#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
NBN	4683	broad.mit.edu	37	8	90982757	90982757	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr8:90982757A>G	ENST00000265433.3	-	7	885	c.731T>C	c.(730-732)tTt>tCt	p.F244S	NBN_ENST00000409330.1_Missense_Mutation_p.F162S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	244	Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CCCACCTCCAAAGACAACTGC	0.343								Homologous recombination																														ENST00000265433.3											0			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(730-732)tTt>tCt	nibrin						72.0	70.0	71.0					8																	90982757		2203	4300	6503	SO:0001583	missense	4683			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90982757A>G	AF058696	AF058696	CCDS6249.1	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320	ENSG00000104320	ENSG00000104320				7652	7652	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602667	602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	9590181, 9590180	Standard	Standard	XM_005250923	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	uc003yej.1	O60934	O60934	OTTHUMG00000153546	OTTHUMG00000153546	ENST00000265433.3:c.731T>C	8.37:g.90982757A>G	ENSP00000265433:p.Phe244Ser		NBN_ENST00000409330.1_Missense_Mutation_p.F162S	p.F244S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		7	885	-			244		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.731T>C	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256243	0.39896	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000519426;ENST00000517772	T;T;T;T	0.73681	0.29;0.25;-0.77;-0.49	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.180545	0.52532	D	0.000070	T	0.70518	0.3233	L	0.39633	1.23	0.39461	D	0.967569	P;P	0.42357	0.777;0.777	B;B	0.43575	0.424;0.424	T	0.75800	-0.3190	10	0.72032	D	0.01	-24.069	14.0228	0.64568	1.0:0.0:0.0:0.0	.	244;244	A6H8Y5;O60934	.;NBN_HUMAN	S	244;162;244;156;162	ENSP00000265433:F244S;ENSP00000386924:F162S;ENSP00000430983:F156S;ENSP00000428717:F162S	ENSP00000265433:F244S	F	-	2	0	0	NBN	91051933	91051933	1.000000	0.71417	0.976000	0.42696	0.657000	0.38888	5.857000	0.69525	2.123000	0.65237	0.533000	0.62120	TTT		0.343	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3		50.307424	5	5	92	92	NM_001024688		21	60.970984	60.970984	93	0.184211	0	0	0	1	0	21	93	0.184211
HHAT	55733	broad.mit.edu	37	1	210536203	210536203	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:210536203A>T	ENST00000367010.1	+	3	326	c.99A>T	c.(97-99)gaA>gaT	p.E33D	HHAT_ENST00000537898.1_Missense_Mutation_p.E33D|HHAT_ENST00000261458.3_Missense_Mutation_p.E33D|HHAT_ENST00000413764.2_Missense_Mutation_p.E33D|HHAT_ENST00000545154.1_Missense_Mutation_p.E34D|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Missense_Mutation_p.E33D|HHAT_ENST00000391905.3_Missense_Mutation_p.E33D|HHAT_ENST00000308852.6_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					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)		CAGAACACGAAGAGGAGCTGG	0.398																																						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.(97-99)gaA>gaT	hedgehog acyltransferase						87.0	85.0	86.0					1																	210536203		2203	4300	6503	SO:0001583	missense	55733			multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210536203A>T	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.99A>T	1.37:g.210536203A>T	ENSP00000355977:p.Glu33Asp		HHAT_ENST00000537898.1_Missense_Mutation_p.E33D|HHAT_ENST00000261458.3_Missense_Mutation_p.E33D|HHAT_ENST00000391905.3_Missense_Mutation_p.E33D|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Missense_Mutation_p.E33D|HHAT_ENST00000413764.2_Missense_Mutation_p.E33D|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.E34D	p.E33D	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)	3	326	+			33		B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.99A>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	a	17.06	3.292996	0.60086	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000261458;ENST00000367010	T;T;T;T;T;T;T	0.50548	2.2;0.74;2.08;2.09;2.19;2.2;2.2	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.049418	0.85682	D	0.000000	T	0.59514	0.2199	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.61697	0.99;0.984;0.984;0.976	D;D;D;P	0.70935	0.971;0.956;0.956;0.683	T	0.56056	-0.8042	10	0.16896	T	0.51	-15.0535	10.3285	0.43807	1.0:0.0:0.0:0.0	.	34;33;33;33	F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	D	33;33;34;33;33;33;33	ENSP00000416845:E33D;ENSP00000444995:E33D;ENSP00000438468:E34D;ENSP00000442625:E33D;ENSP00000375773:E33D;ENSP00000261458:E33D;ENSP00000355977:E33D	ENSP00000261458:E33D	E	+	3	2	2	HHAT	208602826	208602826	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.855000	0.55957	1.933000	0.56026	0.460000	0.39030	GAA		0.398	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1		61.770346	4	4	50	50	NM_018194		24	65.541697	65.541697	62	0.279070	0	0	0	1	0	24	62	0.27907
CNOT6L	246175	ucsc.edu	37	4	78694260	78694260	+	Silent	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr4:78694260G>A	ENST00000504123.1	-	4	505	c.375C>T	c.(373-375)ttC>ttT	p.F125F	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Silent_p.F125F			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	125	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGTAGCTGGAAGAGCCGAC	0.308																																																	0																	45.0	45.0	45.0					4																	78694260		1794	4069	5863	SO:0001819	synonymous_variant	246175							AL133112	AL133112	CCDS68731.1	CCDS68731.1	4q13.3	2014-06-17			2014-06-17				ENSG00000138767		ENSG00000138767				18042	18042	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_144571	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	uc003hks.3	Q96LI5	Q96LI5			ENST00000504123.1:c.375C>T	4.37:g.78694260G>A																		Q9UF92	Silent	SNP	ENST00000504123.1	37			.	.	.	.	.	.	.	.	.	.	G	9.612	1.131520	0.21041	.	.	ENSG00000138767	ENST00000515506	.	.	.	4.78	3.92	0.45320	4.78	3.92	0.45320	.	.	.	.	.	T	0.64170	0.2574	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63422	-0.6641	4	.	.	.	-4.4282	13.2156	0.59859	0.0786:0.0:0.9214:0.0	.	.	.	.	S	154	.	.	P	-	1	0	0	CNOT6L	78913284	78913284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.943000	0.49026	2.190000	0.69967	0.555000	0.69702	CCA		0.308	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			2	2	24	24			4			18							4	18	
E2F2	1870	broad.mit.edu	37	1	23857136	23857136	+	Silent	SNP	C	C	T			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:23857136C>T	ENST00000361729.2	-	1	576	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	50					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GCGCCGTCTGCGGGTACAGCG	0.711																																						ENST00000361729.2											0			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13						c.(148-150)ccG>ccA	E2F transcription factor 2						18.0	24.0	22.0					1																	23857136		2200	4292	6492	SO:0001819	synonymous_variant	1870			G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23857136C>T	L22846	L22846	CCDS236.1	CCDS236.1	1p36	2008-02-05			2008-02-05			ENSG00000007968	ENSG00000007968	ENSG00000007968	ENSG00000007968				3114	3114	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600426	600426						8246995, 8246996	8246995, 8246996	Standard	Standard	NM_004091	NM_004091		Approved	E2F-2	uc001bhe.2	uc001bhe.2	Q14209	Q14209	OTTHUMG00000003223	OTTHUMG00000003223	ENST00000361729.2:c.150G>A	1.37:g.23857136C>T				p.P50P	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	1	576	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	50		B2R9W1|Q7Z6H1	Silent	SNP	ENST00000361729.2	37	c.150G>A	CCDS236.1																																																																																									0.711	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1		4.609941	-4	-4	13	13	NM_004091		3	7.905397	7.905397	21	0.125000	0	0	0	1	0	3	21	0.125
MARCH6	10299	broad.mit.edu	37	5	10426521	10426521	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr5:10426521G>A	ENST00000274140.5	+	24	2525	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	MARCH6_ENST00000510792.1_Missense_Mutation_p.R496Q|MARCH6_ENST00000503788.1_Missense_Mutation_p.R693Q|MARCH6_ENST00000449913.2_Missense_Mutation_p.R750Q	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	798					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AATGGCATCCGGAACATTGAC	0.408																																						ENST00000274140.5											0			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2392-2394)cGg>cAg	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase						394.0	339.0	358.0					5																	10426521		2203	4300	6503	SO:0001583	missense	10299			protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426521G>A	AB011169	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495	ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	30550	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613297	613297	"""membrane-associated ring finger (C3HC4) 6"""		"""membrane-associated ring finger (C3HC4) 6"""			14722266	14722266	Standard	Standard	NM_001270660	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	uc003jet.2	O60337	O60337	OTTHUMG00000162027	OTTHUMG00000162027	ENST00000274140.5:c.2393G>A	5.37:g.10426521G>A	ENSP00000274140:p.Arg798Gln		MARCH6_ENST00000510792.1_Missense_Mutation_p.R496Q|MARCH6_ENST00000503788.1_Missense_Mutation_p.R693Q|MARCH6_ENST00000449913.2_Missense_Mutation_p.R750Q	p.R798Q	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN			24	2525	+			798		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2393G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783881	0.90282	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.44482	1.94;0.93;1.94;0.92	5.63	4.77	0.60923	5.63	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.992;0.984;0.999;0.992	P;B;P;B	0.62649	0.803;0.426;0.905;0.44	T	0.59573	-0.7429	10	0.24483	T	0.36	-27.7943	14.9409	0.70992	0.0686:0.0:0.9314:0.0	.	693;750;378;798	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	Q	750;693;798;496	ENSP00000414643:R750Q;ENSP00000425930:R693Q;ENSP00000274140:R798Q;ENSP00000424512:R496Q	ENSP00000274140:R798Q	R	+	2	0	0	MARCH6	10479521	10479521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.418000	0.97395	1.538000	0.49270	0.655000	0.94253	CGG		0.408	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2		180.157428	1	1	193	193	NM_005885		60	183.395805	183.395805	110	0.352941	0	0	0	1	0	60	110	0.352941
ARHGAP17	55114	broad.mit.edu	37	16	24946929	24946929	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr16:24946929C>G	ENST00000289968.6	-	18	1825	c.1756G>C	c.(1756-1758)Gct>Cct	p.A586P	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A508P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	586	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTGGCACAGCTGCAGATACA	0.517																																						ENST00000289968.6											0			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1756-1758)Gct>Cct	Rho GTPase activating protein 17						84.0	79.0	80.0					16																	24946929		2197	4300	6497	SO:0001583	missense	55114			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24946929C>G	AJ306731	AJ306731	CCDS32408.1, CCDS32409.1	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29			2011-06-29				ENSG00000140750		ENSG00000140750		"""Rho GTPase activating proteins"""	"""Rho GTPase activating proteins"""	18239	18239	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608293	608293						10967100, 11431473	10967100, 11431473	Standard	Standard	XM_005255413	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	uc002dnb.3	Q68EM7	Q68EM7			ENST00000289968.6:c.1756G>C	16.37:g.24946929C>G	ENSP00000289968:p.Ala586Pro		ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A508P|ARHGAP17_ENST00000441763.2_3'UTR	p.A586P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	18	1825	-			586	Pro-rich.	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1756G>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	9.027	0.986398	0.18889	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.21734	1.99;2.01	5.19	-2.71	0.05986	5.19	-2.71	0.05986	.	0.505510	0.16645	N	0.205470	T	0.17874	0.0429	N	0.12746	0.255	0.27690	N	0.94616	D;B;B;B	0.63046	0.992;0.006;0.0;0.001	D;B;B;B	0.73708	0.981;0.003;0.002;0.001	T	0.19451	-1.0305	10	0.25751	T	0.34	.	4.7834	0.13213	0.1104:0.334:0.4447:0.1109	.	508;586;119;419	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	P	586;508;586	ENSP00000289968:A586P;ENSP00000303130:A508P	ENSP00000289968:A586P	A	-	1	0	0	ARHGAP17	24854430	24854430	0.005000	0.15991	0.003000	0.11579	0.016000	0.09150	-0.236000	0.09003	-0.206000	0.10203	-0.176000	0.13171	GCT		0.517	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3		64.495174	-9	-9	51	51	NM_018054		20	64.616073	64.616073	25	0.444444	0	0	0	1	0	20	25	0.444444
DLGAP5	9787	ucsc.edu	37	14	55629724	55629724	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr14:55629724T>C	ENST00000247191.2	-	13	1834	c.1618A>G	c.(1618-1620)Aat>Gat	p.N540D	DLGAP5_ENST00000395425.2_Missense_Mutation_p.N540D	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	540					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGATTCATATTATTATTGACT	0.289																																																	0																	91.0	92.0	91.0					14																	55629724		2203	4293	6496	SO:0001583	missense	9787							D13633	D13633	CCDS9723.1, CCDS53897.1	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787	ENSG00000126787	ENSG00000126787				16864	16864	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""discs, large homolog 7 (Drosophila)"""	DLG7	"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	7584026, 7584028	Standard	Standard	NM_014750	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	uc001xbs.3	Q15398	Q15398	OTTHUMG00000140310	OTTHUMG00000140310	ENST00000247191.2:c.1618A>G	14.37:g.55629724T>C	ENSP00000247191:p.Asn540Asp																	A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37		CCDS9723.1	.	.	.	.	.	.	.	.	.	.	T	1.376	-0.584627	0.03827	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.17054	2.3;2.3	4.83	3.59	0.41128	4.83	3.59	0.41128	.	0.537099	0.17005	N	0.190767	T	0.09335	0.0230	N	0.22421	0.69	0.09310	N	1	B;B	0.19583	0.037;0.007	B;B	0.21151	0.033;0.015	T	0.31558	-0.9939	10	0.13853	T	0.58	.	5.5034	0.16840	0.1647:0.0:0.2815:0.5538	.	540;540	A8MTM6;Q15398	.;DLGP5_HUMAN	D	540	ENSP00000378815:N540D;ENSP00000247191:N540D	ENSP00000247191:N540D	N	-	1	0	0	DLGAP5	54699477	54699477	0.001000	0.12720	0.089000	0.20774	0.348000	0.29142	0.369000	0.20416	1.951000	0.56629	0.477000	0.44152	AAT		0.289	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2			-12	-12	53	53	NM_014750		4			32							4	32	
KCNS2	3788	broad.mit.edu	37	8	99440584	99440584	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr8:99440584G>A	ENST00000287042.4	+	2	727	c.377G>A	c.(376-378)cGc>cAc	p.R126H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R126H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	126					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R126H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACCATGGCCGCAAAGTAGAG	0.552																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4											1	Substitution - Missense(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(376-378)cGc>cAc	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2						85.0	91.0	89.0					8																	99440584		2203	4300	6503	SO:0001583	missense	3788				voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440584G>A	AB032970	AB032970	CCDS6279.1	CCDS6279.1	8q22	2011-07-05			2011-07-05			ENSG00000156486	ENSG00000156486	ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	6301	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602906	602906						9305895, 16382104	9305895, 16382104	Standard	Standard	NM_020697	NM_020697		Approved	Kv9.2	uc003yin.3	uc003yin.3	Q9ULS6	Q9ULS6	OTTHUMG00000044337	OTTHUMG00000044337	ENST00000287042.4:c.377G>A	8.37:g.99440584G>A	ENSP00000287042:p.Arg126His		KCNS2_ENST00000521839.1_Missense_Mutation_p.R126H	p.R126H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	727	+	Breast(36;2.4e-06)		126		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.377G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054137	0.75960	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.46451	0.87;0.87	5.31	5.31	0.75309	5.31	5.31	0.75309	BTB/POZ-like (1);BTB/POZ fold (1);	0.136406	0.47093	D	0.000244	T	0.59445	0.2194	M	0.67397	2.05	0.44798	D	0.997809	D	0.76494	0.999	D	0.73380	0.98	T	0.56408	-0.7984	10	0.33141	T	0.24	.	12.3465	0.55124	0.0775:0.0:0.9225:0.0	.	126	Q9ULS6	KCNS2_HUMAN	H	126	ENSP00000287042:R126H;ENSP00000430712:R126H	ENSP00000287042:R126H	R	+	2	0	0	KCNS2	99509760	99509760	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.470000	0.83445	0.563000	0.77884	CGC		0.552	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1		-17.127778	4	4	57	57	NM_020697		4	7.88764	7.887640	104	0.037037	0	0	0	1	0	4	104	0.037037
ACD	65057	broad.mit.edu	37	16	67692869	67692869	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr16:67692869G>C	ENST00000393919.4	-	7	1129	c.865C>G	c.(865-867)Cct>Gct	p.P289A	PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.P286A|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	289	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGTGACAGGGGGTGCTGTG	0.612																																						ENST00000219251.8											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(856-858)Cct>Gct	adrenocortical dysplasia homolog (mouse)						72.0	71.0	72.0					16																	67692869		2198	4300	6498	SO:0001583	missense	65057			intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67692869G>C	AF070535	AF070535	CCDS10842.1, CCDS42181.1	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			2012-08-23			ENSG00000102977	ENSG00000102977	ENSG00000102977	ENSG00000102977				25070	25070	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377	609377						15231715, 15181449	15231715, 15181449	Standard	Standard	NM_001082486	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	uc002etq.4	Q96AP0	Q96AP0	OTTHUMG00000137547	OTTHUMG00000137547	ENST00000393919.4:c.865C>G	16.37:g.67692869G>C	ENSP00000377496:p.Pro289Ala		ACD_ENST00000393919.4_Missense_Mutation_p.P289A	p.P286A	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	7	1187	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	289	Interaction with POT1.	Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.856C>G	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042842	0.19748	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.35421	1.31;1.31	4.96	-0.708	0.11241	4.96	-0.708	0.11241	.	0.507828	0.19458	N	0.113779	T	0.16896	0.0406	N	0.20986	0.625	0.09310	N	1	B;B	0.13594	0.005;0.008	B;B	0.14578	0.005;0.011	T	0.11446	-1.0587	10	0.27785	T	0.31	-1.3785	1.3808	0.02230	0.1698:0.1432:0.3928:0.2942	.	289;286	Q96AP0;Q96AP0-2	ACD_HUMAN;.	A	286;289	ENSP00000219251:P286A;ENSP00000377496:P289A	ENSP00000219251:P286A	P	-	1	0	0	ACD	66250370	66250370	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.090000	0.15025	-0.390000	0.07774	-0.467000	0.05162	CCT		0.612	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		113.707483	-31	-31	93	93	NM_022914		39	114.073865	114.073865	51	0.433333	0	0	0	1	0	39	51	0.433333
COL25A1	84570	broad.mit.edu	37	4	109822282	109822282	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr4:109822282C>G	ENST00000399132.1	-	14	1357	c.827G>C	c.(826-828)gGa>gCa	p.G276A	COL25A1_ENST00000399127.1_Missense_Mutation_p.G272A|COL25A1_ENST00000399126.1_Missense_Mutation_p.G276A	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTTAGGTCCTGGTATTCC	0.348																																						ENST00000399132.1											0			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(826-828)gGa>gCa	collagen, type XXV, alpha 1						101.0	96.0	98.0					4																	109822282		1857	4106	5963	SO:0001583	missense	84570				collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109822282C>G	AF293340	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			2013-01-16			ENSG00000188517	ENSG00000188517	ENSG00000188517	ENSG00000188517		"""Collagens"""	"""Collagens"""	18603	18603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610004	610004						11927537	11927537	Standard	Standard	NM_001256074	NM_001256074		Approved		uc003hze.2	uc003hze.2	Q9BXS0	Q9BXS0	OTTHUMG00000150039	OTTHUMG00000150039	ENST00000399132.1:c.827G>C	4.37:g.109822282C>G	ENSP00000382083:p.Gly276Ala		COL25A1_ENST00000399127.1_Missense_Mutation_p.G272A|COL25A1_ENST00000399126.1_Missense_Mutation_p.G276A	p.G276A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	14	1357	-		Hepatocellular(203;0.217)	276	Collagen-like 3.		Missense_Mutation	SNP	ENST00000399132.1	37	c.827G>C	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015437	0.54468	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99523	-6.08;-4.57;-6.08	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	M	0.93420	3.415	0.48288	D	0.999626	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.981	D	0.97845	1.0271	9	.	.	.	0.0018	16.5147	0.84296	0.0:1.0:0.0:0.0	.	276;276	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	A	276;278;272;272;276;206	ENSP00000382083:G276A;ENSP00000382078:G272A;ENSP00000382077:G276A	.	G	-	2	0	0	COL25A1	110041731	110041731	0.999000	0.42202	0.959000	0.39883	0.870000	0.49936	4.478000	0.60230	2.685000	0.91497	0.591000	0.81541	GGA		0.348	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2		44.037933	5	5	78	78	NM_032518		14	44.948395	44.948395	27	0.341463	0	0	0	1	0	14	27	0.341463
RSPH4A	345895	broad.mit.edu	37	6	116944015	116944015	+	Silent	SNP	A	A	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr6:116944015A>G	ENST00000229554.5	+	2	908	c.771A>G	c.(769-771)caA>caG	p.Q257Q	RSPH4A_ENST00000368580.4_Silent_p.Q257Q|RSPH4A_ENST00000368581.4_Silent_p.Q257Q	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	257					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATATTAGCCAAGATGTGAAGA	0.323									Kartagener syndrome																													ENST00000229554.5											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(769-771)caA>caG	radial spoke head 4 homolog A (Chlamydomonas)						99.0	107.0	105.0					6																	116944015		2203	4299	6502	SO:0001819	synonymous_variant	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116944015A>G			CCDS34521.1, CCDS55051.1	CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834	ENSG00000111834	ENSG00000111834				21558	21558	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612647	612647	"""radial spokehead-like 3"""	RSHL3	"""radial spokehead-like 3"""	RSHL3		19200523	19200523	Standard	Standard	NM_001010892	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	uc003pxe.2	Q5TD94	Q5TD94	OTTHUMG00000015444	OTTHUMG00000015444	ENST00000229554.5:c.771A>G	6.37:g.116944015A>G			RSPH4A_ENST00000368581.4_Silent_p.Q257Q|RSPH4A_ENST00000368580.4_Silent_p.Q257Q	p.Q257Q	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			2	908	+			257		B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	c.771A>G	CCDS34521.1																																																																																									0.323	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1		183.804411	28	28	203	203	NM_001010892		64	193.502198	193.502198	163	0.281938	0	0	0	1	0	64	163	0.281938
NLRP14	338323	broad.mit.edu	37	11	7059980	7059980	+	Missense_Mutation	SNP	C	C	T	rs146049510	byFrequency	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr11:7059980C>T	ENST00000299481.4	+	2	509	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	55	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.		R -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:16931801}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAAGGCCAGGCGGGAGGACCT	0.448													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		18936	0.0		0.0	False		,,,				2504	0.0					ENST00000299481.4											0			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(163-165)Cgg>Tgg	NLR family, pyrin domain containing 14	C	TRP/ARG	15,4387	23.3+/-48.9	0,15,2186	58.0	63.0	61.0		163	-1.4	0.0	11	dbSNP_134	61	0,8592		0,0,4296	yes	missense	NLRP14	NM_176822.3	101	0,15,6482	TT,TC,CC		0.0,0.3408,0.1154	probably-damaging	55/1094	7059980	15,12979	2201	4296	6497	SO:0001583	missense	338323			cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059980C>T	BK001107	BK001107	CCDS7776.1	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	22939	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	12563287	Standard	Standard	NM_176822	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	uc001mfb.1	Q86W24	Q86W24			ENST00000299481.4:c.163C>T	11.37:g.7059980C>T	ENSP00000299481:p.Arg55Trp			p.R55W	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	509	+			55	DAPIN.	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.163C>T	CCDS7776.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	15.43	2.832721	0.50845	0.003408	0.0	ENSG00000158077	ENST00000299481	T	0.54675	0.56	4.22	-1.36	0.09085	4.22	-1.36	0.09085	Pyrin (2);DEATH-like (2);	0.529188	0.15927	N	0.237859	T	0.48333	0.1494	L	0.60067	1.865	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.43669	-0.9377	10	0.49607	T	0.09	.	0.7116	0.00925	0.3593:0.2971:0.1447:0.1989	.	55	Q86W24	NAL14_HUMAN	W	55	ENSP00000299481:R55W	ENSP00000299481:R55W	R	+	1	2	2	NLRP14	7016556	7016556	0.000000	0.05858	0.000000	0.03702	0.948000	0.59901	-0.628000	0.05515	-0.224000	0.09928	0.655000	0.94253	CGG		0.448	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1		33.989188	20	20	66	66	NM_176822		12	34.637857	34.637857	22	0.352941	0	0	0	1	0	12	22	0.352941
SETD2	29072	broad.mit.edu	37	3	47103828	47103828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr3:47103828G>A	ENST00000409792.3	-	14	6160	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2040					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCCTTCCTCGTTCAGTTGCT	0.388			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6118-6120)Cga>Tga	SET domain containing 2						199.0	202.0	201.0					3																	47103828		2203	4300	6503	SO:0001587	stop_gained	29072			regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103828G>A	AJ238403	AJ238403	CCDS2749.2	CCDS2749.2	3p21.31	2014-09-17			2014-09-17			ENSG00000181555	ENSG00000181555	ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	18420	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612778	612778						16118227, 11461154	16118227, 11461154	Standard	Standard	NM_014159	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	uc003cqs.3	Q9BYW2	Q9BYW2	OTTHUMG00000133514	OTTHUMG00000133514	ENST00000409792.3:c.6118C>T	3.37:g.47103828G>A	ENSP00000386759:p.Arg2040*		SETD2_ENST00000492397.1_5'UTR	p.R2040*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6160	-		Acute lymphoblastic leukemia(5;0.0169)	2040		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.6118C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	44	10.715565	0.99455	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.77	3.83	0.44106	4.77	3.83	0.44106	.	0.000000	0.42420	D	0.000710	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0351	0.71738	0.0:0.0:0.8576:0.1424	.	.	.	.	X	2040	.	ENSP00000386759:R2040X	R	-	1	2	2	SETD2	47078832	47078832	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.345000	0.59360	2.639000	0.89480	0.455000	0.32223	CGA		0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		244.248357	-10	-10	192	192	NM_014159		81	244.683017	244.683017	100	0.447514	0	0	0	1	0	81	100	0.447514
RHPN2	85415	broad.mit.edu	37	19	33517480	33517480	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:33517480A>T	ENST00000254260.3	-	3	279	c.244T>A	c.(244-246)Tca>Aca	p.S82T	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	82					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGCAGGTCTGAGTTGACGAAG	0.552																																						ENST00000254260.3											0			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(244-246)Tca>Aca	rhophilin, Rho GTPase binding protein 2						104.0	99.0	100.0					19																	33517480		2203	4297	6500	SO:0001583	missense	85415			signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33517480A>T	AF268032	AF268032	CCDS12427.1	CCDS12427.1	19q13.12	2008-02-05			2008-02-05				ENSG00000131941		ENSG00000131941				19974	19974	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12221077	12221077	Standard	Standard	NM_033103	NM_033103		Approved		uc002nuf.3	uc002nuf.3	Q8IUC4	Q8IUC4			ENST00000254260.3:c.244T>A	19.37:g.33517480A>T	ENSP00000254260:p.Ser82Thr		RHPN2_ENST00000400226.4_5'UTR	p.S82T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			3	279	-	Esophageal squamous(110;0.137)		82		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.244T>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785321	0.70337	.	.	ENSG00000131941	ENST00000254260	T	0.17691	2.26	3.88	3.88	0.44766	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.79475	2.455	0.80722	D	1	P	0.42620	0.785	P	0.45037	0.467	T	0.17077	-1.0381	10	0.87932	D	0	2.0166	12.8517	0.57860	1.0:0.0:0.0:0.0	.	82	Q8IUC4	RHPN2_HUMAN	T	82	ENSP00000254260:S82T	ENSP00000254260:S82T	S	-	1	0	0	RHPN2	38209320	38209320	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.842000	0.75379	1.761000	0.52028	0.455000	0.32223	TCA		0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2		225.999445	-61	-61	173	173	NM_033103		76	226.706256	226.706256	100	0.431818	0	0	0	1	0	76	100	0.431818
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	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>cTa	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>A			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>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	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>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	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	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	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		163.259000	-7	-7	105	105	NM_002072		50	163.554906	163.554906	39	0.561798	0	0	0	1	0	50	39	0.561798
VWF	7450	broad.mit.edu	37	12	6128239	6128239	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr12:6128239G>C	ENST00000261405.5	-	28	4599	c.4345C>G	c.(4345-4347)Caa>Gaa	p.Q1449E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1449	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGTCCCTTTGCTGCTCCAGC	0.612																																						ENST00000261405.5											0			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4345-4347)Caa>Gaa	von Willebrand factor						68.0	71.0	70.0					12																	6128239		2203	4300	6503	SO:0001583	missense	7450			blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128239G>C			CCDS8539.1	CCDS8539.1	12p13.3	2014-09-17			2014-09-17			ENSG00000110799	ENSG00000110799	ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	"""Endogenous ligands"""	12726	12726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613160	613160		F8VWF		F8VWF		2251280	2251280	Standard	Standard	NM_000552	NM_000552		Approved		uc001qnn.1	uc001qnn.1	P04275	P04275	OTTHUMG00000168265	OTTHUMG00000168265	ENST00000261405.5:c.4345C>G	12.37:g.6128239G>C	ENSP00000261405:p.Gln1449Glu			p.Q1449E	NM_000552.3	NP_000543	P04275	VWF_HUMAN			28	4599	-			1449	VWFA 1; binding site for platelet glycoprotein Ib.	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4345C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	3.253	-0.152788	0.06585	.	.	ENSG00000110799	ENST00000261405	D	0.83163	-1.69	4.35	-1.2	0.09554	4.35	-1.2	0.09554	von Willebrand factor, type A (3);	0.616955	0.13134	N	0.411235	T	0.73426	0.3585	L	0.43152	1.355	0.22446	N	0.999094	B	0.18166	0.026	B	0.20955	0.032	T	0.60777	-0.7196	10	0.38643	T	0.18	.	8.3008	0.32012	0.0867:0.0:0.4033:0.51	.	1449	P04275	VWF_HUMAN	E	1449	ENSP00000261405:Q1449E	ENSP00000261405:Q1449E	Q	-	1	0	0	VWF	5998500	5998500	0.027000	0.19231	0.616000	0.29078	0.132000	0.20833	0.643000	0.24750	0.010000	0.14839	-0.378000	0.06908	CAA		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		69.240949	-20	-20	54	54	NM_000552		22	69.574499	69.574499	31	0.415094	0	0	0	1	0	22	31	0.415094
OR3A1	4994	broad.mit.edu	37	17	3195504	3195504	+	Nonsense_Mutation	SNP	G	G	A	rs188930692		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr17:3195504G>A	ENST00000323404.1	-	1	372	c.373C>T	c.(373-375)Cga>Tga	p.R125*	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	125			R -> Q (in dbSNP:rs703903). {ECO:0000269|PubMed:10673334, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8004088, ECO:0000269|PubMed:8647456}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCCAGGAATCGGTCATAGGCC	0.592													.|||	1	0.000199681	0.0	0.0	5008	,	,		20502	0.001		0.0	False		,,,				2504	0.0				GBM(20;287 516 18743 28660 36594)	ENST00000323404.1											0			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(373-375)Cga>Tga	olfactory receptor, family 3, subfamily A, member 1						94.0	86.0	89.0					17																	3195504		2203	4300	6503	SO:0001587	stop_gained	4994			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195504G>A	X80391	X80391	CCDS11023.1	CCDS11023.1	17p13.3	2012-08-09			2012-08-09			ENSG00000180090	ENSG00000180090	ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	8282	8282	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										8921386, 8647456	8921386, 8647456	Standard	Standard	NM_002550	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	uc002fvh.1	P47881	P47881	OTTHUMG00000090642	OTTHUMG00000090642	ENST00000323404.1:c.373C>T	17.37:g.3195504G>A	ENSP00000313803:p.Arg125*		RP11-64J4.2_ENST00000573491.1_RNA	p.R125*	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	372	-			125		Q4VB06|Q6IFM4	Nonsense_Mutation	SNP	ENST00000323404.1	37	c.373C>T	CCDS11023.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	29.8	5.040067	0.93630	.	.	ENSG00000180090	ENST00000323404	.	.	.	5.31	4.33	0.51752	5.31	4.33	0.51752	.	0.000000	0.42964	D	0.000626	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5448	14.167	0.65483	0.0:0.0:0.849:0.1509	.	.	.	.	X	125	.	ENSP00000313803:R125X	R	-	1	2	2	OR3A1	3142254	3142254	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.771000	0.38542	1.445000	0.47624	-0.188000	0.12872	CGA		0.592	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2		-7.126452	18	18	91	91			3	6.31828	6.318280	59	0.048387	0	0	0	1	0	3	59	0.048387
ST6GALNAC5	81849	broad.mit.edu	37	1	77334298	77334298	+	Silent	SNP	G	G	A	rs554217920	byFrequency	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													G|||	2	0.000399361	0.0	0.0	5008	,	,		11676	0.002		0.0	False		,,,				2504	0.0					ENST00000477717.1											0			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(130-132)caG>caA	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5						12.0	12.0	12.0					1																	77334298		2054	3972	6026	SO:0001819	synonymous_variant	81849			protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334298G>A			CCDS673.1	CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	"""Sialyltransferases"""	19342	19342	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610134	610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	10521438, 10601645	Standard	Standard	NM_030965	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	uc001dhi.3	Q9BVH7	Q9BVH7	OTTHUMG00000009687	OTTHUMG00000009687	ENST00000477717.1:c.132G>A	1.37:g.77334298G>A			ST6GALNAC5_ENST00000496845.1_3'UTR	p.Q44Q	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	367	+			44	Poly-Gln.	B1AK82	Silent	SNP	ENST00000477717.1	37	c.132G>A	CCDS673.1																																																																																									0.711	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2		0.863100	-2	-2	35	35	NM_030965		4	8.809454	8.809454	42	0.086957	0	0	0	1	0	4	42	0.086957
MAPKAPK2	9261	broad.mit.edu	37	1	206904072	206904072	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:206904072G>A	ENST00000367103.3	+	6	924	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.C244Y	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GACAAGTCCTGTGACATGTGG	0.577																																						ENST00000367103.3											0			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(730-732)tGt>tAt	mitogen-activated protein kinase-activated protein kinase 2						149.0	135.0	139.0					1																	206904072		2203	4300	6503	SO:0001583	missense	9261			activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206904072G>A	U12779	U12779	CCDS1466.1, CCDS31001.1	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			2008-02-05			ENSG00000162889	ENSG00000162889	ENSG00000162889	ENSG00000162889				6887	6887	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602006	602006						8179591, 8280084	8179591, 8280084	Standard	Standard	NM_004759	NM_004759		Approved		uc001hem.2	uc001hem.2	P49137	P49137	OTTHUMG00000036342	OTTHUMG00000036342	ENST00000367103.3:c.731G>A	1.37:g.206904072G>A	ENSP00000356070:p.Cys244Tyr		MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.C244Y	p.C244Y	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		6	924	+	Breast(84;0.183)		244	Protein kinase.	Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	c.731G>A	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273199	0.80580	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.49720	0.77;0.77	5.83	3.94	0.45596	5.83	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72220	0.3433	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75827	-0.3180	9	0.87932	D	0	-14.1069	10.1253	0.42646	0.0715:0.0:0.7919:0.1367	.	244;244	P49137;P49137-2	MAPK2_HUMAN;.	Y	244	ENSP00000294981:C244Y;ENSP00000356070:C244Y	ENSP00000294981:C244Y	C	+	2	0	0	MAPKAPK2	204970695	204970695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	0.795000	0.33922	0.655000	0.94253	TGT		0.577	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1		207.143265	-28	-28	81	81	NM_004759		66	208.100673	208.100673	44	0.600000	0	0	0	1	0	66	44	0.6
MYBPC2	4606	broad.mit.edu	37	19	50939080	50939080	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:50939080G>C	ENST00000357701.5	+	3	208	c.157G>C	c.(157-159)Gtt>Ctt	p.V53L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	53	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.V53I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCACCGGCGTTTTCCTGAA	0.662																																						ENST00000357701.5											1	Substitution - Missense(1)	large_intestine(1)	breast(1)	1						c.(157-159)Gtt>Ctt	myosin binding protein C, fast type						21.0	23.0	22.0					19																	50939080		1881	4102	5983	SO:0001583	missense	4606			cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939080G>C			CCDS46152.1	CCDS46152.1	19q13.33	2013-02-11	2001-11-28		2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967	ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	7550	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	"""fast-type muscle myosin-binding-protein C"""	160793	160793	"""myosin-binding protein C, fast-type"""		"""myosin-binding protein C, fast-type"""			8375400	8375400	Standard	Standard	NM_004533	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	uc002psf.2	Q14324	Q14324			ENST00000357701.5:c.157G>C	19.37:g.50939080G>C	ENSP00000350332:p.Val53Leu			p.V53L	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	3	208	+		all_neural(266;0.057)	53	Ig-like C2-type 1.	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.157G>C	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.065034	0.00382	.	.	ENSG00000086967	ENST00000357701	T	0.68624	-0.34	4.6	-9.19	0.00685	4.6	-9.19	0.00685	Immunoglobulin-like fold (1);	.	.	.	.	T	0.21062	0.0507	N	0.00419	-1.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34800	-0.9814	9	0.02654	T	1	.	8.5286	0.33319	0.1909:0.4591:0.35:0.0	.	53	Q14324	MYPC2_HUMAN	L	53	ENSP00000350332:V53L	ENSP00000350332:V53L	V	+	1	0	0	MYBPC2	55630892	55630892	0.000000	0.05858	0.003000	0.11579	0.064000	0.16182	-2.122000	0.01321	-1.955000	0.01023	-0.483000	0.04790	GTT		0.662	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		25.701770	0	0	19	19	NM_004533		8	25.764061	25.764061	6	0.571429	0	0	0	1	0	8	6	0.571429
TTN	7273	broad.mit.edu	37	2	179413443	179413443	+	Silent	SNP	A	A	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr2:179413443A>C	ENST00000591111.1	-	289	88211	c.87987T>G	c.(87985-87987)gcT>gcG	p.A29329A	TTN_ENST00000359218.5_Silent_p.A22030A|TTN_ENST00000460472.2_Silent_p.A21905A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.A22097A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A28402A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A30970A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29329	Ig-like 134.				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)			TATGGATATCAGCCCGAAGGC	0.473																																						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.(92908-92910)gcT>gcG	titin						126.0	121.0	123.0					2																	179413443		1963	4147	6110	SO:0001819	synonymous_variant	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413443A>C	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.87987T>G	2.37:g.179413443A>C			TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.A22097A|TTN_ENST00000591111.1_Silent_p.A29329A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A28402A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A22030A|TTN_ENST00000460472.2_Silent_p.A21905A|TTN-AS1_ENST00000592600.1_RNA	p.A30970A	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)		339	93134	-			29329	Fibronectin type-III 126.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.92910T>G																																																																																										0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		-9.066645	-9	-9	88	88	NM_133378		4	7.014795	7.014795	72	0.052632	0	0	0	1	0	4	72	0.052632
EIF1B	10289	broad.mit.edu	37	3	40352412	40352412	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr3:40352412C>G	ENST00000232905.3	+	2	318	c.60C>G	c.(58-60)gaC>gaG	p.D20E	ENTPD3-AS1_ENST00000439293.1_RNA	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	20					regulation of translational initiation (GO:0006446)		poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTAAGGGTGACGACTTACTCC	0.388																																						ENST00000232905.3											0			central_nervous_system(1)|lung(3)	4						c.(58-60)gaC>gaG	eukaryotic translation initiation factor 1B						49.0	49.0	49.0					3																	40352412		2203	4300	6503	SO:0001583	missense	10289			regulation of translational initiation		protein binding|translation initiation factor activity	g.chr3:40352412C>G	BC006996	BC006996	CCDS2690.1	CCDS2690.1	3p22.1	2006-02-03			2006-02-03			ENSG00000114784	ENSG00000114784	ENSG00000114784	ENSG00000114784				30792	30792	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										7904817	7904817	Standard	Standard	NM_005875	NM_005875		Approved	GC20	uc003ckc.3	uc003ckc.3	O60739	O60739	OTTHUMG00000131388	OTTHUMG00000131388	ENST00000232905.3:c.60C>G	3.37:g.40352412C>G	ENSP00000232905:p.Asp20Glu			p.D20E	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	2	318	+			20		Q9UQF8	Missense_Mutation	SNP	ENST00000232905.3	37	c.60C>G	CCDS2690.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877734	0.51801	.	.	ENSG00000114784	ENST00000232905	T	0.28454	1.61	6.17	3.42	0.39159	6.17	3.42	0.39159	Translation initiation factor SUI1 (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.67569	2.06	0.49389	D	0.999785	B	0.15141	0.012	B	0.19666	0.026	T	0.06463	-1.0825	10	0.41790	T	0.15	.	8.1084	0.30900	0.0:0.7243:0.1315:0.1442	.	20	O60739	EIF1B_HUMAN	E	20	ENSP00000232905:D20E	ENSP00000232905:D20E	D	+	3	2	2	EIF1B	40327416	40327416	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.724000	0.54962	0.478000	0.27488	-0.140000	0.14226	GAC		0.388	EIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254177.1		56.805868	6	6	72	72	NM_005875		19	58.208172	58.208172	38	0.333333	0	0	0	1	0	19	38	0.333333
MAP1S	55201	broad.mit.edu	37	19	17835950	17835951	+	Frame_Shift_Del	DEL	AG	AG	-	rs138091544		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:17835950_17835951delAG	ENST00000324096.4	+	4	547_548	c.396_397delAG	c.(394-399)acagggfs	p.G134fs	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Frame_Shift_Del_p.G108fs	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	134	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.G133W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCTACAGACAGGGGGCTTCTC	0.619																																						ENST00000324096.4											1	Substitution - Missense(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(394-399)acagggfs	microtubule-associated protein 1S																																			SO:0001589	frameshift_variant	55201			apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17835950_17835951delAG	BC067115	BC067115	CCDS32954.1	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479		ENSG00000130479				15715	15715	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607573	607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	11827465, 15528209, 16297881, 14627543	Standard	Standard	NM_018174	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	uc002nhe.1	Q66K74	Q66K74			ENST00000324096.4:c.396_397delAG	19.37:g.17835950_17835951delAG	ENSP00000325313:p.Gly134fs		MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Frame_Shift_Del_p.G108fs	p.G134fs	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			4	547_548	+			134	Necessary for the microtubule-organizing center localization.	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Frame_Shift_Del	DEL	ENST00000324096.4	37	c.396_397delAG	CCDS32954.1																																																																																									0.619	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	.	.	-2	-2	99	99	NM_018174		21			92	0.19						21	92	0.19
HSPG2	3339	broad.mit.edu	37	1	22182161	22182161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:22182161delG	ENST00000374695.3	-	46	5788	c.5709delC	c.(5707-5709)cccfs	p.P1903fs	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1903	Ig-like C2-type 4.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGGCCGCCGGGGCCCCCTG	0.667																																						ENST00000374695.3											0			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(5707-5709)cccfs	heparan sulfate proteoglycan 2						12.0	13.0	13.0					1																	22182161		2195	4287	6482	SO:0001589	frameshift_variant	3339			angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22182161delG	M85289	M85289	CCDS30625.1	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	5273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	"""perlecan proteoglycan"""	142461	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	1685141, 11941538	Standard	Standard	XM_005245863	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	uc001bfj.3	P98160	P98160	OTTHUMG00000002674	OTTHUMG00000002674	ENST00000374695.3:c.5709delC	1.37:g.22182161delG	ENSP00000363827:p.Pro1903fs			p.P1903fs	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	46	5788	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1903	Ig-like C2-type 4.	Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	ENST00000374695.3	37	c.5709delC	CCDS30625.1																																																																																									0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	.	.	0	0	12	12	NM_005529		2			4	0.33						2	4	0.33
SRSF2	6427	broad.mit.edu	37	17	74732946	74732969	+	In_Frame_Del	DEL	GTGTGAGTCCGGGGGGCGGCCGTA	GTGTGAGTCCGGGGGGCGGCCGTA	-			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr17:74732946_74732969delGTGTGAGTCCGGGGGGCGGCCGTA	ENST00000392485.2	-	1	446_469	c.274_297delTACGGCCGCCCCCCGGACTCACAC	c.(274-297)tacggccgccccccggactcacacdel	p.YGRPPDSH92del	MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSH92del|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSH92del|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000591864.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.P95H(75)|p.P95L(48)|p.P95R(29)|p.P95_R102del(21)|p.?(6)|p.P95?(4)|p.P95_D97del(2)|p.P95A(1)|p.G93>DR(1)|p.P95T(1)|p.R94_P95insR(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCGCCATT	0.732			Mis		"""MDS, CLL"""																																	ENST00000392485.2		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	189	Substitution - Missense(158)|Deletion - In frame(23)|Unknown(6)|Complex - insertion inframe(1)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(189)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(274-297)tacggccgccccccggactcacacdel	serine/arginine-rich splicing factor 2																																			SO:0001651	inframe_deletion	6427			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732946_74732969delGTGTGAGTCCGGGGGGCGGCCGTA	M90104	M90104	CCDS11749.1	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	10783	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	"""SR splicing factor 2"""	600813	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	8530103, 20516191	Standard	Standard	NM_003016	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	uc002jsv.3	Q01130	Q01130			ENST00000392485.2:c.274_297delTACGGCCGCCCCCCGGACTCACAC	17.37:g.74732946_74732969delGTGTGAGTCCGGGGGGCGGCCGTA	ENSP00000376276:p.Tyr92_His99del		MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSH92del|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSH92del|RP11-318A15.7_ENST00000587459.1_Intron	p.YGRPPDSH92del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			1	446_469	-			92	RRM.	B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.274_297delTACGGCCGCCCCCCGGACTCACAC	CCDS11749.1																																																																																									0.732	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	.	.	-5	-5	29	29	NM_003016		10			27	0.27						10	27	0.27
