GDAP1L1_ENST00000537864.1_Silent_p.Y167Y	p.Y359Y	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1165	+		Myeloproliferative disorder(115;0.0122)	359		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	ENST00000342560.5	37	c.1077C>T	CCDS13328.1																																																																																									0.562	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1		32.744912	29	29	123	123	NM_024034		16	41.977211	41.977211	76	0.173913	0	0	0	1	0	16	76	0.173913
WDR25	79446	broad.mit.edu	37	14	100996252	100996252	+	Silent	SNP	C	C	T	rs148470180	byFrequency	TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr14:100996252C>T	ENST00000335290.6	+	7	1735	c.1509C>T	c.(1507-1509)cgC>cgT	p.R503R	WDR25_ENST00000554998.1_Silent_p.R503R|WDR25_ENST00000542471.2_Silent_p.R246R|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R503R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	503										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ACAGCTTCCGCACAGCCAGCC	0.677																																						ENST00000335290.6											0			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1507-1509)cgC>cgT	WD repeat domain 25						77.0	74.0	75.0					14																	100996252		2203	4300	6503	SO:0001819	synonymous_variant	79446						g.chr14:100996252C>T	BC007953	BC007953	CCDS32157.1	CCDS32157.1	14q32.32	2013-01-09			2013-01-09				ENSG00000176473		ENSG00000176473		"""WD repeat domain containing"""	"""WD repeat domain containing"""	21064	21064	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 14 open reading frame 67"""	C14orf67	"""chromosome 14 open reading frame 67"""	C14orf67		15587985	15587985	Standard	Standard	NM_001161476	NM_001161476		Approved	MGC4645	uc001yhn.3	uc001yhn.3	Q64LD2	Q64LD2			ENST00000335290.6:c.1509C>T	14.37:g.100996252C>T			WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R503R|WDR25_ENST00000554998.1_Silent_p.R503R|WDR25_ENST00000542471.2_Silent_p.R246R	p.R503R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			7	1735	+		Melanoma(154;0.212)	503		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	c.1509C>T	CCDS32157.1																																																																																									0.677	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1		28.535980	12	12	91	91	NM_024515		13	33.978589	33.978589	52	0.200000	0	0	0	1	0	13	52	0.2
VGLL2	245806	broad.mit.edu	37	6	117589488	117589488	+	Silent	SNP	A	A	C			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	75					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAGAGCGCCCACCAGAGGCAG	0.577																																						ENST00000326274.5											0			central_nervous_system(1)|kidney(1)|lung(3)	5						c.(223-225)ccA>ccC	vestigial like 2 (Drosophila)						103.0	118.0	113.0					6																	117589488		2203	4300	6503	SO:0001819	synonymous_variant	245806			transcription, DNA-dependent	nucleus		g.chr6:117589488A>C	AY056583	AY056583	CCDS5114.1, CCDS5115.1	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162	ENSG00000170162	ENSG00000170162				20232	20232	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609979	609979	"""vestigial like 2 (Drosophila)"""		"""vestigial like 2 (Drosophila)"""			12376544	12376544	Standard	Standard	NM_153453	NM_153453		Approved		uc003pxn.3	uc003pxn.3	Q8N8G2	Q8N8G2	OTTHUMG00000015451	OTTHUMG00000015451	ENST00000326274.5:c.225A>C	6.37:g.117589488A>C			VGLL2_ENST00000352536.3_Silent_p.P75P	p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	2	415	+			75		Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.225A>C	CCDS5115.1																																																																																									0.577	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2		-12.215597	-10	-10	160	160	NM_153453		8	7.970383	7.970383	99	0.074766	0	0	0	1	0	8	99	0.074766
CACNA1A	773	broad.mit.edu	37	19	13322958	13322958	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:13322958C>G	ENST00000360228.5	-	43	6261	c.6262G>C	c.(6262-6264)Ggc>Cgc	p.G2088R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G2089R	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	2089					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)	GCAGCCCGGCCCTGGCCTTCC	0.647																																						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.(6262-6264)Ggc>Cgc	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit						35.0	37.0	36.0					19																	13322958		2052	4194	6246	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.chr19:13322958C>G	U79666	U79666	CCDS45998.1, CCDS45999.1	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			2014-09-17			ENSG00000141837	ENSG00000141837	ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	1388	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601011	601011		CACNL1A4, SCA6, MHP1, MHP		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	8825650, 16382099, 23827678	Standard	Standard	NM_000068	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	uc010xne.2	O00555	O00555	OTTHUMG00000044590	OTTHUMG00000044590	ENST00000360228.5:c.6262G>C	19.37:g.13322958C>G	ENSP00000353362:p.Gly2088Arg		CACNA1A_ENST00000573710.2_Missense_Mutation_p.G2089R	p.G2088R	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)		43	6261	-			2089		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.6262G>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673063	0.47781	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.77750	-1.12	4.45	2.3	0.28687	4.45	2.3	0.28687	.	0.628034	0.12091	U	0.500407	T	0.82231	0.4992	M	0.78456	2.415	0.35816	D	0.82425	B;P;B;B	0.35527	0.065;0.507;0.151;0.373	B;P;B;B	0.46629	0.075;0.522;0.212;0.221	T	0.82442	-0.0455	10	0.87932	D	0	.	8.7467	0.34591	0.0:0.8061:0.0:0.1939	.	2089;2094;2088;2089	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	R	2088;2094;2089;2089	ENSP00000353362:G2088R	ENSP00000317661:G2089R	G	-	1	0	0	CACNA1A	13183958	13183958	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	3.600000	0.54052	0.325000	0.23359	-0.350000	0.07774	GGC		0.647	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		-3.415979	-8	-8	42	42	NM_000068		3	6.70543	6.705430	47	0.060000	0	0	0	1	0	3	47	0.06
RAB11FIP5	26056	broad.mit.edu	37	2	73316089	73316089	+	Silent	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:73316089G>A	ENST00000258098.6	-	2	1026	c.786C>T	c.(784-786)agC>agT	p.S262S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	262					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCAAGCTCCCGCTGGCTGAGG	0.647																																						ENST00000258098.6											0			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(784-786)agC>agT	RAB11 family interacting protein 5 (class I)						50.0	49.0	49.0					2																	73316089		2203	4300	6503	SO:0001819	synonymous_variant	26056			protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316089G>A	AF334812	AF334812	CCDS1923.1	CCDS1923.1	2p13	2008-02-05			2008-02-05			ENSG00000135631	ENSG00000135631	ENSG00000135631	ENSG00000135631				24845	24845	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605536	605536						10048485, 11163216	10048485, 11163216	Standard	Standard	NM_015470	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	uc002sis.4	Q9BXF6	Q9BXF6	OTTHUMG00000129779	OTTHUMG00000129779	ENST00000258098.6:c.786C>T	2.37:g.73316089G>A			RAB11FIP5_ENST00000493523.2_5'UTR	p.S262S	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	1026	-			262		O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.786C>T	CCDS1923.1																																																																																									0.647	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1		14.768037	5	5	54	54	NM_015470		8	20.497255	20.497255	43	0.156863	0	0	0	1	0	8	43	0.156863
AKAP9	10142	broad.mit.edu	37	7	91659258	91659258	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr7:91659258A>G	ENST00000359028.2	+	16	4459	c.4234A>G	c.(4234-4236)Atg>Gtg	p.M1412V	AKAP9_ENST00000356239.3_Missense_Mutation_p.M1400V|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1412V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1412					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAGAACAATGTACCCTGG	0.284			T	BRAF	papillary thyroid																																	ENST00000359028.2		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4234-4236)Atg>Gtg	A kinase (PRKA) anchor protein 9						117.0	125.0	122.0					7																	91659258		2203	4299	6502	SO:0001583	missense	10142			G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91659258A>G	AF091711	AF091711	CCDS5622.1	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001	604001						9482789, 10390370, 24475373	9482789, 10390370, 24475373	Standard	Standard	NM_147185	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	uc003ulg.3	Q99996	Q99996	OTTHUMG00000131127	OTTHUMG00000131127	ENST00000359028.2:c.4234A>G	7.37:g.91659258A>G	ENSP00000351922:p.Met1412Val		AKAP9_ENST00000356239.3_Missense_Mutation_p.M1400V|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1412V	p.M1412V			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	4459	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1412		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.4234A>G		.	.	.	.	.	.	.	.	.	.	A	0.526	-0.859961	0.02610	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02631	4.22;4.22;4.22	4.2	-7.84	0.01196	4.2	-7.84	0.01196	.	1.213510	0.06130	N	0.670473	T	0.00906	0.0030	N	0.00483	-1.445	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.50083	-0.8869	10	0.02654	T	1	.	16.1099	0.81255	0.2421:0.0:0.7579:0.0	.	1412;1400;1400;1412	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	V	1400;1412;1412;1412;1412	ENSP00000348573:M1400V;ENSP00000351922:M1412V;ENSP00000350813:M1412V	ENSP00000348573:M1400V	M	+	1	0	0	AKAP9	91497194	91497194	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-1.790000	0.01759	-1.748000	0.01332	-0.361000	0.07541	ATG		0.284	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			32.736614	-4	-4	105	105	NM_005751		13	38.587643	38.587643	54	0.194030	0	0	0	1	0	13	54	0.19403
CLCN5	1184	broad.mit.edu	37	X	49845342	49845342	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chrX:49845342C>T	ENST00000307367.2	+	5	776	c.485C>T	c.(484-486)gCg>gTg	p.A162V	CLCN5_ENST00000376088.3_Missense_Mutation_p.A232V|CLCN5_ENST00000376091.3_Missense_Mutation_p.A232V|CLCN5_ENST00000376108.3_Missense_Mutation_p.A162V			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	162					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AAGGTGTTTGCGCCTTATGCC	0.413																																						ENST00000376088.3											0			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(694-696)gCg>gTg	chloride channel, voltage-sensitive 5						193.0	146.0	162.0					X																	49845342		2203	4300	6503	SO:0001583	missense	1184			excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49845342C>T	X91906	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365	ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	2023	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Dent disease"""	"""Dent disease"""	300008	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	7874126, 8111383, 8099916, 8559248, 9602200	Standard	Standard	NM_001272102	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	uc004doq.1	P51795	P51795	OTTHUMG00000021514	OTTHUMG00000021514	ENST00000307367.2:c.485C>T	X.37:g.49845342C>T	ENSP00000304257:p.Ala162Val		CLCN5_ENST00000376091.3_Missense_Mutation_p.A232V|CLCN5_ENST00000307367.2_Missense_Mutation_p.A162V|CLCN5_ENST00000376108.3_Missense_Mutation_p.A162V	p.A232V	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			8	1336	+	Ovarian(276;0.236)		162		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.695C>T	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356618	0.95854	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.45	5.45	0.79879	5.45	5.45	0.79879	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.983;0.991	D	0.98166	1.0449	10	0.49607	T	0.09	.	16.9775	0.86317	0.0:1.0:0.0:0.0	.	162;232	P51795;P51795-2	CLCN5_HUMAN;.	V	232;64;232;162;162	ENSP00000365256:A232V;ENSP00000365259:A232V;ENSP00000365276:A162V;ENSP00000304257:A162V	ENSP00000304257:A162V	A	+	2	0	0	CLCN5	49732082	49732082	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	7.692000	0.84203	2.270000	0.75569	0.594000	0.82650	GCG		0.413	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		-5.222240	-53	-53	61	61			3	6.829518	6.829518	54	0.052632	0	0	0	1	0	3	54	0.052632
MCHR2	84539	broad.mit.edu	37	6	100369077	100369077	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr6:100369077C>T	ENST00000281806.2	-	6	1076	c.762G>A	c.(760-762)ctG>ctA	p.L254L	MCHR2_ENST00000369212.2_Silent_p.L254L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCACCAGCACCAGCACCATCT	0.458																																						ENST00000281806.2											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(760-762)ctG>ctA	melanin-concentrating hormone receptor 2						207.0	192.0	197.0					6																	100369077		2203	4300	6503	SO:0001819	synonymous_variant	84539				integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100369077C>T	AF347063	AF347063	CCDS5044.1	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	"""GPCR / Class A : MCH receptors"""	20867	20867	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606111	606111	"""G protein-coupled receptor 145"""	GPR145	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	11355873, 11274220	Standard	Standard	NM_032503	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	uc003pqi.1	Q969V1	Q969V1	OTTHUMG00000015270	OTTHUMG00000015270	ENST00000281806.2:c.762G>A	6.37:g.100369077C>T			MCHR2_ENST00000369212.2_Silent_p.L254L	p.L254L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	1076	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	254		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.762G>A	CCDS5044.1																																																																																									0.458	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2		25.124616	2	2	114	114	NM_032503		13	33.122914	33.122914	64	0.168831	0	0	0	1	0	13	64	0.168831
TEP1	7011	ucsc.edu	37	14	20837006	20837006	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr14:20837006G>T	ENST00000262715.5	-	54	7752	c.7712C>A	c.(7711-7713)gCt>gAt	p.A2571D	TEP1_ENST00000556935.1_Missense_Mutation_p.A2463D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2571					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCCTTCGAAGCTGTCACCAG	0.542																																																	0																	109.0	83.0	92.0					14																	20837006		2203	4300	6503	SO:0001583	missense	7011									CCDS9548.1	CCDS9548.1	14q11.2	2013-01-10			2013-01-10			ENSG00000129566	ENSG00000129566	ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	"""WD repeat domain containing"""	11726	11726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	"""TROVE domain family, member 1"""	601686	601686						9403057	9403057	Standard	Standard	NM_007110	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	uc001vxe.3	Q99973	Q99973	OTTHUMG00000029515	OTTHUMG00000029515	ENST00000262715.5:c.7712C>A	14.37:g.20837006G>T	ENSP00000262715:p.Ala2571Asp																	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37		CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422869	0.83559	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.65364	-0.15;-0.15	5.71	4.8	0.61643	5.71	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.72894	2.215	0.80722	D	1	D;D	0.63046	0.989;0.992	P;D	0.65443	0.892;0.935	T	0.79347	-0.1841	10	0.87932	D	0	-5.4705	13.7739	0.63041	0.0:0.1542:0.8458:0.0	.	2463;2571	G3V5X7;Q99973	.;TEP1_HUMAN	D	2571;2563;2463	ENSP00000262715:A2571D;ENSP00000452574:A2463D	ENSP00000262715:A2571D	A	-	2	0	0	TEP1	19906846	19906846	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.363000	0.52321	1.381000	0.46364	0.591000	0.81541	GCT		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2			1	1	39	39	NM_007110		4			21							4	21	
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		43.167001	-28	-28	84	84	NM_002072		16	47.159472	47.159472	50	0.242424	0	0	0	1	0	16	50	0.242424
DYSF	8291	broad.mit.edu	37	2	71755450	71755450	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:71755450C>T	ENST00000258104.3	+	13	1480	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	DYSF_ENST00000410041.1_Silent_p.N433N|DYSF_ENST00000409762.1_Silent_p.N432N|DYSF_ENST00000394120.2_Silent_p.N402N|DYSF_ENST00000409582.3_Silent_p.N432N|DYSF_ENST00000409366.1_Silent_p.N402N|DYSF_ENST00000429174.2_Silent_p.N401N|DYSF_ENST00000413539.2_Silent_p.N432N|DYSF_ENST00000409744.1_Silent_p.N402N|DYSF_ENST00000410020.3_Silent_p.N433N|DYSF_ENST00000409651.1_Silent_p.N433N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	401	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGATGGACAACGTGAAACAGA	0.537																																						ENST00000258104.3											0			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(1201-1203)aaC>aaT	dysferlin						128.0	95.0	106.0					2																	71755450		2203	4300	6503	SO:0001819	synonymous_variant	8291				cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71755450C>T	AF075575	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	ENSG00000135636	ENSG00000135636				3097	3097	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	"""fer-1-like family member 1"""	603009	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	8320700	Standard	Standard	NM_003494	NM_003494		Approved	FER1L1	uc010fen.3	uc010fen.3	O75923	O75923	OTTHUMG00000129757	OTTHUMG00000129757	ENST00000258104.3:c.1203C>T	2.37:g.71755450C>T			DYSF_ENST00000409744.1_Silent_p.N402N|DYSF_ENST00000409582.3_Silent_p.N432N|DYSF_ENST00000429174.2_Silent_p.N401N|DYSF_ENST00000413539.2_Silent_p.N432N|DYSF_ENST00000409762.1_Silent_p.N432N|DYSF_ENST00000394120.2_Silent_p.N402N|DYSF_ENST00000409366.1_Silent_p.N402N|DYSF_ENST00000409651.1_Silent_p.N433N|DYSF_ENST00000410020.3_Silent_p.N433N|DYSF_ENST00000410041.1_Silent_p.N433N	p.N401N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			13	1480	+			401	C2 3.	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.1203C>T	CCDS1918.1																																																																																									0.537	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		10.492243	1	1	24	24	NM_003494		4	11.401236	11.401236	12	0.250000	0	0	0	1	0	4	12	0.25
ANKRD20A11P	391267	broad.mit.edu	37	21	15352075	15352075	+	RNA	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr21:15352075G>A	ENST00000344693.5	-	0	683					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		GCCAGACAGCGCTCCATCTCC	0.667																																						ENST00000344693.5											0																																																0						g.chr21:15352075G>A					21q11.2	2011-11-23			2011-11-23			ENSG00000215559	ENSG00000215559	ENSG00000215559	ENSG00000215559				42024	42024	pseudogene	pseudogene	pseudogene	pseudogene					"""chromosome 21 open reading frame 81"""	C21orf81	"""chromosome 21 open reading frame 81"""	C21orf81				Standard	Standard	NR_027270	NR_027270		Approved		uc002yjj.4	uc002yjj.4			OTTHUMG00000074237	OTTHUMG00000074237		21.37:g.15352075G>A					NR_027270.1						0	683	-						RNA	SNP	ENST00000344693.5	37																																																																																											0.667	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1		5.980328	5	5	27	27			4	9.657279	9.657279	25	0.137931	0	0	0	1	0	4	25	0.137931
TTN	7273	broad.mit.edu	37	2	179583473	179583473	+	Missense_Mutation	SNP	C	C	T	rs397517507		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:179583473C>T	ENST00000591111.1	-	82	23727	c.23503G>A	c.(23503-23505)Gtt>Att	p.V7835I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6908I|TTN_ENST00000589042.1_Missense_Mutation_p.V8152I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13374	Ig-like 60.				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)			TCATTTGTAACGAGGCAAGAA	0.423																																						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.(24454-24456)Gtt>Att	titin						76.0	77.0	77.0					2																	179583473		1988	4166	6154	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583473C>T	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.23503G>A	2.37:g.179583473C>T	ENSP00000465570:p.Val7835Ile		TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6908I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7835I|TTN-AS1_ENST00000585451.1_RNA	p.V8152I	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)		84	24678	-			7835	Ig-like 64.	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.24454G>A		.	.	.	.	.	.	.	.	.	.	C	10.01	1.233408	0.22626	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	6.01	6.01	0.97437	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66616	0.2807	L	0.49350	1.555	0.39248	D	0.963987	B	0.16603	0.018	B	0.18263	0.021	T	0.65286	-0.6205	9	0.87932	D	0	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	7835	Q8WZ42	TITIN_HUMAN	I	6908	ENSP00000343764:V6908I	ENSP00000343764:V6908I	V	-	1	0	0	TTN	179291718	179291718	0.429000	0.25530	0.598000	0.28837	0.995000	0.86356	1.079000	0.30766	2.861000	0.98227	0.650000	0.86243	GTT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		28.469555	25	25	90	90	NM_133378		12	32.690766	32.690766	44	0.214286	0	0	0	1	0	12	44	0.214286
HHAT	55733	broad.mit.edu	37	1	210522378	210522378	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:210522378A>G	ENST00000367010.1	+	2	286	c.59A>G	c.(58-60)tAt>tGt	p.Y20C	HHAT_ENST00000541565.1_Missense_Mutation_p.Y20C|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000537898.1_Missense_Mutation_p.Y20C|HHAT_ENST00000391905.3_Missense_Mutation_p.Y20C|HHAT_ENST00000261458.3_Missense_Mutation_p.Y20C|HHAT_ENST00000413764.2_Missense_Mutation_p.Y20C|HHAT_ENST00000545154.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	20					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TTCCACTTCTATTCCTTCTAT	0.493																																						ENST00000367010.1											0			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(58-60)tAt>tGt	hedgehog acyltransferase						117.0	100.0	106.0					1																	210522378		2203	4300	6503	SO:0001583	missense	55733			multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210522378A>G	AK001586	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			2008-02-05			ENSG00000054392	ENSG00000054392	ENSG00000054392	ENSG00000054392				18270	18270	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605743	605743						11160356	11160356	Standard	Standard	NM_001170587	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	uc009xcx.3	Q5VTY9	Q5VTY9	OTTHUMG00000036447	OTTHUMG00000036447	ENST00000367010.1:c.59A>G	1.37:g.210522378A>G	ENSP00000355977:p.Tyr20Cys		HHAT_ENST00000541565.1_Missense_Mutation_p.Y20C|HHAT_ENST00000537898.1_Missense_Mutation_p.Y20C|HHAT_ENST00000261458.3_Missense_Mutation_p.Y20C|HHAT_ENST00000391905.3_Missense_Mutation_p.Y20C|HHAT_ENST00000413764.2_Missense_Mutation_p.Y20C|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron	p.Y20C	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	2	286	+			20		B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.59A>G	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	a	17.80	3.479094	0.63849	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000537898;ENST00000391905;ENST00000261458;ENST00000367010	T;T;T;T;T;T	0.58210	2.01;0.35;1.62;1.99;2.01;2.01	5.01	3.89	0.44902	5.01	3.89	0.44902	.	0.133891	0.52532	D	0.000080	T	0.62672	0.2447	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.986;0.986;0.998	P;P;D	0.66602	0.754;0.754;0.945	T	0.61108	-0.7129	10	0.48119	T	0.1	-4.3791	7.9863	0.30213	0.9024:0.0:0.0976:0.0	.	20;20;20	B7Z4D5;B7Z5I1;Q5VTY9	.;.;HHAT_HUMAN	C	20	ENSP00000416845:Y20C;ENSP00000444995:Y20C;ENSP00000442625:Y20C;ENSP00000375773:Y20C;ENSP00000261458:Y20C;ENSP00000355977:Y20C	ENSP00000261458:Y20C	Y	+	2	0	0	HHAT	208589001	208589001	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.407000	0.52644	0.880000	0.35969	0.533000	0.62120	TAT		0.493	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1		42.399675	12	12	63	63	NM_018194		15	45.290755	45.290755	42	0.263158	0	0	0	1	0	15	42	0.263158
MROH2B	133558	broad.mit.edu	37	5	41039566	41039566	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr5:41039566delA	ENST00000399564.4	-	20	2495	c.2045delT	c.(2044-2046)ttcfs	p.F682fs	MROH2B_ENST00000506092.2_Frame_Shift_Del_p.F237fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	682																	TCGATTCATGAAAAACTTTTC	0.323																																						ENST00000399564.4											0										c.(2044-2046)ttcfs	maestro heat-like repeat family member 2B						46.0	44.0	45.0					5																	41039566		1823	4071	5894	SO:0001589	frameshift_variant	133558						g.chr5:41039566delA			CCDS47202.1	CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	"""maestro heat-like repeat containing"""	26857	26857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""HEAT repeat family member 7B2"""	HEATR7B2	"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	12477932	Standard	Standard	NM_173489	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	uc003jmj.4	Q7Z745	Q7Z745	OTTHUMG00000162151	OTTHUMG00000162151	ENST00000399564.4:c.2045delT	5.37:g.41039566delA	ENSP00000382476:p.Phe682fs		MROH2B_ENST00000506092.2_Frame_Shift_Del_p.F237fs	p.F682fs	NM_173489.4	NP_775760.3					20	2495	-					Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Del	DEL	ENST00000399564.4	37	c.2045delT	CCDS47202.1																																																																																									0.323	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	.	.	1	1	11	11	NM_173489		5			7	0.42						5	7	0.42
PANK4	55229	broad.mit.edu	37	1	2451274	2451274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:2451274delG	ENST00000378466.3	-	6	831	c.819delC	c.(817-819)gccfs	p.A273fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.A234fs|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	273					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAGCTGCTGGCGATGAGGT	0.682																																						ENST00000378466.3											0			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(817-819)gccfs	pantothenate kinase 4						18.0	22.0	21.0					1																	2451274		2178	4274	6452	SO:0001589	frameshift_variant	55229			coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2451274delG	AK001644	AK001644	CCDS42.1	CCDS42.1	1p36.32	2008-02-05			2008-02-05			ENSG00000157881	ENSG00000157881	ENSG00000157881	ENSG00000157881				19366	19366	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606162	606162						11479594	11479594	Standard	Standard	XR_241034	XR_241034		Approved	FLJ10782	uc001ajm.1	uc001ajm.1	Q9NVE7	Q9NVE7	OTTHUMG00000000791	OTTHUMG00000000791	ENST00000378466.3:c.819delC	1.37:g.2451274delG	ENSP00000367727:p.Ala273fs		PANK4_ENST00000435556.3_Frame_Shift_Del_p.A234fs	p.A273fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	6	831	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	273		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Frame_Shift_Del	DEL	ENST00000378466.3	37	c.819delC	CCDS42.1																																																																																									0.682	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1	.	.	3	3	11	11			2			4	0.33						2	4	0.33
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2											0			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)aggfs	protein kinase, DNA-activated, catalytic polypeptide						248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591			cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT			CCDS75734.1, CCDS75735.1	CCDS75734.1, CCDS75735.1	8q11	2014-09-17			2014-09-17				ENSG00000253729		ENSG00000253729	2.7.11.1			9413	9413	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600899	600899		HYRC, HYRC1		HYRC, HYRC1		7638222	7638222	Standard	Standard	NM_001081640	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	uc003xqi.3	P78527	P78527			ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs		PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704	KIP-binding.	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																										0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		.	.	-6	-6	285	285	NM_001081640		7			386	0.02						7	386	0.02
