#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TCEB3	6924	broad.mit.edu	37	1	24083516	24083516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:24083516G>T	ENST00000418390.2	+	10	2507	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.E720*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	746					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCCAGCCCTGAGGAGCCGGC	0.577																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(2236-2238)Gag>Tag		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							136.0	134.0	135.0					1																	24083516		2203	4300	6503	SO:0001587	stop_gained	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24083516G>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.2236G>T	1.37:g.24083516G>T	ENSP00000395574:p.Glu746*		Somatic				TCEB3_ENST00000609199.1_Nonsense_Mutation_p.E720*	p.E746*	NM_003198.2	NP_003189.2	WXS	Illumina GAIIx	Phase_I	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	10	2507	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	746					B2R7Q8|Q8IXH1	Nonsense_Mutation	SNP	ENST00000418390.2	37	c.2236G>T	CCDS239.2	.	.	.	.	.	.	.	.	.	.	G	39	7.576562	0.98368	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.41	3.51	0.40186	.	0.309563	0.27654	N	0.018415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-16.8099	10.808	0.46529	0.1338:0.0:0.8662:0.0	.	.	.	.	X	746	.	ENSP00000395574:E746X	E	+	1	0	TCEB3	23956103	0.945000	0.32115	0.935000	0.37517	0.578000	0.36192	1.922000	0.40045	2.537000	0.85549	0.462000	0.41574	GAG		0.577	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		11	205	11	205	---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245849237	245849237	+	Silent	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:245849237C>A	ENST00000407071.2	+	12	3392	c.2952C>A	c.(2950-2952)tcC>tcA	p.S984S	KIF26B_ENST00000366518.4_Silent_p.S603S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	984					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S984S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATAATGGGTCCGAAGGTCAGC	0.622																																						ENST00000366518.4																			2	Substitution - coding silent(2)	p.S984S(2)	prostate(2)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1807-1809)tcC>tcA		kinesin family member 26B							21.0	29.0	26.0					1																	245849237		2029	4180	6209	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849237C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2952C>A	1.37:g.245849237C>A			Somatic				KIF26B_ENST00000407071.2_Silent_p.S984S	p.S603S			WXS	Illumina GAIIx	Phase_I	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	1913	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		984			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.1809C>A	CCDS44342.1																																																																																				0.622	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	25	4	25	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80874842	80874843	+	Missense_Mutation	DNP	GT	GT	CA			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874842_80874843GT>CA	ENST00000402739.4	+	18	2712_2713	c.2707_2708GT>CA	c.(2707-2709)GTt>CAt	p.V903H	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V855H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855H	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAACTCACCTGTTGTGTCTTGG	0.47																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2563-2565)Gtt>Ctt|c.(2563-2565)gTt>gAt		catenin (cadherin-associated protein), alpha 2																																				SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874842G>C|g.chr2:80874843T>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	Exception_encountered	2.37:g.80874842_80874843delinsCA	ENSP00000384638:p.Val903His		Somatic				CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D	p.V855L|p.V855D			WXS	Illumina GAIIx	Phase_I	P26232	CTNA2_HUMAN			22	3287|3288	+			903					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2563G>C|c.2564T>A																																																																																					0.470	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		6	277|276	6	276	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136567431	136567431	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:136567431C>A	ENST00000264162.2	-	8	2496	c.2486G>T	c.(2485-2487)aGg>aTg	p.R829M	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	829	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCTGGGAGTCCTTGACTTGCT	0.493																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2485-2487)aGg>aTg		lactase							159.0	157.0	157.0					2																	136567431		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567431C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2486G>T	2.37:g.136567431C>A	ENSP00000264162:p.Arg829Met		Somatic					p.R829M	NM_002299.2	NP_002290.2	WXS	Illumina GAIIx	Phase_I	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2496	-			829			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2486G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590998	0.46214	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.74209	-0.82	5.78	4.89	0.63831	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045928	0.85682	D	0.000000	D	0.91580	0.7340	H	0.97829	4.085	0.52099	D	0.999943	D	0.89917	1.0	D	0.87578	0.998	D	0.94878	0.8036	10	0.87932	D	0	-26.0285	16.8396	0.85965	0.0:0.8714:0.1286:0.0	.	829	P09848	LPH_HUMAN	M	829;261	ENSP00000264162:R829M	ENSP00000264162:R829M	R	-	2	0	LCT	136283901	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.818000	0.86416	1.424000	0.47217	-0.302000	0.09304	AGG		0.493	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	302	5	302	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167262940	167262940	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:167262940T>C	ENST00000409855.1	-	25	4325	c.4199A>G	c.(4198-4200)tAt>tGt	p.Y1400C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1400					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Y1400C(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GGCAAAATTATACATTCCAAA	0.353																																						ENST00000409855.1																			3	Substitution - Missense(3)	p.Y1400C(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4198-4200)tAt>tGt		sodium channel, voltage-gated, type VII, alpha subunit							111.0	110.0	110.0					2																	167262940		1939	4169	6108	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262940T>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4199A>G	2.37:g.167262940T>C	ENSP00000386796:p.Tyr1400Cys		Somatic					p.Y1400C	NM_002976.3	NP_002967.2	WXS	Illumina GAIIx	Phase_I	Q01118	SCN7A_HUMAN			25	4325	-			1400						Missense_Mutation	SNP	ENST00000409855.1	37	c.4199A>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301791	0.60195	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98474	-4.95	4.99	3.75	0.43078	Ion transport (1);	0.237508	0.30227	N	0.010115	D	0.98143	0.9387	L	0.60455	1.87	0.38807	D	0.955337	D	0.89917	1.0	D	0.77557	0.99	D	0.98294	1.0515	10	0.87932	D	0	.	9.0105	0.36137	0.0:0.0:0.2874:0.7126	.	1400	Q01118	SCN7A_HUMAN	C	1400	ENSP00000386796:Y1400C	ENSP00000259060:Y1400C	Y	-	2	0	SCN7A	166971186	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.692000	0.68256	2.226000	0.72624	0.482000	0.46254	TAT		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			22	151	22	151	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179406214	179406214	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179406214T>A	ENST00000591111.1	-	300	92891	c.92667A>T	c.(92665-92667)caA>caT	p.Q30889H	TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q32530H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30889	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCAGTCACTTGGGAGCCAC	0.498																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(97588-97590)caA>caT		titin							109.0	104.0	105.0					2																	179406214		1957	4143	6100	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179406214T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92667A>T	2.37:g.179406214T>A	ENSP00000465570:p.Gln30889His		Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q30889H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.Q32530H	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		350	97814	-			30889			Ig-like 143.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.97590A>T		.	.	.	.	.	.	.	.	.	.	T	17.32	3.359547	0.61403	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.72	2.05	0.26809	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46190	0.1380	N	0.17594	0.5	0.32610	N	0.524803	D;D;D;D	0.56287	0.975;0.975;0.975;0.975	P;P;P;P	0.55011	0.766;0.766;0.766;0.766	T	0.56153	-0.8026	9	0.87932	D	0	.	7.5252	0.27652	0.0:0.4941:0.0:0.5059	.	23465;23590;23657;30889	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29962;23465;23657;23590;23462	ENSP00000343764:Q29962H;ENSP00000434586:Q23465H;ENSP00000340554:Q23657H;ENSP00000352154:Q23590H	ENSP00000340554:Q23657H	Q	-	3	2	TTN	179114460	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	0.191000	0.17076	0.436000	0.26393	0.459000	0.35465	CAA		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	30	11	30	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604912	179604912	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179604912C>G	ENST00000591111.1	-	46	12321	c.12097G>C	c.(12097-12099)Gtg>Ctg	p.V4033L	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000589042.1_Missense_Mutation_p.V4350L|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V4112L(1)|p.V3987L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGCATCACCACGTTGTCA	0.458																																						ENST00000589042.1																			2	Substitution - Missense(2)	p.V4112L(1)|p.V3987L(1)	prostate(2)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13048-13050)Gtg>Ctg		titin							94.0	92.0	93.0					2																	179604912		1890	4120	6010	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604912C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12097G>C	2.37:g.179604912C>G	ENSP00000465570:p.Val4033Leu		Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4033L|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA	p.V4350L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13272	-			4033			Ig-like 23.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13048G>C		.	.	.	.	.	.	.	.	.	.	C	3.334	-0.136143	0.06711	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59364	0.31;0.28;0.27	5.79	-1.04	0.10068	.	.	.	.	.	T	0.29850	0.0746	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.21109	-1.0255	9	0.87932	D	0	.	1.2778	0.02034	0.2664:0.3508:0.0954:0.2874	.	3987;4112;4179	D3DPF9;E7EQE6;E7ET18	.;.;.	L	3987;4179;4112;3987	ENSP00000434586:V3987L;ENSP00000340554:V4179L;ENSP00000352154:V4112L	ENSP00000340554:V4179L	V	-	1	0	TTN	179313157	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.766000	0.04725	0.069000	0.16605	0.563000	0.77884	GTG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	137	16	137	---	---	---	---
HDAC11	79885	broad.mit.edu	37	3	13542247	13542247	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:13542247C>T	ENST00000295757.3	+	6	630	c.447C>T	c.(445-447)ggC>ggT	p.G149G	HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000495099.2_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.A107V|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Silent_p.G98G	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	149	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)	p.G149G(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCGACCGTGGCGGGGGCTTCT	0.647											OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433119.1																			2	Substitution - coding silent(2)	p.G149G(2)	prostate(2)	breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(319-321)gCg>gTg		histone deacetylase 11							23.0	21.0	22.0					3																	13542247		2201	4299	6500	SO:0001819	synonymous_variant	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13542247C>T	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.447C>T	3.37:g.13542247C>T			Somatic	OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000495099.2_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000295757.3_Silent_p.G149G|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000402259.1_Intron	p.A107V			WXS	Illumina GAIIx	Phase_I	Q96DB2	HDA11_HUMAN			5	795	+			0			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.320C>T	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	C	2.585	-0.296505	0.05532	.	.	ENSG00000163517	ENST00000433119;ENST00000434848	.	.	.	4.52	-0.827	0.10802	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	7	0.87932	D	0	0.0072	3.9885	0.09527	0.2781:0.4555:0.0:0.2664	.	107	Q658J9	.	V	107;115	.	ENSP00000412514:A107V	A	+	2	0	HDAC11	13517247	0.000000	0.05858	0.996000	0.52242	0.874000	0.50279	-4.373000	0.00244	-0.007000	0.14345	-0.812000	0.03155	GCG		0.647	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		4	7	4	7	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38135139	38135139	+	Silent	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:38135139T>C	ENST00000308059.6	+	12	1821	c.1800T>C	c.(1798-1800)ggT>ggC	p.G600G	DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_Silent_p.G600G					deleted in lung and esophageal cancer 1									p.G600G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATATTTCTGGTGAAAAAAGCC	0.493																																						ENST00000308059.6																			2	Substitution - coding silent(2)	p.G600G(2)	prostate(2)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1798-1800)ggT>ggC		deleted in lung and esophageal cancer 1							112.0	111.0	111.0					3																	38135139		1917	4140	6057	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38135139T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1800T>C	3.37:g.38135139T>C			Somatic				DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_Silent_p.G600G	p.G600G			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	12	1821	+			600						Silent	SNP	ENST00000308059.6	37	c.1800T>C	CCDS2672.2																																																																																				0.493	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		28	93	28	93	---	---	---	---
PSMD6	9861	broad.mit.edu	37	3	63996409	63996409	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:63996409T>G	ENST00000295901.4	-	8	1245	c.1105A>C	c.(1105-1107)Act>Cct	p.T369P	PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6_ENST00000492933.1_Missense_Mutation_p.T422P|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P|RP11-245J9.5_ENST00000607115.1_lincRNA|PSMD6-AS2_ENST00000472046.1_RNA|RP11-245J9.4_ENST00000462717.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.T369P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TTCTTGATAGTTTCTTGGTAC	0.318																																						ENST00000492933.1																			1	Substitution - Missense(1)	p.T369P(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13						c.(1264-1266)Act>Cct		proteasome (prosome, macropain) 26S subunit, non-ATPase, 6							95.0	94.0	95.0					3																	63996409		2203	4296	6499	SO:0001583	missense	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:63996409T>G	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.1105A>C	3.37:g.63996409T>G	ENSP00000295901:p.Thr369Pro		Somatic				PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P|PSMD6_ENST00000295901.4_Missense_Mutation_p.T369P|PSMD6-AS2_ENST00000472046.1_RNA	p.T422P	NM_001271779.1	NP_001258708.1	WXS	Illumina GAIIx	Phase_I	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	9	1316	-		Lung NSC(201;0.136)	369					A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	c.1264A>C	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570686	0.86542	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510	.	.	.	5.74	5.74	0.90152	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.78801	2.425	0.80722	D	1	P;P;D;P	0.60575	0.902;0.819;0.988;0.919	P;P;P;P	0.59703	0.548;0.707;0.862;0.646	T	0.79834	-0.1636	9	0.59425	D	0.04	-28.7947	16.0357	0.80628	0.0:0.0:0.0:1.0	.	331;330;422;369	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	P	369;422;331;330	.	ENSP00000295901:T369P	T	-	1	0	PSMD6	63971449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.192000	0.70111	0.528000	0.53228	ACT		0.318	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814		12	84	12	84	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134911533	134911533	+	Silent	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:134911533G>C	ENST00000398015.3	+	11	2368	c.1998G>C	c.(1996-1998)ctG>ctC	p.L666L	EPHB1_ENST00000493838.1_Silent_p.L227L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGGACTTTCTGAGTGAGGCGA	0.547																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1996-1998)ctG>ctC		EPH receptor B1							97.0	100.0	99.0					3																	134911533		2198	4299	6497	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134911533G>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1998G>C	3.37:g.134911533G>C			Somatic				EPHB1_ENST00000493838.1_Silent_p.L227L	p.L666L	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			11	2368	+			666			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1998G>C	CCDS46921.1																																																																																				0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	49	4	49	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146058804	146058804	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr4:146058804C>A	ENST00000447906.2	-	21	3310	c.3123G>T	c.(3121-3123)caG>caT	p.Q1041H	OTUD4_ENST00000454497.2_Missense_Mutation_p.Q976H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1041					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.Q976H(1)|p.Q975H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GATTATAGAACTGCTTGGATC	0.413																																						ENST00000454497.2																			2	Substitution - Missense(2)	p.Q976H(1)|p.Q975H(1)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2926-2928)caG>caT		OTU domain containing 4							202.0	204.0	203.0					4																	146058804		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146058804C>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3123G>T	4.37:g.146058804C>A	ENSP00000395487:p.Gln1041His		Somatic				OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1041H|OTUD4_ENST00000455611.2_Intron	p.Q976H	NM_001102653.1	NP_001096123.1	WXS	Illumina GAIIx	Phase_I	Q01804	OTUD4_HUMAN			21	3065	-	all_hematologic(180;0.151)		1040					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2928G>T		.	.	.	.	.	.	.	.	.	.	C	13.15	2.149801	0.37923	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.35973	1.29;1.28	6.17	3.5	0.40072	.	0.257228	0.34245	N	0.004126	T	0.24699	0.0599	L	0.32530	0.975	0.80722	D	1	B;B	0.15141	0.012;0.007	B;B	0.14578	0.011;0.005	T	0.07481	-1.0770	10	0.72032	D	0.01	-6.607	5.1599	0.15056	0.2511:0.5536:0.0:0.1953	.	1041;1040	G3V0I6;Q01804	.;OTUD4_HUMAN	H	976;1041	ENSP00000409279:Q976H;ENSP00000395487:Q1041H	ENSP00000395487:Q1041H	Q	-	3	2	OTUD4	146278254	0.965000	0.33210	1.000000	0.80357	0.997000	0.91878	-0.094000	0.11094	0.457000	0.26962	0.655000	0.94253	CAG		0.413	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		47	384	47	384	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70751835	70751835	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:70751835C>A	ENST00000358731.4	+	1	394	c.131C>A	c.(130-132)gCt>gAt	p.A44D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	44	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACGGACTCTGCTTCCAAGCCC	0.642																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(130-132)gCt>gAt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							24.0	28.0	26.0					5																	70751835		1894	4115	6009	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70751835C>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.131C>A	5.37:g.70751835C>A	ENSP00000351575:p.Ala44Asp		Somatic				BDP1_ENST00000380675.2_5'UTR	p.A44D	NM_018429.2	NP_060899.2	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	1	394	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	44			Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.131C>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	7.562	0.664916	0.14710	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.23348	1.91	5.08	4.22	0.49857	.	0.843646	0.10548	N	0.661771	T	0.26919	0.0659	L	0.36672	1.1	0.31816	N	0.626586	P;B;B	0.47762	0.9;0.046;0.01	P;B;B	0.48141	0.568;0.032;0.006	T	0.09552	-1.0669	10	0.27082	T	0.32	.	9.6095	0.39654	0.0:0.9051:0.0:0.0949	.	44;44;44	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	D	44	ENSP00000351575:A44D	ENSP00000351575:A44D	A	+	2	0	BDP1	70787591	0.002000	0.14202	0.004000	0.12327	0.066000	0.16364	0.001000	0.13038	1.367000	0.46095	0.655000	0.94253	GCT		0.642	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		5	48	5	48	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152558076	152558076	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr6:152558076G>A	ENST00000367255.5	-	109	20676	c.20075C>T	c.(20074-20076)tCc>tTc	p.S6692F	SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6692					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S6692F(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAGATGGGACCACGTCTA	0.522										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.S6692F(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20074-20076)tCc>tTc		spectrin repeat containing, nuclear envelope 1							80.0	63.0	69.0					6																	152558076		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152558076G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20075C>T	6.37:g.152558076G>A	ENSP00000356224:p.Ser6692Phe	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F	p.S6692F	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	109	20676	-		Ovarian(120;0.0955)	6692					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20075C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732363	0.48939	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.48	5.48	0.80851	.	0.365577	0.24206	N	0.040571	T	0.35624	0.0938	L	0.59436	1.845	0.25065	N	0.991037	P;P;D	0.56035	0.911;0.911;0.974	P;P;P	0.57620	0.595;0.595;0.824	T	0.27536	-1.0071	10	0.62326	D	0.03	.	9.6301	0.39774	0.1609:0.0:0.8391:0.0	.	6692;6692;6621	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	F	6692;6621;6692;6621;6304;1216	ENSP00000356224:S6692F;ENSP00000396024:S6621F;ENSP00000265368:S6692F;ENSP00000390975:S6621F;ENSP00000341887:S6304F;ENSP00000349276:S1216F	ENSP00000265368:S6692F	S	-	2	0	SYNE1	152599769	1.000000	0.71417	0.761000	0.31378	0.356000	0.29392	3.863000	0.56016	2.567000	0.86603	0.655000	0.94253	TCC		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	70	6	70	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100348486	100348486	+	RNA	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr7:100348486C>A	ENST00000348028.3	+	0	1653				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V496V(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACACCTCCGTCACCGTCCCCT	0.642																																						ENST00000542585.1																			3	Substitution - coding silent(3)	p.V496V(3)	prostate(3)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							32.0	33.0	33.0					7																	100348486		1974	4140	6114			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348486C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348486C>A			Somatic				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1636	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.642	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	41	7	41	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814510	106814510	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr8:106814510C>T	ENST00000407775.2	+	8	2450	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	734					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAACCATGCGCACACGCAA	0.507																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2200-2202)Cgc>Tgc		zinc finger protein, FOG family member 2							50.0	49.0	50.0					8																	106814510		2097	4223	6320	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814510C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2200C>T	8.37:g.106814510C>T	ENSP00000384179:p.Arg734Cys		Somatic				RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000509144.2_RNA	p.R734C	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2450	+			734					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2200C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756593	0.69648	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.55052	0.54;1.12;1.12;2.35	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75065	-0.3449	10	0.72032	D	0.01	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	734	Q8WW38	FOG2_HUMAN	C	734;602;602;465	ENSP00000384179:R734C;ENSP00000430757:R602C;ENSP00000428720:R602C;ENSP00000367733:R465C	ENSP00000367733:R465C	R	+	1	0	ZFPM2	106883686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.244000	0.72391	2.708000	0.92522	0.561000	0.74099	CGC		0.507	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			4	63	4	63	---	---	---	---
CENPP	401541	broad.mit.edu	37	9	95108042	95108042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr9:95108042G>T	ENST00000375587.3	+	4	955	c.440G>T	c.(439-441)tGc>tTc	p.C147F		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	147					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.C147F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CCCACAGAATGCTCAGAATTA	0.289																																						ENST00000375587.3																			1	Substitution - Missense(1)	p.C147F(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(439-441)tGc>tTc		centromere protein P							62.0	63.0	62.0					9																	95108042		2203	4294	6497	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95108042G>T	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.440G>T	9.37:g.95108042G>T	ENSP00000364737:p.Cys147Phe		Somatic					p.C147F	NM_001012267.1	NP_001012267.1	WXS	Illumina GAIIx	Phase_I	Q6IPU0	CENPP_HUMAN			4	955	+			147					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.440G>T	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	G	2.138	-0.397496	0.04899	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	3.81	-0.437	0.12272	.	0.467813	0.19418	N	0.114778	T	0.21550	0.0519	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07947	-1.0746	9	0.10377	T	0.69	.	3.0063	0.06030	0.5173:0.0:0.1312:0.3515	.	147;106	Q6IPU0;Q7Z672	CENPP_HUMAN;.	F	147;106	.	ENSP00000364737:C147F	C	+	2	0	CENPP	94147863	0.998000	0.40836	0.923000	0.36655	0.923000	0.55619	1.300000	0.33436	-0.065000	0.13021	-0.291000	0.09656	TGC		0.289	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		16	56	16	56	---	---	---	---
MUS81	80198	broad.mit.edu	37	11	65630579	65630579	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:65630579G>T	ENST00000308110.4	+	7	998	c.649G>T	c.(649-651)Gcc>Tcc	p.A217S	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.A142S	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	217	Interaction with BLM.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCAGAAGTTGGCCGAGTCAGA	0.612								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(649-651)Gcc>Tcc	Homologous recombination	MUS81 structure-specific endonuclease subunit							50.0	52.0	51.0					11																	65630579		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65630579G>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.649G>T	11.37:g.65630579G>T	ENSP00000307853:p.Ala217Ser		Somatic				MUS81_ENST00000533035.1_Missense_Mutation_p.A142S	p.A217S	NM_025128.4	NP_079404.3	WXS	Illumina GAIIx	Phase_I	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	7	998	+			217			Interaction with BLM.		Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.649G>T	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.05|14.05	2.421091|2.421091	0.42918|0.42918	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374;ENST00000530111	T;T|.	0.14391|.	2.51;2.74|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.347323|.	0.32753|.	N|.	0.005683|.	T|T	0.56485|0.56485	0.1988|0.1988	L|L	0.60455|0.60455	1.87|1.87	0.25495|0.25495	N|N	0.98761|0.98761	B|.	0.33413|.	0.411|.	B|.	0.32393|.	0.145|.	T|T	0.50684|0.50684	-0.8799|-0.8799	10|5	0.12766|.	T|.	0.61|.	-7.7953|-7.7953	15.3232|15.3232	0.74139|0.74139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	217|.	Q96NY9|.	MUS81_HUMAN|.	S|V	142;217;217|141;112	ENSP00000432287:A142S;ENSP00000307853:A217S|.	ENSP00000307853:A217S|.	A|G	+|+	1|2	0|0	MUS81|MUS81	65387155|65387155	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.147000|0.147000	0.21601|0.21601	2.453000|2.453000	0.44970|0.44970	2.479000|2.479000	0.83701|0.83701	0.556000|0.556000	0.70494|0.70494	GCC|GGC		0.612	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		4	116	4	116	---	---	---	---
TSPAN9	10867	broad.mit.edu	37	12	3390977	3390977	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:3390977C>T	ENST00000011898.5	+	8	803	c.642C>T	c.(640-642)atC>atT	p.I214I	TSPAN9_ENST00000537971.1_Silent_p.I214I|TSPAN9_ENST00000407263.1_Silent_p.I214I	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	214						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)		p.I214I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCATCCTCATCATGCAGGTAA	0.587																																						ENST00000011898.5																			1	Substitution - coding silent(1)	p.I214I(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(640-642)atC>atT		tetraspanin 9							114.0	87.0	96.0					12																	3390977		2203	4300	6503	SO:0001819	synonymous_variant	10867					integral to plasma membrane|membrane fraction		g.chr12:3390977C>T	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.642C>T	12.37:g.3390977C>T			Somatic				TSPAN9_ENST00000407263.1_Silent_p.I214I|TSPAN9_ENST00000537971.1_Silent_p.I214I	p.I214I	NM_006675.4	NP_006666.1	WXS	Illumina GAIIx	Phase_I	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		8	803	+			214					D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	c.642C>T	CCDS8520.1																																																																																				0.587	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		16	24	16	24	---	---	---	---
TRAV18	28665	broad.mit.edu	37	14	22471681	22471681	+	RNA	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:22471681G>A	ENST00000390446.3	+	0	209									T cell receptor alpha variable 18																		CTCCCTGAGAGGGCAGCTCTG	0.453																																						ENST00000390446.3																			0																				85.0	87.0	86.0					14																	22471681		1910	4130	6040			28665							g.chr14:22471681G>A	AE000660		14q11.2	2012-02-07			ENSG00000211798	ENSG00000211798		"""T cell receptors / TRA locus"""	12114	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV18S1			OTTHUMG00000170644		14.37:g.22471681G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	209	+									RNA	SNP	ENST00000390446.3	37																																																																																						0.453	TRAV18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409892.1	NG_001332		9	134	9	134	---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61115426	61115426	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:61115426G>C	ENST00000247182.6	-	1	754	c.482C>G	c.(481-483)aCc>aGc	p.T161S	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	161					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GGTGAGGCCGGTGGCCTCGGC	0.647																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(481-483)aCc>aGc		SIX homeobox 1							42.0	41.0	42.0					14																	61115426		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115426G>C	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.482C>G	14.37:g.61115426G>C	ENSP00000247182:p.Thr161Ser		Somatic				SIX1_ENST00000554986.1_Intron	p.T161S	NM_005982.3	NP_005973.1	WXS	Illumina GAIIx	Phase_I	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	754	-			161					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.482C>G	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026201	0.93518	.	.	ENSG00000126778	ENST00000247182	D	0.96427	-4.01	5.97	5.07	0.68467	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	L	0.58302	1.8	0.80722	D	1	D	0.56287	0.975	P	0.61070	0.883	D	0.96895	0.9656	10	0.87932	D	0	-19.5079	14.2847	0.66238	0.0715:0.0:0.9285:0.0	.	161	Q15475	SIX1_HUMAN	S	161	ENSP00000247182:T161S	ENSP00000247182:T161S	T	-	2	0	SIX1	60185179	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.651000	0.98493	2.828000	0.97474	0.655000	0.94253	ACC		0.647	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			6	78	6	78	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64580250	64580250	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:64580250C>T	ENST00000344113.4	+	66	13013	c.12801C>T	c.(12799-12801)gaC>gaT	p.D4267D	SYNE2_ENST00000357395.3_Silent_p.D652D|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000554584.1_Silent_p.D4282D|SYNE2_ENST00000555002.1_Silent_p.D901D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Silent_p.D4267D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4267					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.D4267D(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAACGCAGACATGCAGCAGG	0.557																																						ENST00000357395.3																			1	Substitution - coding silent(1)	p.D4267D(1)	prostate(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(1954-1956)gaC>gaT		spectrin repeat containing, nuclear envelope 2							30.0	29.0	29.0					14																	64580250		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64580250C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12801C>T	14.37:g.64580250C>T			Somatic				ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.D901D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000344113.4_Silent_p.D4267D|SYNE2_ENST00000554584.1_Silent_p.D4282D	p.D652D			WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	67	13100	+			4267					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.1956C>T	CCDS41963.1																																																																																				0.557	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		11	19	11	19	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101718218	101718218	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr15:101718218G>T	ENST00000254190.3	-	3	2259	c.1784C>A	c.(1783-1785)cCt>cAt	p.P595H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	595					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGGCTTTAGGGTACTTAAT	0.458																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(1783-1785)cCt>cAt		chondroitin sulfate synthase 1							66.0	60.0	62.0					15																	101718218		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718218G>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1784C>A	15.37:g.101718218G>T	ENSP00000254190:p.Pro595His		Somatic				CHSY1_ENST00000543813.1_5'UTR	p.P595H	NM_014918.4	NP_055733.2	WXS	Illumina GAIIx	Phase_I	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	2259	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		595					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.1784C>A	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667910	0.67814	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.18502	2.21	5.8	5.8	0.92144	.	0.058186	0.64402	D	0.000001	T	0.47820	0.1466	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.44711	-0.9310	10	0.62326	D	0.03	-28.1413	20.063	0.97692	0.0:0.0:1.0:0.0	.	595	Q86X52	CHSS1_HUMAN	H	595;323	ENSP00000254190:P595H	ENSP00000254190:P595H	P	-	2	0	CHSY1	99535741	1.000000	0.71417	0.852000	0.33557	0.667000	0.39255	9.622000	0.98378	2.735000	0.93741	0.655000	0.94253	CCT		0.458	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		4	104	4	104	---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41956753	41956753	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr17:41956753T>C	ENST00000461854.1	-	13	1529	c.1444A>G	c.(1444-1446)Acg>Gcg	p.T482A	MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000269095.4_Missense_Mutation_p.T458A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	482	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AACTCGGCCGTTCGTAGCACC	0.572																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1372-1374)Acg>Gcg		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							102.0	91.0	94.0					17																	41956753		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41956753T>C		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1444A>G	17.37:g.41956753T>C	ENSP00000428286:p.Thr482Ala		Somatic				MPP2_ENST00000461854.1_Missense_Mutation_p.T482A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A	p.T458A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	WXS	Illumina GAIIx	Phase_I	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	12	1676	-		Breast(137;0.00314)	482			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1372A>G		.	.	.	.	.	.	.	.	.	.	t	22.2	4.258705	0.80246	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.83	4.83	0.62350	.	.	.	.	.	T	0.55561	0.1928	M	0.62723	1.935	0.80722	D	1	D;P	0.55385	0.971;0.891	P;P	0.57244	0.816;0.72	T	0.60296	-0.7291	9	0.87932	D	0	.	13.0433	0.58913	0.0:0.0:0.0:1.0	.	503;475	E7EV80;Q14168-3	.;.	A	475;458;482;319;447;447;503	ENSP00000366389:T475A;ENSP00000269095:T458A;ENSP00000428286:T482A;ENSP00000428136:T319A;ENSP00000430540:T447A;ENSP00000438012:T447A;ENSP00000428182:T503A	ENSP00000269095:T458A	T	-	1	0	MPP2	39312279	1.000000	0.71417	0.946000	0.38457	0.611000	0.37282	8.000000	0.88501	2.112000	0.64535	0.477000	0.44152	ACG		0.572	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		7	123	7	123	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9221994	9221994	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:9221994A>G	ENST00000262126.4	+	8	1180	c.940A>G	c.(940-942)Aca>Gca	p.T314A	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Missense_Mutation_p.T291A|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	314						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T314A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAAAGTTACACAGGTTTGTT	0.348																																						ENST00000262126.4																			1	Substitution - Missense(1)	p.T314A(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(940-942)Aca>Gca		ankyrin repeat domain 12							163.0	137.0	145.0					18																	9221994		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9221994A>G	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.940A>G	18.37:g.9221994A>G	ENSP00000262126:p.Thr314Ala		Somatic				ANKRD12_ENST00000383440.2_Missense_Mutation_p.T291A|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A	p.T314A	NM_015208.4	NP_056023.3	WXS	Illumina GAIIx	Phase_I	Q6UB98	ANR12_HUMAN			8	1180	+								O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.940A>G	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957942	0.34565	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T	0.67865	-0.29;-0.29	5.59	5.59	0.84812	.	0.062178	0.64402	D	0.000003	T	0.51787	0.1695	N	0.19112	0.55	0.39849	D	0.973213	B;P;B	0.37207	0.006;0.587;0.451	B;B;B	0.38156	0.003;0.266;0.137	T	0.59904	-0.7366	10	0.72032	D	0.01	-22.7857	9.3949	0.38397	0.7306:0.0:0.0:0.2694	.	314;291;314	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	A	291;291;314;314	ENSP00000372932:T291A;ENSP00000262126:T314A	ENSP00000262126:T314A	T	+	1	0	ANKRD12	9211994	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.439000	0.59968	2.128000	0.65567	0.459000	0.35465	ACA		0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		10	113	10	113	---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33836994	33836994	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:33836994A>T	ENST00000261326.5	+	12	2249	c.2228A>T	c.(2227-2229)aAc>aTc	p.N743I	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.N743I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGCTGATCAACACATCCAGT	0.453																																						ENST00000261326.5																			1	Substitution - Missense(1)	p.N743I(1)	prostate(1)	breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2227-2229)aAc>aTc		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						239.0	210.0	220.0					18																	33836994		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33836994A>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2228A>T	18.37:g.33836994A>T	ENSP00000261326:p.Asn743Ile		Somatic				MOCOS_ENST00000588132.1_3'UTR	p.N743I	NM_017947.2	NP_060417.2	WXS	Illumina GAIIx	Phase_I	Q96EN8	MOCOS_HUMAN			12	2249	+			743			MOSC.			Missense_Mutation	SNP	ENST00000261326.5	37	c.2228A>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442240	0.63067	.	.	ENSG00000075643	ENST00000261326	T	0.37411	1.2	5.01	5.01	0.66863	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.92459	3.31	0.32128	N	0.587155	D	0.89917	1.0	D	0.87578	0.998	T	0.78620	-0.2133	10	0.87932	D	0	-34.1826	11.4306	0.50038	1.0:0.0:0.0:0.0	.	743	Q96EN8	MOCOS_HUMAN	I	743	ENSP00000261326:N743I	ENSP00000261326:N743I	N	+	2	0	MOCOS	32090992	1.000000	0.71417	0.951000	0.38953	0.653000	0.38743	6.202000	0.72131	2.035000	0.60131	0.533000	0.62120	AAC		0.453	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			57	179	57	179	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41062020	41062020	+	Silent	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr19:41062020G>A	ENST00000352632.3	+	25	5201	c.5115G>A	c.(5113-5115)gtG>gtA	p.V1705V	SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V|SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000595535.1_Silent_p.V1705V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1705					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V1705V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTCAGGTGGACCGCCTGT	0.662																																						ENST00000352632.3																			1	Substitution - coding silent(1)	p.V1705V(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5113-5115)gtG>gtA		spectrin, beta, non-erythrocytic 4							28.0	28.0	28.0					19																	41062020		2202	4300	6502	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41062020G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5115G>A	19.37:g.41062020G>A			Somatic				SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000595535.1_Silent_p.V1705V|SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V	p.V1705V			WXS	Illumina GAIIx	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		25	5201	+			1705					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.5115G>A	CCDS12559.1																																																																																				0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	53	6	53	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37586800	37586800	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:37586800G>A	ENST00000399151.3	+	9	1160	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	RN7SL73P_ENST00000585239.1_RNA	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	359					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.A359T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACGCCATCATGCATACCTGAA	0.393																																						ENST00000399151.3																			1	Substitution - Missense(1)	p.A359T(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1075-1077)Gca>Aca		dopey family member 2							139.0	115.0	123.0					21																	37586800		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37586800G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1075G>A	21.37:g.37586800G>A	ENSP00000382104:p.Ala359Thr		Somatic					p.A359T	NM_005128.2	NP_005119.2	WXS	Illumina GAIIx	Phase_I	Q9Y3R5	DOP2_HUMAN			9	1160	+			359					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.1075G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	8.834	0.940588	0.18281	.	.	ENSG00000142197	ENST00000399151	T	0.11712	2.75	5.57	1.82	0.25136	.	0.385076	0.29066	N	0.013242	T	0.10551	0.0258	L	0.57536	1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.36962	-0.9726	10	0.16896	T	0.51	.	10.3765	0.44085	0.2635:0.0:0.7365:0.0	.	359;359	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	T	359	ENSP00000382104:A359T	ENSP00000382104:A359T	A	+	1	0	DOPEY2	36508670	0.037000	0.19845	0.000000	0.03702	0.225000	0.24961	1.939000	0.40213	0.062000	0.16340	-0.137000	0.14449	GCA		0.393	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		9	70	9	70	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54359994	54359994	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:54359994C>T	ENST00000375159.2	-	1	112	c.113G>A	c.(112-114)aGa>aAa	p.R38K	WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000354646.2_Missense_Mutation_p.R38K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	38					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R38K(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTCCTTTAGTCTAGCTTCTAC	0.428																																						ENST00000354646.2																			2	Substitution - Missense(2)	p.R38K(2)	prostate(2)	autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(112-114)aGa>aAa		WNK lysine deficient protein kinase 3							77.0	72.0	74.0					X																	54359994		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54359994C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.113G>A	X.37:g.54359994C>T	ENSP00000364301:p.Arg38Lys		Somatic				WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000375159.2_Missense_Mutation_p.R38K	p.R38K	NM_020922.4	NP_065973.2	WXS	Illumina GAIIx	Phase_I	Q9BYP7	WNK3_HUMAN			2	551	-			38					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.113G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	2.202	-0.382751	0.04966	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159;ENST00000458404	T;T;T	0.69435	-0.39;-0.4;-0.4	5.42	-1.81	0.07882	.	0.560875	0.17260	N	0.180839	T	0.39733	0.1089	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.002	T	0.10613	-1.0622	10	0.30854	T	0.27	-3.014	2.5823	0.04821	0.1185:0.4056:0.115:0.3609	.	38;38	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	38	ENSP00000364312:R38K;ENSP00000346667:R38K;ENSP00000364301:R38K	ENSP00000346667:R38K	R	-	2	0	WNK3	54376719	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.320000	0.08028	-0.104000	0.12154	0.544000	0.68410	AGA		0.428	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		8	125	8	125	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131219961	131219961	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:131219961G>A	ENST00000298542.4	-	6	659	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.H162Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGATGAAAGTGCATG	0.443																																						ENST00000298542.4																			1	Substitution - Missense(1)	p.H162Y(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(484-486)Cat>Tat		FERM domain containing 7							298.0	232.0	254.0					X																	131219961		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131219961G>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.484C>T	X.37:g.131219961G>A	ENSP00000298542:p.His162Tyr		Somatic				FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y	p.H162Y	NM_194277.2	NP_919253.1	WXS	Illumina GAIIx	Phase_I	Q6ZUT3	FRMD7_HUMAN			6	659	-	Acute lymphoblastic leukemia(192;0.000127)		162			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.484C>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991701	0.54041	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	T;T;T	0.77358	-1.09;-1.09;-1.09	5.71	5.71	0.89125	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.047688	0.85682	D	0.000000	T	0.71634	0.3363	L	0.41027	1.25	0.80722	D	1	B;P	0.42375	0.347;0.778	B;B	0.42245	0.085;0.381	T	0.74731	-0.3566	10	0.62326	D	0.03	.	11.2684	0.49124	0.0846:0.0:0.9154:0.0	.	147;162	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	Y	42;162;147	ENSP00000359916:H42Y;ENSP00000298542:H162Y;ENSP00000417996:H147Y	ENSP00000298542:H162Y	H	-	1	0	FRMD7	131047642	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.446000	0.73460	2.407000	0.81776	0.600000	0.82982	CAT		0.443	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		73	88	73	88	---	---	---	---
F8	2157	broad.mit.edu	37	X	154225299	154225299	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:154225299G>T	ENST00000360256.4	-	3	537	c.337C>A	c.(337-339)Cat>Aat	p.H113N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	113	F5/8 type A 1.|Plastocyanin-like 1.		H -> R (in HEMA; mild). {ECO:0000269|PubMed:7579394}.|H -> Y (in HEMA). {ECO:0000269|PubMed:10404764}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGACAGGATGGGAAGCCATG	0.443																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM990528	F8	M		c.(337-339)Cat>Aat		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						252.0	210.0	224.0					X																	154225299		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154225299G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.337C>A	X.37:g.154225299G>T	ENSP00000353393:p.His113Asn		Somatic					p.H113N	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			3	537	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		113		H -> R (in HEMA; mild).|H -> Y (in HEMA).	F5/8 type A 1.|Plastocyanin-like 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.337C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354272	0.61293	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99399	-5.83;-5.83;-5.83	5.03	5.03	0.67393	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.348573	0.34291	N	0.004091	D	0.99036	0.9670	L	0.41710	1.295	0.28186	N	0.927965	P;D	0.71674	0.803;0.998	P;D	0.71656	0.58;0.974	D	0.96565	0.9418	10	0.66056	D	0.02	-20.0835	12.8452	0.57825	0.0:0.0:1.0:0.0	.	78;113	B1B0G8;P00451	.;FA8_HUMAN	N	113;78;107	ENSP00000353393:H113N;ENSP00000409446:H78N;ENSP00000389153:H107N	ENSP00000353393:H113N	H	-	1	0	F8	153878493	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.924000	0.63418	2.087000	0.62958	0.436000	0.28706	CAT		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	178	5	178	---	---	---	---
HEXB	3074	broad.mit.edu	37	5	74016258	74016259	+	In_Frame_Ins	INS	-	-	AGA			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:74016258_74016259insAGA	ENST00000261416.7	+	12	1540_1541	c.1423_1424insAGA	c.(1423-1425)cag>cAGAag	p.476_477insK	GFM2_ENST00000515125.1_5'Flank|HEXB_ENST00000511181.1_In_Frame_Ins_p.251_252insK|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	476					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTTAGGTACTCAGAAACAGAAA	0.361																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000511181.1																			0				endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(748-750)cag>cAGAag		hexosaminidase B (beta polypeptide)																																				SO:0001652	inframe_insertion	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:74016258_74016259insAGA	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1424_1426dupAGA	5.37:g.74016259_74016261dupAGA	ENSP00000261416:p.Lys477_Lys478dup		Somatic				HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000261416.7_In_Frame_Ins_p.476_477insK|HEXB_ENST00000513539.1_3'UTR	p.251_252insK			WXS	Illumina GAIIx	Phase_I	P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	12	1660_1661	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	476						In_Frame_Ins	INS	ENST00000261416.7	37	c.748_749insAGA	CCDS4022.1																																																																																				0.361	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		20	74	20	74	---	---	---	---
