#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GPR15	2838	broad.mit.edu	37	3	98251295	98251295	+	Missense_Mutation	SNP	G	G	A	rs202120393		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:98251295G>A	ENST00000284311.3	+	1	553	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	140					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GTGGCCAGTCGTATCCAGGAA	0.522																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(418-420)Gta>Ata		G protein-coupled receptor 15							80.0	66.0	71.0					3																	98251295		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251295G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.418G>A	3.37:g.98251295G>A	ENSP00000284311:p.Val140Ile						p.V140I	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	553	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	140					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.418G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	2.976	-0.211319	0.06140	.	.	ENSG00000154165	ENST00000284311	T	0.36878	1.23	4.83	-2.46	0.06461	GPCR, rhodopsin-like superfamily (1);	1.635800	0.03796	N	0.263582	T	0.15262	0.0368	N	0.05078	-0.115	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.08597	-1.0714	10	0.21540	T	0.41	2.8908	1.992	0.03448	0.4205:0.1212:0.3281:0.1303	.	140	P49685	GPR15_HUMAN	I	140	ENSP00000284311:V140I	ENSP00000284311:V140I	V	+	1	0	GPR15	99733985	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-1.149000	0.03182	-0.636000	0.05524	0.591000	0.81541	GTA		0.522	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			8	62	0	0	0	1	0	8	62				
CEP63	80254	broad.mit.edu	37	3	134277174	134277174	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:134277174A>T	ENST00000337090.3	+	13	1831	c.1658A>T	c.(1657-1659)aAg>aTg	p.K553M	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K553M|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K553M			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	553					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTGAGTTCAAGAATACAGAG	0.289																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1657-1659)aAg>aTg		centrosomal protein 63kDa							43.0	44.0	44.0					3																	134277174		2202	4299	6501	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134277174A>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1658A>T	3.37:g.134277174A>T	ENSP00000336524:p.Lys553Met					CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K553M|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K553M|CEP63_ENST00000354446.3_Intron	p.K553M			Q96MT8	CEP63_HUMAN			13	1831	+			553					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1658A>T	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.27|16.27	3.075842|3.075842	0.55646|0.55646	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000337090;ENST00000513612|ENST00000504929	T;T|.	0.21543|.	2.0;2.0|.	4.76|4.76	3.6|3.6	0.41247|0.41247	.|.	0.489229|.	0.21946|.	N|.	0.066813|.	T|.	0.54398|.	0.1856|.	L|L	0.57536|0.57536	1.79|1.79	0.32759|0.32759	N|N	0.505415|0.505415	D|.	0.69078|.	0.997|.	D|.	0.63192|.	0.912|.	T|.	0.62077|.	-0.6930|.	10|.	0.48119|.	T|.	0.1|.	-16.0171|-16.0171	8.3171|8.3171	0.32106|0.32106	0.9076:0.0:0.0924:0.0|0.9076:0.0:0.0924:0.0	.|.	553|.	Q96MT8|.	CEP63_HUMAN|.	M|X	553|242	ENSP00000336524:K553M;ENSP00000426129:K553M|.	ENSP00000336524:K553M|.	K|R	+|+	2|1	0|2	CEP63|CEP63	135759864|135759864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	2.455000|2.455000	0.44988|0.44988	0.965000|0.965000	0.38133|0.38133	0.383000|0.383000	0.25322|0.25322	AAG|AGA		0.289	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		9	36	0	0	0	1	0	9	36				
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		6	5	0	0	0	1	0	6	5				
TSSK1B	83942	broad.mit.edu	37	5	112770050	112770050	+	Missense_Mutation	SNP	G	G	A	rs139028259		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:112770050G>A	ENST00000390666.3	-	1	678	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGTCATCCCGCAGGCAGCGC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20963	0.0		0.001	False		,,,				2504	0.0					ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(487-489)Cgg>Tgg		testis-specific serine kinase 1B		G	,TRP/ARG	0,4404		0,0,2202	79.0	75.0	76.0		,487	0.2	0.9	5	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,163/368	112770050	1,13003	2202	4300	6502	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770050G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.487C>T	5.37:g.112770050G>A	ENSP00000375081:p.Arg163Trp					CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	p.R163W	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	678	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	163			Protein kinase.		B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.487C>T	CCDS4112.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.254	0.603871	0.14002	0.0	1.16E-4	ENSG00000212122	ENST00000390666	T	0.25414	1.8	1.24	0.19	0.15125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32055	U	0.006643	T	0.34193	0.0889	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.14839	-1.0458	10	0.44086	T	0.13	.	6.1779	0.20455	0.0:0.0:0.7032:0.2967	.	163	Q9BXA7	TSSK1_HUMAN	W	163	ENSP00000375081:R163W	ENSP00000375081:R163W	R	-	1	2	TSSK1B	112797949	0.000000	0.05858	0.903000	0.35520	0.224000	0.24922	0.233000	0.17911	-0.435000	0.07264	-0.823000	0.03104	CGG		0.577	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		4	65	0	0	0	1	0	4	65				
SEMA6A	57556	broad.mit.edu	37	5	115813739	115813739	+	Silent	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:115813739G>A	ENST00000343348.6	-	14	2326	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.G513G|SEMA6A_ENST00000282394.6_Silent_p.G45G|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G513G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	513					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTTCACACCGGCCAAGGGGAA	0.463																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1537-1539)ggC>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							157.0	149.0	151.0					5																	115813739		1993	4187	6180	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115813739G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1539C>T	5.37:g.115813739G>A						CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.G45G|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G513G|SEMA6A_ENST00000510263.1_Silent_p.G513G	p.G513G	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	14	2326	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	513					Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.1539C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135135	0.21123	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.98	4.18	0.49190	.	.	.	.	.	T	0.53867	0.1823	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49753	-0.8906	4	.	.	.	.	4.7478	0.13045	0.0708:0.1203:0.4466:0.3622	.	.	.	.	V	83	.	.	A	-	2	0	SEMA6A	115841638	0.975000	0.34042	0.999000	0.59377	0.933000	0.57130	0.161000	0.16481	0.834000	0.34852	0.650000	0.86243	GCC		0.463	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		4	158	0	0	0	1	0	4	158				
HADHA	3030	broad.mit.edu	37	2	26426943	26426943	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:26426943T>A	ENST00000380649.3	-	12	1337	c.1208A>T	c.(1207-1209)cAa>cTa	p.Q403L		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	403					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGAACACTTGTTGCTGTCC	0.483																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(1207-1209)cAa>cTa		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						350.0	328.0	336.0					2																	26426943		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26426943T>A	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1208A>T	2.37:g.26426943T>A	ENSP00000370023:p.Gln403Leu						p.Q403L	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			12	1337	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		403					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.1208A>T	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328462	0.81690	.	.	ENSG00000084754	ENST00000380649	T	0.76578	-1.03	4.86	4.86	0.63082	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	L	0.49256	1.55	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.58620	0.842;0.842	T	0.79405	-0.1817	10	0.30078	T	0.28	-18.266	13.5831	0.61915	0.0:0.0:0.0:1.0	.	403;403	E9KL44;P40939	.;ECHA_HUMAN	L	403	ENSP00000370023:Q403L	ENSP00000370023:Q403L	Q	-	2	0	HADHA	26280447	1.000000	0.71417	0.971000	0.41717	0.923000	0.55619	8.005000	0.88553	1.940000	0.56252	0.459000	0.35465	CAA		0.483	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		159	313	0	0	0	1	0	159	313				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	48	0	0	0	1	0	3	48				
MMP10	4319	broad.mit.edu	37	11	102649942	102649942	+	Splice_Site	SNP	A	A	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:102649942A>G	ENST00000279441.4	-	3	533		c.e3+1			NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TTATTTGATTACCTTTAACTG	0.373																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.e3+1		matrix metallopeptidase 10 (stromelysin 2)							126.0	130.0	128.0					11																	102649942		2203	4299	6502	SO:0001630	splice_region_variant	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102649942A>G	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.496+1T>C	11.37:g.102649942A>G								NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	3	533	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X9|Q53HH9	Splice_Site	SNP	ENST00000279441.4	37		CCDS8321.1	.	.	.	.	.	.	.	.	.	.	A	6.078	0.382668	0.11524	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	.	.	.	4.38	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2925	0.49258	0.8468:0.1532:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP10	102155152	1.000000	0.71417	0.530000	0.27963	0.008000	0.06430	6.792000	0.75125	0.800000	0.34041	-0.438000	0.05819	.		0.373	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		Intron	5	109	0	0	0	1	0	5	109				
GRAMD1A	57655	broad.mit.edu	37	19	35504508	35504508	+	Silent	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:35504508C>T	ENST00000317991.5	+	9	975	c.783C>T	c.(781-783)gaC>gaT	p.D261D	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Silent_p.D254D|GRAMD1A_ENST00000504615.2_Silent_p.D27D|GRAMD1A_ENST00000599564.1_Silent_p.D348D	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	261						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCAGCTGACCGCAGCCAGG	0.662																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1042-1044)gaC>gaT		GRAM domain containing 1A							24.0	29.0	27.0					19																	35504508		2113	4218	6331	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35504508C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.783C>T	19.37:g.35504508C>T						GRAMD1A_ENST00000411896.2_Silent_p.D254D|GRAMD1A_ENST00000317991.5_Silent_p.D261D|GRAMD1A_ENST00000504615.2_Silent_p.D27D	p.D348D			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	1115	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		261					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1044C>T	CCDS42546.1																																																																																				0.662	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		26	24	0	0	0	1	0	26	24				
PCDHAC1	56135	broad.mit.edu	37	5	140306487	140306487	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:140306487T>C	ENST00000253807.2	+	1	10	c.10T>C	c.(10-12)Tgt>Cgt	p.C4R	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C4R|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	4					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTGGGCTGTGGGGTGGC	0.647																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(10-12)Tgt>Cgt									128.0	152.0	144.0					5																	140306487		2203	4300	6503	SO:0001583	missense	0							g.chr5:140306487T>C	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.10T>C	5.37:g.140306487T>C	ENSP00000253807:p.Cys4Arg					PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C4R|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.C4R	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	10	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.10T>C	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393946	0.25205	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.51325	0.73;0.71	5.51	4.33	0.51752	.	.	.	.	.	T	0.29093	0.0723	N	0.12182	0.205	0.38391	D	0.945395	B;B	0.20164	0.042;0.001	B;B	0.22601	0.04;0.0	T	0.08932	-1.0698	9	0.22109	T	0.4	.	11.4535	0.50167	0.0:0.0:0.1506:0.8494	.	4;4	Q9H158;Q9H158-2	PCDC1_HUMAN;.	R	4	ENSP00000386356:C4R;ENSP00000253807:C4R	ENSP00000253807:C4R	C	+	1	0	PCDHAC1	140286671	0.994000	0.37717	0.995000	0.50966	0.218000	0.24690	1.671000	0.37513	0.897000	0.36392	0.459000	0.35465	TGT		0.647	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		12	59	0	0	0	1	0	12	59				
USP8	9101	broad.mit.edu	37	15	50769066	50769066	+	Silent	SNP	G	G	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr15:50769066G>C	ENST00000396444.3	+	9	1208	c.870G>C	c.(868-870)ctG>ctC	p.L290L	USP8_ENST00000433963.1_Silent_p.L290L|USP8_ENST00000425032.3_Silent_p.L213L|USP8_ENST00000307179.4_Silent_p.L290L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	290	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAACTGTCCTGCGCAATGAGC	0.393																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(868-870)ctG>ctC		ubiquitin specific peptidase 8							107.0	102.0	104.0					15																	50769066		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50769066G>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.870G>C	15.37:g.50769066G>C						USP8_ENST00000396444.3_Silent_p.L290L|USP8_ENST00000425032.3_Silent_p.L213L|USP8_ENST00000307179.4_Silent_p.L290L	p.L290L	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	10	1370	+			290			Rhodanese.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.870G>C	CCDS10137.1																																																																																				0.393	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		29	67	0	0	0	1	0	29	67				
PLK1	5347	broad.mit.edu	37	16	23695207	23695207	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:23695207C>G	ENST00000300093.4	+	5	944	c.833C>G	c.(832-834)gCc>gGc	p.A278G		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AACCCCGTGGCCGCCTCCCTC	0.557																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(832-834)gCc>gGc		polo-like kinase 1							202.0	213.0	209.0					16																	23695207		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23695207C>G		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.833C>G	16.37:g.23695207C>G	ENSP00000300093:p.Ala278Gly						p.A278G	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	944	+			278			Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.833C>G	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829805	0.91036	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.67698	-0.28	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80597	0.4653	M	0.66378	2.025	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.82250	-0.0550	10	0.87932	D	0	-16.4203	16.8404	0.85967	0.0:1.0:0.0:0.0	.	278	P53350	PLK1_HUMAN	G	278;181	ENSP00000300093:A278G	ENSP00000300093:A278G	A	+	2	0	PLK1	23602708	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	7.135000	0.77276	2.637000	0.89404	0.655000	0.94253	GCC		0.557	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		53	494	0	0	0	1	0	53	494				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	13	0	0	0	1	0	3	13				
A2ML1	144568	broad.mit.edu	37	12	8976368	8976368	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:8976368G>A	ENST00000299698.7	+	3	479	c.299G>A	c.(298-300)gGa>gAa	p.G100E	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGGGTGTCGGGAGTTGGAAAT	0.527																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(298-300)gGa>gAa		alpha-2-macroglobulin-like 1							103.0	104.0	104.0					12																	8976368		1883	4092	5975	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8976368G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.299G>A	12.37:g.8976368G>A	ENSP00000299698:p.Gly100Glu					A2ML1-AS1_ENST00000537288.1_RNA	p.G100E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			3	479	+			0						Missense_Mutation	SNP	ENST00000299698.7	37	c.299G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904292	0.17760	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.34667	1.35	3.99	2.03	0.26663	.	0.354583	0.20631	N	0.088585	T	0.25791	0.0628	N	0.24115	0.695	0.18873	N	0.999988	P	0.37370	0.592	B	0.39562	0.303	T	0.13845	-1.0494	10	0.72032	D	0.01	.	10.0485	0.42201	0.0:0.4019:0.5981:0.0	.	100	A8K2U0	A2ML1_HUMAN	E	100	ENSP00000299698:G100E	ENSP00000299698:G100E	G	+	2	0	A2ML1	8867635	0.001000	0.12720	0.003000	0.11579	0.352000	0.29268	0.085000	0.14912	0.574000	0.29417	0.655000	0.94253	GGA		0.527	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		75	121	0	0	0	1	0	75	121				
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736																																						ENST00000264771.4																			1	Substitution - Missense(1)	p.H484P(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1450-1452)cAc>cCc		transmembrane protein 175							7.0	10.0	9.0					4																	952220		2108	4121	6229	SO:0001583	missense	84286					integral to membrane		g.chr4:952220A>C	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1451A>C	4.37:g.952220A>C	ENSP00000264771:p.His484Pro					TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	p.H484P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1636	+			484					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1451A>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	6.831	0.522566	0.13066	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.44083	1.52;1.51;0.93	3.52	-7.04	0.01578	.	3.825800	0.01085	U	0.005077	T	0.17109	0.0411	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24048	-1.0171	10	0.34782	T	0.22	-15.717	8.4105	0.32640	0.4546:0.1236:0.4219:0.0	.	402;484	D3DVN5;Q9BSA9	.;TM175_HUMAN	P	484;368;402	ENSP00000264771:H484P;ENSP00000427039:H368P;ENSP00000423669:H402P	ENSP00000264771:H484P	H	+	2	0	TMEM175	942220	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.007000	0.03667	-2.236000	0.00713	-0.589000	0.04120	CAC		0.736	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		12	21	0	0	0	1	0	12	21				
PKN3	29941	broad.mit.edu	37	9	131479035	131479035	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:131479035C>G	ENST00000291906.4	+	16	2211	c.1818C>G	c.(1816-1818)tgC>tgG	p.C606W	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCCTGTACTGCGAGAAGCGGA	0.602																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1816-1818)tgC>tgG		protein kinase N3							138.0	117.0	124.0					9																	131479035		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131479035C>G	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1818C>G	9.37:g.131479035C>G	ENSP00000291906:p.Cys606Trp					PKN3_ENST00000485301.1_3'UTR	p.C606W	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			16	2211	+			606			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1818C>G	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107824	0.56291	.	.	ENSG00000160447	ENST00000291906	T	0.24151	1.87	5.44	-3.5	0.04710	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	0.34948	0.0915	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23476	-1.0187	9	0.87932	D	0	.	11.1236	0.48304	0.0:0.4356:0.0:0.5644	.	606	Q6P5Z2	PKN3_HUMAN	W	606	ENSP00000291906:C606W	ENSP00000291906:C606W	C	+	3	2	PKN3	130518856	0.888000	0.30383	0.966000	0.40874	0.960000	0.62799	-0.103000	0.10940	-0.776000	0.04578	-1.202000	0.01658	TGC		0.602	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		16	150	0	0	0	1	0	16	150				
UTRN	7402	broad.mit.edu	37	6	144835787	144835787	+	Splice_Site	SNP	G	G	T	rs201062311		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:144835787G>T	ENST00000367545.3	+	36	5075	c.5075G>T	c.(5074-5076)cGt>cTt	p.R1692L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1692	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATAATTAGCGTTTAGTATCT	0.388																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.e36-1		utrophin							110.0	112.0	111.0					6																	144835787		2203	4300	6503	SO:0001630	splice_region_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144835787G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5074-1G>T	6.37:g.144835787G>T							p.R1692_splice	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	36	5075	+		Ovarian(120;0.218)	1692			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37	c.5073_splice	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782084	0.90282	.	.	ENSG00000152818	ENST00000367545	T	0.50548	0.74	5.34	5.34	0.76211	.	0.000000	0.49916	D	0.000127	T	0.64649	0.2617	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65915	-0.6052	10	0.59425	D	0.04	.	19.3965	0.94608	0.0:0.0:1.0:0.0	.	1692	P46939	UTRO_HUMAN	L	1692	ENSP00000356515:R1692L	ENSP00000356515:R1692L	R	+	2	0	UTRN	144877480	1.000000	0.71417	0.984000	0.44739	0.940000	0.58332	7.572000	0.82409	2.664000	0.90586	0.655000	0.94253	CGT		0.388	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Missense_Mutation	11	108	1	0	3.07112e-06	1	3.07112e-06	11	108				
HRNR	388697	broad.mit.edu	37	1	152191766	152191766	+	Missense_Mutation	SNP	C	C	T	rs368316243		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:152191766C>T	ENST00000368801.2	-	3	2414	c.2339G>A	c.(2338-2340)cGa>cAa	p.R780Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	780					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACCCATGTCGGACACGGCT	0.602																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2338-2340)cGa>cAa		hornerin		C	GLN/ARG	0,4406		0,0,2203	72.0	76.0	75.0		2339	-6.1	0.0	1		75	2,8598		0,2,4298	no	missense	HRNR	NM_001009931.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	780/2851	152191766	2,13004	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191766C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2339G>A	1.37:g.152191766C>T	ENSP00000357791:p.Arg780Gln					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R780Q	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2414	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		780					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2339G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.654	0.898922	0.17686	0.0	2.33E-4	ENSG00000197915	ENST00000368801	T	0.04654	3.58	3.06	-6.13	0.02118	.	.	.	.	.	T	0.00695	0.0023	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.47586	-0.9106	9	0.24483	T	0.36	.	5.4697	0.16662	0.0:0.1723:0.4738:0.3539	.	780	Q86YZ3	HORN_HUMAN	Q	780	ENSP00000357791:R780Q	ENSP00000357791:R780Q	R	-	2	0	HRNR	150458390	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.585000	0.05794	-1.585000	0.01634	-1.628000	0.00784	CGA		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		35	79	0	0	0	1	0	35	79				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	43	0	0	0	1	0	19	43				
NACA2	342538	broad.mit.edu	37	17	59668211	59668211	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr17:59668211C>T	ENST00000521764.1	-	1	352	c.331G>A	c.(331-333)Gtc>Atc	p.V111I		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	111	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTCTTGTAGACGTCCAGTTTT	0.443																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(331-333)Gtc>Atc		nascent polypeptide-associated complex alpha subunit 2							181.0	180.0	180.0					17																	59668211		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668211C>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.331G>A	17.37:g.59668211C>T	ENSP00000427802:p.Val111Ile						p.V111I	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	352	-	all_epithelial(1;3.12e-14)		111			NAC-A/B.		Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.331G>A	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040939	0.55003	.	.	ENSG00000253506	ENST00000521764	T	0.65732	-0.17	0.753	0.753	0.18404	Nascent polypeptide-associated complex NAC (2);	0.000000	0.64402	U	0.000010	T	0.75133	0.3808	M	0.83603	2.65	0.48762	D	0.999704	D	0.89917	1.0	D	0.91635	0.999	T	0.73898	-0.3837	9	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	111	Q9H009	NACA2_HUMAN	I	111	ENSP00000427802:V111I	.	V	-	1	0	NACA2	57022993	1.000000	0.71417	0.314000	0.25224	0.041000	0.13682	5.234000	0.65343	0.702000	0.31825	0.411000	0.27672	GTC		0.443	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		80	198	0	0	0	1	0	80	198				
OR4C16	219428	broad.mit.edu	37	11	55339694	55339694	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:55339694C>T	ENST00000314634.3	+	1	91	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						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)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TATTTTTTTGCGTCTCTACTT	0.373																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(91-93)Cgt>Tgt		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							182.0	171.0	175.0					11																	55339694		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339694C>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.91C>T	11.37:g.55339694C>T	ENSP00000324913:p.Arg31Cys						p.R31C	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	91	+		all_epithelial(135;0.0748)	31					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.91C>T	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	C	9.601	1.128613	0.21041	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	-6.75	0.01738	.	2.239510	0.01631	N	0.023546	T	0.00109	0.0003	N	0.00677	-1.265	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.49670	-0.8915	10	0.66056	D	0.02	.	2.689	0.05115	0.0976:0.2919:0.1926:0.418	.	31	Q8NGL9	OR4CG_HUMAN	C	31	ENSP00000324913:R31C	ENSP00000324913:R31C	R	+	1	0	OR4C16	55096270	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.079000	0.00082	-1.262000	0.02459	-2.709000	0.00134	CGT		0.373	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		47	87	0	0	0	1	0	47	87				
ZNF285	26974	broad.mit.edu	37	19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	rs79240579		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:44892085T>A	ENST00000330997.4	-	4	386	c.322A>T	c.(322-324)Agt>Tgt	p.S108C	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTCTTCACTGAGGGAAACA	0.393																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(322-324)Agt>Tgt		zinc finger protein 285							90.0	89.0	89.0					19																	44892085		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892085T>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.322A>T	19.37:g.44892085T>A	ENSP00000333595:p.Ser108Cys					ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron	p.S108C	NM_152354.3	NP_689567.3					4	386	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.322A>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	5.371	0.253712	0.10185	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05717	3.4	3.22	1.05	0.20165	.	.	.	.	.	T	0.02119	0.0066	N	0.01668	-0.77	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43814	-0.9368	9	0.49607	T	0.09	.	2.7258	0.05213	0.644:0.0:0.1304:0.2256	.	132;108	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	C	131;108	ENSP00000333595:S108C	ENSP00000333595:S108C	S	-	1	0	ZNF285	49583925	0.000000	0.05858	0.023000	0.16930	0.271000	0.26615	0.103000	0.15292	0.036000	0.15547	-0.610000	0.04054	AGT		0.393	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		4	84	0	0	0	1	0	4	84				
ITIH5	80760	broad.mit.edu	37	10	7679258	7679258	+	Silent	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr10:7679258C>T	ENST00000256861.6	-	5	663	c.585G>A	c.(583-585)gcG>gcA	p.A195A	ITIH5_ENST00000397145.2_Silent_p.A195A|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.A195A|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	195					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCGATGCCCGCGCTCTCCA	0.657																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(583-585)gcG>gcA		inter-alpha-trypsin inhibitor heavy chain family, member 5							71.0	72.0	72.0					10																	7679258		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679258C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.585G>A	10.37:g.7679258C>T						ITIH5_ENST00000397145.2_Silent_p.A195A|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.A195A	p.A195A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			5	663	-			195					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.585G>A																																																																																					0.657	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		61	120	0	0	0	1	0	61	120				
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e3-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.352_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	32	38	0	0	0	1	0	32	38				
DNAH6	1768	broad.mit.edu	37	2	84784902	84784902	+	Nonsense_Mutation	SNP	T	T	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:84784902T>G	ENST00000237449.6	+	10	1654	c.1646T>G	c.(1645-1647)tTa>tGa	p.L549*	DNAH6_ENST00000389394.3_Nonsense_Mutation_p.L549*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.L549*			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	549	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AACACTGTGTTATCAGTTCCT	0.343																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1645-1647)tTa>tGa		dynein, axonemal, heavy chain 6							153.0	143.0	147.0					2																	84784902		2203	4300	6503	SO:0001587	stop_gained	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784902T>G	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1646T>G	2.37:g.84784902T>G	ENSP00000237449:p.Leu549*					DNAH6_ENST00000398278.2_Nonsense_Mutation_p.L549*|DNAH6_ENST00000237449.6_Nonsense_Mutation_p.L549*	p.L549*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			11	1783	+			549			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Nonsense_Mutation	SNP	ENST00000237449.6	37	c.1646T>G	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	34	5.382346	0.95967	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	.	.	.	5.22	5.22	0.72569	.	0.000000	0.36740	N	0.002440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.0916	0.64995	0.0:0.0:0.0:1.0	.	.	.	.	X	549	.	ENSP00000237449:L549X	L	+	2	0	DNAH6	84638413	1.000000	0.71417	0.994000	0.49952	0.345000	0.29048	5.100000	0.64560	1.969000	0.57287	0.533000	0.62120	TTA		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		42	97	0	0	0	1	0	42	97				
CD163L1	283316	broad.mit.edu	37	12	7526163	7526163	+	Silent	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:7526163G>A	ENST00000313599.3	-	14	3540	c.3483C>T	c.(3481-3483)aaC>aaT	p.N1161N	CD163L1_ENST00000416109.2_Silent_p.N1171N|CD163L1_ENST00000396630.1_Silent_p.N1161N|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1161	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCAGGTCCCGTTATAGAAGA	0.512																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3481-3483)aaC>aaT		CD163 molecule-like 1							138.0	145.0	143.0					12																	7526163		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526163G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3483C>T	12.37:g.7526163G>A						CD163L1_ENST00000416109.2_Silent_p.N1171N|CD163L1_ENST00000396630.1_Silent_p.N1161N	p.N1161N			Q9NR16	C163B_HUMAN			14	3540	-			1161			SRCR 11.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3483C>T	CCDS8577.1																																																																																				0.512	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		9	301	0	0	0	1	0	9	301				
CIC	23152	broad.mit.edu	37	19	42791828	42791828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42791828G>A	ENST00000575354.2	+	5	754	c.714G>A	c.(712-714)tgG>tgA	p.W238*	CIC_ENST00000572681.2_Nonsense_Mutation_p.W1147*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCGAGTGGTGGTATGCCCTGG	0.617			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3439-3441)tgG>tgA		capicua transcriptional repressor							82.0	75.0	77.0					19																	42791828		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791828G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.714G>A	19.37:g.42791828G>A	ENSP00000458663:p.Trp238*					CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*|CIC_ENST00000575354.2_Nonsense_Mutation_p.W238*	p.W1147*			Q96RK0	CIC_HUMAN			6	3509	+		Prostate(69;0.00682)	238			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3441G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	41	8.802137	0.98960	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.5755	14.5138	0.67807	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000160740:W238X	W	+	3	0	CIC	47483668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	TGG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	47	0	0	0	1	0	32	47				
SPATA13	221178	broad.mit.edu	37	13	24858319	24858319	+	Missense_Mutation	SNP	C	C	G	rs367888214		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr13:24858319C>G	ENST00000382095.4	+	4	743	c.336C>G	c.(334-336)aaC>aaG	p.N112K	SPATA13_ENST00000409126.1_Missense_Mutation_p.N34K|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.N615K|SPATA13_ENST00000343003.6_Missense_Mutation_p.N56K|SPATA13_ENST00000382108.3_Missense_Mutation_p.N737K|SPATA13_ENST00000399949.2_Missense_Mutation_p.N34K|SPATA13_ENST00000424834.2_Missense_Mutation_p.N737K	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	112	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGATGACAACGgtagtgagg	0.493																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2209-2211)aaC>aaG		spermatogenesis associated 13							78.0	67.0	70.0					13																	24858319		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24858319C>G	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.336C>G	13.37:g.24858319C>G	ENSP00000371527:p.Asn112Lys					SPATA13_ENST00000343003.6_Missense_Mutation_p.N56K|SPATA13_ENST00000382108.3_Missense_Mutation_p.N737K|SPATA13_ENST00000382095.4_Missense_Mutation_p.N112K|SPATA13_ENST00000399949.2_Missense_Mutation_p.N34K|SPATA13_ENST00000409126.1_Missense_Mutation_p.N34K	p.N737K			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	7	2684	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	112					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.2211C>G	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.051|8.051	0.765954|0.765954	0.15983|0.15983	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083|ENST00000424834	T;T;T;T;T;T;T|.	0.77229|.	-0.73;-0.4;-1.08;-0.44;-1.05;-0.46;-0.46|.	5.65|5.65	-9.98|-9.98	0.00438|0.00438	.|.	0.082034|.	0.85682|.	N|.	0.000000|.	T|T	0.54647|0.54647	0.1871|0.1871	L|L	0.55481|0.55481	1.735|1.735	0.22745|0.22745	N|N	0.998781|0.998781	D;B;D;B;B;B|.	0.57899|.	0.981;0.01;0.969;0.006;0.018;0.002|.	P;B;P;B;B;B|.	0.51974|.	0.625;0.01;0.686;0.023;0.007;0.004|.	T|T	0.60419|0.60419	-0.7267|-0.7267	10|5	0.06099|.	T|.	0.92|.	.|.	20.865|20.865	0.99795|0.99795	0.0:0.2172:0.0:0.7828|0.0:0.2172:0.0:0.7828	.|.	34;56;58;58;34;112|.	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96|.	.;.;.;.;.;SPT13_HUMAN|.	K|G	737;112;72;58;34;34;56;56|775	ENSP00000371542:N737K;ENSP00000371527:N112K;ENSP00000401605:N72K;ENSP00000382830:N34K;ENSP00000386471:N34K;ENSP00000343631:N56K;ENSP00000397498:N56K|.	ENSP00000343631:N56K|.	N|R	+|+	3|1	2|2	SPATA13|SPATA13	23756319|23756319	0.018000|0.018000	0.18449|0.18449	0.028000|0.028000	0.17463|0.17463	0.116000|0.116000	0.19942|0.19942	-1.365000|-1.365000	0.02587|0.02587	-2.529000|-2.529000	0.00492|0.00492	-2.133000|-2.133000	0.00342|0.00342	AAC|CGG		0.493	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		19	12	0	0	0	1	0	19	12				
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368389.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368396.4_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368390.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL																																	ENST00000368395.1				Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(334-336)Acc>Ccc		mucin 1, cell surface associated																																				SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161799T>G	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.334A>C	1.37:g.155161799T>G	ENSP00000357380:p.Thr112Pro					MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368398.3_Intron	p.T112P	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	405	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		892					A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.334A>C	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC		0.711	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456		11	25	0	0	0	1	0	11	25				
CIC	23152	broad.mit.edu	37	19	42796879	42796879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42796879C>T	ENST00000575354.2	+	14	3377	c.3337C>T	c.(3337-3339)Cag>Tag	p.Q1113*	CIC_ENST00000572681.2_Nonsense_Mutation_p.Q2021*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q1112*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1113	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGCCATCCCAGGCCCCCCC	0.682			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6061-6063)Cag>Tag		capicua transcriptional repressor							45.0	54.0	51.0					19																	42796879		2203	4299	6502	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796879C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3337C>T	19.37:g.42796879C>T	ENSP00000458663:p.Gln1113*					CIC_ENST00000160740.3_Nonsense_Mutation_p.Q1112*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q1113*	p.Q2021*			Q96RK0	CIC_HUMAN			15	6129	+		Prostate(69;0.00682)	1113					Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.6061C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442044	0.83993	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.67	13.7474	0.62883	0.0:1.0:0.0:0.0	.	.	.	.	X	1113	.	ENSP00000160740:Q1113X	Q	+	1	0	CIC	47488719	1.000000	0.71417	0.995000	0.50966	0.676000	0.39594	3.621000	0.54210	2.635000	0.89317	0.484000	0.47621	CAG		0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	79	0	0	0	1	0	6	79				
GNAI1	2770	broad.mit.edu	37	7	79842082	79842082	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:79842082G>C	ENST00000351004.3	+	7	1144	c.771G>C	c.(769-771)aaG>aaC	p.K257N	GNAI1_ENST00000457358.2_Missense_Mutation_p.K205N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	257					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTAACAACAAGTGGTTTACAG	0.323																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(769-771)aaG>aaC		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							78.0	79.0	79.0					7																	79842082		2203	4297	6500	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79842082G>C	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.771G>C	7.37:g.79842082G>C	ENSP00000343027:p.Lys257Asn					GNAI1_ENST00000457358.2_Missense_Mutation_p.K205N	p.K257N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			7	1144	+			257					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.771G>C	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704013	0.68615	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.89810	-2.57;-2.57	6.17	-2.26	0.06867	.	0.000000	0.85682	D	0.000000	D	0.91147	0.7212	M	0.78344	2.41	0.80722	D	1	P	0.49253	0.921	P	0.56612	0.802	D	0.89074	0.3471	9	.	.	.	.	12.6362	0.56685	0.5218:0.0:0.4782:0.0	.	257	P63096	GNAI1_HUMAN	N	257;205	ENSP00000343027:K257N;ENSP00000410572:K205N	.	K	+	3	2	GNAI1	79680018	1.000000	0.71417	0.984000	0.44739	0.999000	0.98932	1.263000	0.33004	-0.394000	0.07727	0.655000	0.94253	AAG		0.323	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		4	79	0	0	0	1	0	4	79				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	38	0	0	0	1	0	3	38				
EPHA4	2043	broad.mit.edu	37	2	222301821	222301821	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:222301821G>T	ENST00000281821.2	-	12	2137	c.2096C>A	c.(2095-2097)aCa>aAa	p.T699K	EPHA4_ENST00000392071.4_Missense_Mutation_p.T648K|EPHA4_ENST00000409854.1_Missense_Mutation_p.T699K|EPHA4_ENST00000409938.1_Missense_Mutation_p.T699K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	699	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CATGTACTCTGTTATGATCAT	0.378																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2095-2097)aCa>aAa		EPH receptor A4							106.0	108.0	108.0					2																	222301821		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301821G>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2096C>A	2.37:g.222301821G>T	ENSP00000281821:p.Thr699Lys					EPHA4_ENST00000392071.4_Missense_Mutation_p.T648K|EPHA4_ENST00000409854.1_Missense_Mutation_p.T699K|EPHA4_ENST00000409938.1_Missense_Mutation_p.T699K	p.T699K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	12	2137	-		Renal(207;0.0183)	699			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2096C>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706135	0.89018	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86822	0.2005	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	699	P54764	EPHA4_HUMAN	K	699;699;699;648	ENSP00000281821:T699K;ENSP00000386276:T699K;ENSP00000386829:T699K;ENSP00000375923:T648K	ENSP00000281821:T699K	T	-	2	0	EPHA4	222010065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.004000	0.88535	2.854000	0.98071	0.655000	0.94253	ACA		0.378	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			33	53	1	0	3.86903e-22	1	4.00972e-22	33	53				
NLRP3	114548	broad.mit.edu	37	1	247588165	247588165	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:247588165G>A	ENST00000336119.3	+	3	2166	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	NLRP3_ENST00000366497.2_Missense_Mutation_p.A474T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A474T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A474T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	474	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCTTTGGCTGCAGATGGAAT	0.582																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1420-1422)Gca>Aca		NLR family, pyrin domain containing 3							27.0	28.0	28.0					1																	247588165		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588165G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1420G>A	1.37:g.247588165G>A	ENSP00000337383:p.Ala474Thr					NLRP3_ENST00000348069.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A474T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A474T|NLRP3_ENST00000336119.3_Missense_Mutation_p.A474T|NLRP3_ENST00000474792.1_3'UTR	p.A474T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2200	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	474			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1420G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966543	0.53507	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.17	4.17	0.49024	NACHT nucleoside triphosphatase (1);	0.000000	0.52532	D	0.000063	D	0.91958	0.7453	M	0.85197	2.74	0.40143	D	0.976858	D;D;D;D;P	0.89917	0.979;0.998;1.0;0.987;0.866	P;D;D;D;P	0.91635	0.78;0.98;0.999;0.966;0.766	D	0.91980	0.5594	10	0.48119	T	0.1	.	12.2773	0.54744	0.0:0.0:1.0:0.0	.	474;474;474;474;474	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	474	ENSP00000375704:A474T;ENSP00000355453:A474T;ENSP00000337383:A474T;ENSP00000294752:A474T;ENSP00000355452:A474T;ENSP00000375703:A474T	ENSP00000337383:A474T	A	+	1	0	NLRP3	245654788	0.998000	0.40836	0.236000	0.24074	0.087000	0.18053	4.494000	0.60347	2.612000	0.88384	0.655000	0.94253	GCA		0.582	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		11	29	0	0	0	1	0	11	29				
HIST1H3G	8355	broad.mit.edu	37	6	26271605	26271605	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:26271605C>T	ENST00000305910.3	-	1	7	c.8G>A	c.(7-9)cGc>cAc	p.R3H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	3					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTGCTTGGTGCGGGCCATCTC	0.562																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(7-9)cGc>cAc		histone cluster 1, H3g							24.0	27.0	26.0					6																	26271605		2192	4283	6475	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271605C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.8G>A	6.37:g.26271605C>T	ENSP00000439660:p.Arg3His						p.R3H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	7	-			3					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.8G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368416	0.42003	.	.	ENSG00000256018	ENST00000305910	T	0.46819	0.86	4.36	4.36	0.52297	.	.	.	.	.	T	0.53126	0.1777	.	.	.	0.35535	D	0.802545	.	.	.	.	.	.	T	0.60762	-0.7199	6	0.62326	D	0.03	.	16.2821	0.82697	0.0:1.0:0.0:0.0	.	.	.	.	H	3	ENSP00000439660:R3H	ENSP00000439660:R3H	R	-	2	0	HIST1H3G	26379584	0.989000	0.36119	0.647000	0.29507	0.008000	0.06430	5.890000	0.69774	2.157000	0.67596	0.563000	0.77884	CGC		0.562	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		4	63	0	0	0	1	0	4	63				
POU2AF1	5450	broad.mit.edu	37	11	111229622	111229622	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:111229622G>A	ENST00000393067.3	-	2	552	c.38C>T	c.(37-39)cCa>cTa	p.P13L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	13					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGCCGGGGCTGGGGCTTGCTC	0.632			T	BCL6	NHL																																	ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(37-39)cCa>cTa		POU class 2 associating factor 1							48.0	49.0	49.0					11																	111229622		2201	4297	6498	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111229622G>A		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.38C>T	11.37:g.111229622G>A	ENSP00000376786:p.Pro13Leu						p.P13L	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	2	552	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	13					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.38C>T	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165888	0.78339	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.32753	1.44;1.44	5.0	5.0	0.66597	.	0.238634	0.35936	N	0.002889	T	0.33990	0.0882	L	0.45581	1.43	0.49389	D	0.999781	P	0.48089	0.905	P	0.47941	0.562	T	0.03761	-1.1006	10	0.15499	T	0.54	-1.2837	16.0815	0.81007	0.0:0.0:1.0:0.0	.	13	Q16633	OBF1_HUMAN	L	13;15	ENSP00000376786:P13L;ENSP00000433527:P15L	ENSP00000376786:P13L	P	-	2	0	POU2AF1	110734832	0.999000	0.42202	0.973000	0.42090	0.656000	0.38851	3.990000	0.56965	2.331000	0.79229	0.305000	0.20034	CCA		0.632	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		18	28	0	0	0	1	0	18	28				
PSPH	5723	broad.mit.edu	37	7	56084931	56084931	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:56084931A>C	ENST00000395471.3	-	6	1222	c.417T>G	c.(415-417)ttT>ttG	p.F139L	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.F139L			P78330	SERB_HUMAN	phosphoserine phosphatase	139					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTTACCGTTAAAGTAGAATT	0.383																																						ENST00000395471.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(415-417)ttT>ttG		phosphoserine phosphatase							102.0	81.0	88.0					7																	56084931		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56084931A>C	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.417T>G	7.37:g.56084931A>C	ENSP00000378854:p.Phe139Leu					PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.F139L	p.F139L			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1222	-	Breast(14;0.214)		139					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.417T>G	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	A	9.099	1.003578	0.19121	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.83673	-1.75;-1.75;-1.75	4.85	-5.11	0.02901	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	L	0.48935	1.535	0.48452	D	0.999657	B;B	0.18610	0.029;0.007	B;B	0.18263	0.021;0.021	T	0.55692	-0.8101	10	0.11485	T	0.65	-11.5252	14.6984	0.69139	0.4629:0.0:0.5371:0.0	.	139;139	Q53EY1;P78330	.;SERB_HUMAN	L	139	ENSP00000275605:F139L;ENSP00000378854:F139L;ENSP00000398653:F139L	ENSP00000275605:F139L	F	-	3	2	PSPH	56052425	0.523000	0.26274	0.980000	0.43619	0.774000	0.43823	-0.111000	0.10807	-0.710000	0.05001	-0.457000	0.05445	TTT		0.383	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		38	31	0	0	0	1	0	38	31				
FGF21	26291	broad.mit.edu	37	19	49261318	49261318	+	Silent	SNP	A	A	C			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:49261318A>C	ENST00000593756.1	+	4	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Silent_p.A157A			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682																																						ENST00000593756.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(469-471)gcA>gcC		fibroblast growth factor 21							28.0	35.0	33.0					19																	49261318		2202	4298	6500	SO:0001819	synonymous_variant	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261318A>C	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.471A>C	19.37:g.49261318A>C						FGF21_ENST00000222157.3_Silent_p.A157A	p.A157A			Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	4	1043	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	157					Q8N683	Silent	SNP	ENST00000593756.1	37	c.471A>C	CCDS12734.1																																																																																				0.682	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			12	42	0	0	0	1	0	12	42				
USP39	10713	broad.mit.edu	37	2	85843529	85843529	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:85843529C>T	ENST00000323701.6	+	1	221	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	USP39_ENST00000409025.1_Missense_Mutation_p.R71W|USP39_ENST00000409470.1_Missense_Mutation_p.R71W|USP39_ENST00000459775.1_Intron|USP39_ENST00000409766.3_Missense_Mutation_p.R71W|USP39_ENST00000450066.2_Intron	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	71	Arg-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCCGTTTGTGCGGGTGAAGCG	0.726																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(211-213)Cgg>Tgg		ubiquitin specific peptidase 39							6.0	9.0	8.0					2																	85843529		2054	4152	6206	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85843529C>T	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.211C>T	2.37:g.85843529C>T	ENSP00000312981:p.Arg71Trp					USP39_ENST00000409766.3_Missense_Mutation_p.R71W|USP39_ENST00000409470.1_Missense_Mutation_p.R71W|USP39_ENST00000409025.1_Missense_Mutation_p.R71W|USP39_ENST00000459775.1_Intron|USP39_ENST00000450066.2_Intron	p.R71W	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			1	221	+			71			Arg-rich.		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.211C>T	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752858	0.69648	.	.	ENSG00000168883	ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T	0.19669	2.14;2.41;2.41;2.13	5.1	4.21	0.49690	.	0.328645	0.29830	N	0.011100	T	0.27169	0.0666	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.994;0.994	D;D;D;D	0.76575	0.988;0.919;0.919;0.919	T	0.09707	-1.0662	10	0.72032	D	0.01	-0.6357	10.7499	0.46203	0.1895:0.8105:0.0:0.0	.	71;71;71;71	G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;SNUT2_HUMAN	W	71	ENSP00000386572:R71W;ENSP00000386864:R71W;ENSP00000312981:R71W;ENSP00000386803:R71W	ENSP00000312981:R71W	R	+	1	2	USP39	85697040	0.991000	0.36638	1.000000	0.80357	0.832000	0.47134	-0.095000	0.11077	1.365000	0.46057	0.561000	0.74099	CGG		0.726	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		3	29	0	0	0	1	0	3	29				
TEAD1	7003	broad.mit.edu	37	11	12883803	12883803	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:12883803A>G	ENST00000527575.1	+	3	322	c.209A>G	c.(208-210)aAt>aGt	p.N70S	TEAD1_ENST00000334310.6_Missense_Mutation_p.N55S|TEAD1_ENST00000361985.2_Missense_Mutation_p.N70S|TEAD1_ENST00000361905.4_Missense_Mutation_p.N55S|TEAD1_ENST00000527636.1_Missense_Mutation_p.N70S			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	70					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCAGGTAGGAATGAATTGATA	0.403																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(163-165)aAt>aGt		TEA domain family member 1 (SV40 transcriptional enhancer factor)							106.0	95.0	99.0					11																	12883803		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12883803A>G	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.209A>G	11.37:g.12883803A>G	ENSP00000435977:p.Asn70Ser					TEAD1_ENST00000527636.1_Missense_Mutation_p.N70S|TEAD1_ENST00000334310.6_Missense_Mutation_p.N55S|TEAD1_ENST00000527575.1_Missense_Mutation_p.N70S|TEAD1_ENST00000361985.2_Missense_Mutation_p.N70S	p.N55S	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	4	829	+			70					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000527575.1	37	c.164A>G		.	.	.	.	.	.	.	.	.	.	A	24.8	4.568505	0.86439	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.79	5.79	0.91817	.	0.041690	0.85682	D	0.000000	T	0.81754	0.4889	H	0.94183	3.505	0.80722	D	1	D	0.59357	0.985	D	0.64687	0.928	D	0.86752	0.1961	10	0.66056	D	0.02	-13.2949	15.7943	0.78398	1.0:0.0:0.0:0.0	.	70	P28347	TEAD1_HUMAN	S	55;70;70;55;70	ENSP00000355332:N55S;ENSP00000435233:N70S;ENSP00000435977:N70S;ENSP00000334754:N55S;ENSP00000354588:N70S	ENSP00000334754:N55S	N	+	2	0	TEAD1	12840379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.208000	0.71279	0.533000	0.62120	AAT		0.403	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961		5	54	0	0	0	1	0	5	54				
SDHAP1	255812	broad.mit.edu	37	3	195690149	195690149	+	RNA	SNP	A	A	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:195690149A>G	ENST00000427841.1	-	0	2325					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TGACACATGCATGAGCTATTA	0.498																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690149A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690149A>G								NR_003264.2						0	2325	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.498	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	10	0	0	0	1	0	3	10				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	116	0	0	0	1	0	4	116				
SEC16B	89866	broad.mit.edu	37	1	177936856	177936856	+	Silent	SNP	G	G	A			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:177936856G>A	ENST00000308284.6	-	2	350	c.261C>T	c.(259-261)gaC>gaT	p.D87D	SEC16B_ENST00000464631.2_Silent_p.D87D|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	87	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTTCGTAATAGTCAACTCCAG	0.517																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(259-261)gaC>gaT		SEC16 homolog B (S. cerevisiae)							74.0	77.0	76.0					1																	177936856		2023	4188	6211	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177936856G>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.261C>T	1.37:g.177936856G>A						SEC16B_ENST00000464631.1_Silent_p.D87D|RP4-798P15.3_ENST00000528461.1_Silent_p.D87D|RP4-798P15.3_ENST00000354921.2_5'UTR	p.D87D	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			2	350	-			87			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.261C>T	CCDS44281.1																																																																																				0.517	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		7	64	0	0	0	1	0	7	64				
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(142-144)gccfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388441_1388442insCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	Exception_encountered	4.37:g.1388441_1388442insCG	ENSP00000323978:p.Met48fs						p.A48fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3102_3103	+			48					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.142_143insCG	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	938						7	938	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			11	237						11	237	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-	rs373152976		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:139412283_139412285delGTT	ENST00000277541.6	-	8	1435_1437	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGACGCACTCGTTGACGTCGATC	0.66			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Deletion - In frame(2)	p.N454delN(2)	central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1360-1362)del		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412283_139412285delGTT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1360_1362delAAC	9.37:g.139412283_139412285delGTT	ENSP00000277541:p.Asn454del	HNSCC(8;0.001)					p.N454del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1435_1437	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	454			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1360_1362delAAC	CCDS43905.1																																																																																				0.660	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	113						13	113	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			5	10						5	10	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81155068	81155069	+	RNA	INS	-	-	A	rs557576474|rs377651946		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:81155068_81155069insA	ENST00000534142.1	-	0	1000				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						gactccatctcaaaaaaaaaaa	0.525																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81155068_81155069insA	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81155079_81155079dupA						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	4667	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	INS	ENST00000534142.1	37																																																																																						0.525	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			2	4						2	4	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29086616	29086616	+	RNA	DEL	A	A	-			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr17:29086616delA	ENST00000582557.1	+	0	1064																											TTGTGAATGTAAAAAAAAAGT	0.299																																						ENST00000582557.1																			0																																																			0							g.chr17:29086616delA																													17.37:g.29086616delA														0	1064	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.299	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			2	4						2	4	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009551	1009577	+	In_Frame_Del	DEL	GCCCCCGCGGAGGCCCCACCACACTCT	GCCCCCGCGGAGGCCCCACCACACTCT	-	rs573396231|rs58448123|rs142516571	byFrequency	TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENST00000234389.3	+	9	3101_3127	c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	c.(3082-3108)gcccccgcggaggccccaccacactctdel	p.APAEAPPHS1028del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	1028					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGG	0.692														895	0.178714	0.1959	0.1744	5008	,	,		11397	0.1042		0.2167	False		,,,				2504	0.1963					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(3082-3108)del		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)			362,1598		137,88,755						-8.8	0.0		dbSNP_129	2	883,3849		318,247,1801	no	coding	GRIN3B	NM_138690.1		455,335,2556	A1A1,A1R,RR		18.6602,18.4694,18.6043				1245,5447				SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	19.37:g.1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENSP00000234389:p.Ala1028_Ser1036del						p.APAEAPPHS1028del	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	3101_3127	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	1028					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	CCDS32861.1																																																																																				0.692	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	3						4	3	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795615	42795615	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42795615delA	ENST00000575354.2	+	10	2735	c.2695delA	c.(2695-2697)aaafs	p.K899fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.K1808fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K899fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	899	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCACCCCCCAAAGGTGAGAC	0.617			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5422-5424)aafs		capicua transcriptional repressor							53.0	54.0	54.0					19																	42795615		2174	4270	6444	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795615delA	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2695delA	19.37:g.42795615delA	ENSP00000458663:p.Lys899fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.K899fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K899fs	p.K1808fs			Q96RK0	CIC_HUMAN			11	5490	+		Prostate(69;0.00682)	899					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5422delA	CCDS12601.1																																																																																				0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	120						18	120	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17072572	17072576	+	Frame_Shift_Del	DEL	ATTCC	ATTCC	-			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr22:17072572_17072576delATTCC	ENST00000359963.3	-	1	1124_1128	c.865_869delGGAAT	c.(865-870)ggaattfs	p.GI289fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	289					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCCACATTAATTCCTGCAGCTGCT	0.507																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(865-870)tfs		chaperonin containing TCP1, subunit 8 (theta)-like 2																																				SO:0001589	frameshift_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072572_17072576delATTCC	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.865_869delGGAAT	22.37:g.17072572_17072576delATTCC	ENSP00000353048:p.Gly289fs						p.GI289fs	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1124_1128	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	289					A4QPH3|Q9UJS3	Frame_Shift_Del	DEL	ENST00000359963.3	37	c.865_869delGGAAT	CCDS13738.1																																																																																				0.507	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			16	278						16	278	---	---	---	---
ZFX	7543	broad.mit.edu	37	X	24229107	24229109	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chrX:24229107_24229109delAAG	ENST00000379177.1	+	11	2459_2461	c.2032_2034delAAG	c.(2032-2034)aagdel	p.K679del	ZFX_ENST00000379188.3_In_Frame_Del_p.K679del|ZFX_ENST00000539115.1_In_Frame_Del_p.K450del|ZFX_ENST00000338565.3_In_Frame_Del_p.K629del|ZFX_ENST00000540034.1_In_Frame_Del_p.K718del|ZFX_ENST00000304543.5_In_Frame_Del_p.K679del	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	679					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTCAGAACTCAAGAAACACGTGG	0.424																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2032-2034)del		zinc finger protein, X-linked																																				SO:0001651	inframe_deletion	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229107_24229109delAAG		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2032_2034delAAG	X.37:g.24229107_24229109delAAG	ENSP00000368475:p.Lys679del					ZFX_ENST00000304543.5_In_Frame_Del_p.K679del|ZFX_ENST00000540034.1_In_Frame_Del_p.K718del|ZFX_ENST00000379188.3_In_Frame_Del_p.K679del|ZFX_ENST00000539115.1_In_Frame_Del_p.K450del|ZFX_ENST00000338565.3_In_Frame_Del_p.K629del	p.K679del	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2459_2461	+			679					B9EG97|O43668|Q8WYJ8	In_Frame_Del	DEL	ENST00000379177.1	37	c.2032_2034delAAG	CCDS14211.1																																																																																				0.424	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		15	52						15	52	---	---	---	---
