#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF791	163049	broad.mit.edu	37	19	12739914	12739914	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:12739914A>G	ENST00000343325.4	+	4	1733	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	ZNF791_ENST00000540038.1_Missense_Mutation_p.Y415C|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.Y492C|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAGAAACCCTATAAATGTAAA	0.388																																						uc002mua.2																			0		p.P523P(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(1570-1572)tAt>tGt		Homo sapiens zinc finger protein 791 (ZNF791), mRNA.							85.0	89.0	87.0					19																	12739914		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739914A>G	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1571A>G	19.37:g.12739914A>G	ENSP00000342974:p.Tyr524Cys		Somatic				ZNF791_uc010xml.1_Missense_Mutation_p.Y492C|ZNF791_uc010dyu.1_Missense_Mutation_p.Y415C|ZNF791_uc010xmm.1_Missense_Mutation_p.Y415C	p.Y524C	NM_153358	NP_699189	WXS	Illumina GAIIx	Phase_I	Q3KP31	ZN791_HUMAN			3	1733	+			524					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.1571A>G	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806439	0.31961	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.69306	-0.39;-0.39;1.8	1.89	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78046	0.4222	M	0.81682	2.555	0.19300	N	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.63301	-0.6668	9	0.72032	D	0.01	.	4.0738	0.09894	0.6846:0.0:0.0:0.3154	.	524	Q3KP31	ZN791_HUMAN	C	524;492;415	ENSP00000342974:Y524C;ENSP00000441761:Y492C;ENSP00000441038:Y415C	ENSP00000342974:Y524C	Y	+	2	0	ZNF791	12600914	0.023000	0.18921	0.038000	0.18304	0.967000	0.64934	0.622000	0.24433	0.868000	0.35678	0.402000	0.26972	TAT		0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		9	99	0	0	0	1	0	9	99				
PTPRJ	5795	broad.mit.edu	37	11	48146708	48146708	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:48146708G>C	ENST00000418331.2	+	6	1415	c.1063G>C	c.(1063-1065)Gga>Cga	p.G355R	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G355R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	355	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGCACAGAAGGACAGCCCCA	0.532																																						uc001ngp.4																			0		p.E354*(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1063-1065)Gga>Cga		Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.							77.0	85.0	82.0					11																	48146708		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48146708G>C	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1063G>C	11.37:g.48146708G>C	ENSP00000400010:p.Gly355Arg		Somatic				PTPRJ_uc001ngo.4_Missense_Mutation_p.G355R	p.G355R	NM_002843	NP_002834	WXS	Illumina GAIIx	Phase_I	Q12913	PTPRJ_HUMAN			5	1418	+			355			Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1063G>C	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297048	0.60086	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.06449	3.3;3.3	5.38	4.48	0.54585	Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19167	0.0460	L	0.59436	1.845	0.38401	D	0.945676	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01081	-1.1458	9	0.72032	D	0.01	.	10.0445	0.42177	0.0925:0.0:0.9075:0.0	.	355;355	Q12913;Q6P4H4	PTPRJ_HUMAN;.	R	355	ENSP00000400010:G355R;ENSP00000409733:G355R	ENSP00000278456:G355R	G	+	1	0	PTPRJ	48103284	1.000000	0.71417	0.132000	0.22025	0.003000	0.03518	4.489000	0.60309	1.271000	0.44313	-0.251000	0.11542	GGA		0.532	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			14	79	0	0	0	1	0	14	79				
CCDC180	100499483	broad.mit.edu	37	9	100092841	100092841	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr9:100092841C>G	ENST00000357054.1	+	32	3550	c.2615C>G	c.(2614-2616)tCt>tGt	p.S872C	CCDC180_ENST00000411667.2_Missense_Mutation_p.S730C|CCDC180_ENST00000529487.1_Missense_Mutation_p.S733C|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.S733C|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	872	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AAAGAAGGCTCTATTCAGGGA	0.463																																						uc011lut.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						c.(2614-2616)tCt>tGt		Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.							71.0	68.0	69.0					9																	100092841		2203	4300	6503	SO:0001583	missense	100499483					integral to membrane		g.chr9:100092841C>G	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2615C>G	9.37:g.100092841C>G	ENSP00000349562:p.Ser872Cys		Somatic				C9orf174_uc004axe.2_Missense_Mutation_p.S872C|C9orf174_uc011lus.2_Missense_Mutation_p.S690C|C9orf174_uc004axg.2_Missense_Mutation_p.S733C|C9orf174_uc004axh.2_Non-coding_Transcript|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.S733C|C9orf174_uc011luv.1_Missense_Mutation_p.S730C	p.S872C	NM_020893	NP_065944	WXS	Illumina GAIIx	Phase_I	Q9P1Z9	CI174_HUMAN			31	3621	+			872			Glu-rich.		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.2615C>G		.	.	.	.	.	.	.	.	.	.	C	18.06	3.539798	0.65085	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.14144	2.88;2.92;2.53;2.92	5.08	5.08	0.68730	.	0.569160	0.16108	N	0.229225	T	0.32615	0.0835	L	0.56769	1.78	0.09310	N	0.999997	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.72075	0.967;0.976;0.943;0.976;0.967	T	0.05649	-1.0872	10	0.34782	T	0.22	-2.1053	14.7046	0.69179	0.0:1.0:0.0:0.0	.	756;730;872;733;872	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	C	872;733;730;756;733	ENSP00000349562:S872C;ENSP00000364348:S733C;ENSP00000414000:S730C;ENSP00000434727:S733C	ENSP00000349562:S872C	S	+	2	0	C9orf174	99132662	0.000000	0.05858	0.079000	0.20413	0.781000	0.44180	0.305000	0.19254	2.751000	0.94390	0.555000	0.69702	TCT		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		13	27	0	0	0	1	0	13	27				
LBH	81606	broad.mit.edu	37	2	30457303	30457303	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr2:30457303A>G	ENST00000395323.3	+	2	267	c.59A>G	c.(58-60)gAg>gGg	p.E20G	LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Missense_Mutation_p.E20G|LBH_ENST00000401506.1_Missense_Mutation_p.E26G|LBH_ENST00000407930.2_Missense_Mutation_p.E3G|LBH_ENST00000406087.1_Missense_Mutation_p.E20G	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	20					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AAGATGACTGAGGTGATGATG	0.537																																						uc002rne.2																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(58-60)gAg>gGg		Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.							146.0	122.0	130.0					2																	30457303		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30457303A>G	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.59A>G	2.37:g.30457303A>G	ENSP00000378733:p.Glu20Gly		Somatic					p.E20G	NM_030915	NP_112177	WXS	Illumina GAIIx	Phase_I	Q53QV2	LBH_HUMAN			1	267	+	Acute lymphoblastic leukemia(172;0.155)		20					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.59A>G	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.042058	0.75732	.	.	ENSG00000213626	ENST00000395323;ENST00000406087;ENST00000404397;ENST00000401506;ENST00000407930	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.66939	2.045	0.50171	D	0.999854	D	0.63880	0.993	D	0.63033	0.91	T	0.73833	-0.3858	9	0.87932	D	0	-20.5435	11.7103	0.51620	1.0:0.0:0.0:0.0	.	20	Q53QV2	LBH_HUMAN	G	20;20;20;26;3	.	ENSP00000378733:E20G	E	+	2	0	LBH	30310807	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.723000	0.74742	1.649000	0.50652	0.374000	0.22700	GAG		0.537	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		3	164	0	0	0	1	0	3	164				
SREBF2	6721	broad.mit.edu	37	22	42262982	42262982	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr22:42262982G>A	ENST00000361204.4	+	2	402	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	79	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcaggggcagcagcagcGGA	0.602																																						uc003bbi.3																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(235-237)aGc>aAc		Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.							83.0	72.0	76.0					22																	42262982		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding	g.chr22:42262982G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.236G>A	22.37:g.42262982G>A	ENSP00000354476:p.Ser79Asn		Somatic				bK250D10.C22.8_uc003bba.1_Intron	p.S79N	NM_004599	NP_004590	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			1	405	+			79			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.236G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	7.763	0.705838	0.15172	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55052	0.54	4.02	-2.35	0.06684	.	0.324019	0.30455	N	0.009597	T	0.24160	0.0585	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09862	-1.0655	10	0.36615	T	0.2	-0.0544	6.3177	0.21200	0.2149:0.3894:0.3957:0.0	.	79	Q12772	SRBP2_HUMAN	N	79	ENSP00000354476:S79N	ENSP00000354476:S79N	S	+	2	0	SREBF2	40592928	0.216000	0.23585	0.001000	0.08648	0.451000	0.32288	0.551000	0.23361	-0.159000	0.11021	0.561000	0.74099	AGC		0.602	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		3	88	0	0	0	1	0	3	88				
VTA1	51534	broad.mit.edu	37	6	142468447	142468447	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:142468447C>A	ENST00000367630.4	+	1	81	c.23C>A	c.(22-24)cCc>cAc	p.P8H	VTA1_ENST00000452973.2_5'UTR|VTA1_ENST00000367621.1_5'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	8	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GCACCGCTGCCCCCGCTCCCC	0.612											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003qiw.3																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(22-24)cCc>cAc		Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.							78.0	72.0	74.0					6																	142468447		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142468447C>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.23C>A	6.37:g.142468447C>A	ENSP00000356602:p.Pro8His		Somatic	OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1671	VTA1_uc011edu.2_5'UTR	p.P8H	NM_016485	NP_057569	WXS	Illumina GAIIx	Phase_I	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	0	38	+	Breast(32;0.155)		8			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.23C>A	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859472	0.51376	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.53423	0.62	5.78	5.78	0.91487	.	0.106321	0.64402	D	0.000004	T	0.64505	0.2604	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66838	-0.5822	10	0.72032	D	0.01	-11.0547	16.9276	0.86180	0.0:1.0:0.0:0.0	.	8	Q9NP79	VTA1_HUMAN	H	8;9	ENSP00000356602:P8H	ENSP00000356602:P8H	P	+	2	0	VTA1	142510140	0.997000	0.39634	0.999000	0.59377	0.366000	0.29705	4.660000	0.61511	2.738000	0.93877	0.591000	0.81541	CCC		0.612	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		4	88	0	0	0	1	0	4	88				
MAPK8IP2	23542	broad.mit.edu	37	22	51044095	51044095	+	Silent	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr22:51044095G>A	ENST00000399908.2	+	5	1865	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	MAPK8IP2_ENST00000329492.3_Silent_p.T648T|MAPK8IP2_ENST00000442429.2_Silent_p.T371T|MAPK8IP2_ENST00000341339.4_Silent_p.T269T|MAPK8IP2_ENST00000008876.5_Silent_p.T354T|MAPK8IP2_ENST00000399912.1_Silent_p.T383T	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	649	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACATGCGCACGGGGGAGCGCG	0.652																																						uc003bmx.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1942-1944)acG>acA		Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.							37.0	46.0	43.0					22																	51044095		2132	4242	6374	SO:0001819	synonymous_variant	23542				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding	g.chr22:51044095G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1149G>A	22.37:g.51044095G>A			Somatic				MAPK8IP2_uc003bmy.3_Silent_p.T621T|MAPK8IP2_uc011asc.2_Silent_p.T3T	p.T648T	NM_012324	NP_036456	WXS	Illumina GAIIx	Phase_I	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	2061	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	649			SH3.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Silent	SNP	ENST00000399908.2	37	c.1944G>A																																																																																					0.652	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		3	58	0	0	0	1	0	3	58				
TTC3	7267	broad.mit.edu	37	21	38536445	38536445	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr21:38536445G>A	ENST00000399017.2	+	32	6010	c.3263G>A	c.(3262-3264)aGt>aAt	p.S1088N	TTC3_ENST00000355666.1_Missense_Mutation_p.S1088N|TTC3_ENST00000354749.2_Missense_Mutation_p.S1088N|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1088					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GACCAACACAGTAACGAATAT	0.398																																					Ovarian(38;194 1649 35661)	uc002yvz.3																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3262-3264)aGt>aAt		Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.							101.0	92.0	95.0					21																	38536445		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38536445G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3263G>A	21.37:g.38536445G>A	ENSP00000381981:p.Ser1088Asn		Somatic				TTC3_uc011aee.1_Missense_Mutation_p.S778N|TTC3_uc002ywa.3_Missense_Mutation_p.S1088N|TTC3_uc002ywb.3_Missense_Mutation_p.S1088N|TTC3_uc010gnf.3_Missense_Mutation_p.S853N|TTC3_uc002ywc.3_Missense_Mutation_p.S778N|TTC3_uc002ywd.1_Missense_Mutation_p.S152N	p.S1088N	NM_001001894	NP_003307	WXS	Illumina GAIIx	Phase_I	P53804	TTC3_HUMAN			31	3368	+		Myeloproliferative disorder(46;0.0412)	1088					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3263G>A	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.849998|1.849998	0.32699|0.32699	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.14893|.	2.47;2.47;2.8;2.8;2.8|.	4.76|4.76	-0.722|-0.722	0.11184|0.11184	.|.	0.376195|.	0.25258|.	N|.	0.031976|.	T|T	0.39118|0.39118	0.1066|0.1066	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999999|0.999999	P;P|.	0.47910|.	0.902;0.842|.	B;B|.	0.43301|.	0.415;0.236|.	T|T	0.37663|0.37663	-0.9696|-0.9696	10|5	0.22706|.	T|.	0.39|.	-2.1146|-2.1146	2.6162|2.6162	0.04905|0.04905	0.111:0.1392:0.465:0.2848|0.111:0.1392:0.465:0.2848	.|.	146;1088|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	N|I	1088;1070;1088;1088;1088|244	ENSP00000403943:S1088N;ENSP00000391891:S1070N;ENSP00000347889:S1088N;ENSP00000381981:S1088N;ENSP00000346791:S1088N|.	ENSP00000346791:S1088N|.	S|V	+|+	2|1	0|0	TTC3|TTC3	37458315|37458315	0.000000|0.000000	0.05858|0.05858	0.019000|0.019000	0.16419|0.16419	0.859000|0.859000	0.49053|0.49053	-0.240000|-0.240000	0.08952|0.08952	0.050000|0.050000	0.15949|0.15949	0.591000|0.591000	0.81541|0.81541	AGT|GTA		0.398	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			3	93	0	0	0	1	0	3	93				
TMEM38A	79041	broad.mit.edu	37	19	16799119	16799119	+	Silent	SNP	C	C	T	rs540893827		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:16799119C>T	ENST00000187762.2	+	6	928	c.837C>T	c.(835-837)ccC>ccT	p.P279P		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	279						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CGGCCATGCCCGCCAAGTCCA	0.657													.|||	1	0.000199681	0.0	0.0	5008	,	,		16934	0.0		0.0	False		,,,				2504	0.001					uc002nes.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(835-837)ccC>ccT		Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.							53.0	56.0	55.0					19																	16799119		2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799119C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.837C>T	19.37:g.16799119C>T			Somatic					p.P279P	NM_024074	NP_076979	WXS	Illumina GAIIx	Phase_I	Q9H6F2	TM38A_HUMAN			5	928	+			279					A8K9P9	Silent	SNP	ENST00000187762.2	37	c.837C>T	CCDS12349.1																																																																																				0.657	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		25	75	0	0	0	1	0	25	75				
IMPG1	3617	broad.mit.edu	37	6	76751728	76751728	+	Silent	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:76751728G>A	ENST00000369950.3	-	2	372	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.F61F(2)|p.F61L(2)	lung(1)|endometrium(1)	breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(181-183)ttC>ttT		Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.							184.0	173.0	177.0					6																	76751728		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751728G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.183C>T	6.37:g.76751728G>A			Somatic					p.F61F	NM_001563	NP_001554	WXS	Illumina GAIIx	Phase_I	Q17R60	IMPG1_HUMAN			1	313	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	61						Silent	SNP	ENST00000369950.3	37	c.183C>T	CCDS4985.1																																																																																				0.368	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		20	134	0	0	0	1	0	20	134				
ATG101	60673	broad.mit.edu	37	12	52470924	52470924	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr12:52470924T>C	ENST00000336854.4	+	4	1085	c.607T>C	c.(607-609)Tca>Cca	p.S203P	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		203					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CCTGGGCACCTCAGTCACCAC	0.577																																						uc001rzu.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(607-609)Tca>Cca		Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA.							90.0	85.0	87.0					12																	52470924		2203	4300	6503	SO:0001583	missense	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470924T>C																												ENST00000336854.4:c.607T>C	12.37:g.52470924T>C	ENSP00000338990:p.Ser203Pro		Somatic				C12orf44_uc009zmd.3_Missense_Mutation_p.S203P|bpl_41-16_uc009zme.2_5'Flank	p.S203P	NM_021934	NP_068753	WXS	Illumina GAIIx	Phase_I	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	3	1082	+			203					Q9HAE2|Q9HBN1	Missense_Mutation	SNP	ENST00000336854.4	37	c.607T>C	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723151	0.89298	.	.	ENSG00000123395	ENST00000336854;ENST00000550984	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	P	0.57101	0.813	T	0.68089	-0.5501	9	0.59425	D	0.04	-12.5173	13.7571	0.62943	0.0:0.0:0.0:1.0	.	203	Q9BSB4	ATGA1_HUMAN	P	203	.	ENSP00000338990:S203P	S	+	1	0	C12orf44	50757191	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	7.401000	0.79962	2.145000	0.66743	0.533000	0.62120	TCA		0.577	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			3	99	0	0	0	1	0	3	99				
COL20A1	57642	broad.mit.edu	37	20	61951642	61951642	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:61951642G>A	ENST00000358894.6	+	25	3175		c.e25-1		COL20A1_ENST00000422202.1_Splice_Site|COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCGTTGCAGTTTCAGCTCC	0.701																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.e25-1		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							41.0	45.0	44.0					20																	61951642		2058	4204	6262	SO:0001630	splice_region_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61951642G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3076-1G>A	20.37:g.61951642G>A			Somatic				COL20A1_uc011aav.2_Splice_Site_p.F847_splice	p.F1026_splice	NM_020882	NP_065933	WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			25	3176	+	all_cancers(38;1.39e-10)		1026			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Splice_Site	SNP	ENST00000358894.6	37	c.3076_splice	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.318909	0.10845	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1745	0.48590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL20A1	61422087	1.000000	0.71417	0.911000	0.35937	0.026000	0.11368	4.984000	0.63838	1.889000	0.54706	0.462000	0.41574	.		0.701	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	Intron	3	98	0	0	0	1	0	3	98				
NLRC4	58484	broad.mit.edu	37	2	32475708	32475708	+	Nonsense_Mutation	SNP	C	C	A	rs144123569		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr2:32475708C>A	ENST00000404025.2	-	5	1713	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E409*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E409*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.E409K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTGCAGTTCGAAATCAAAC	0.473																																						uc002roi.3																			2	Substitution - Missense(2)	p.E409K(2)	large_intestine(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1225-1227)Gaa>Taa		Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.							55.0	57.0	57.0					2																	32475708		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475708C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1225G>T	2.37:g.32475708C>A	ENSP00000385090:p.Glu409*		Somatic				NLRC4_uc021vfq.1_Nonsense_Mutation_p.E409*|NLRC4_uc002roj.2_Nonsense_Mutation_p.E409*|NLRC4_uc010ezt.2_Intron	p.E409*	NM_001199138	NP_001186067	WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			3	1486	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		409			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.1225G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519843	0.44866	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	2.97	-1.66	0.08265	.	1.102920	0.07138	N	0.846839	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.1007	0.20045	0.0:0.3531:0.3734:0.2735	.	.	.	.	X	409	.	ENSP00000354159:E409X	E	-	1	0	NLRC4	32329212	0.030000	0.19436	0.003000	0.11579	0.006000	0.05464	-0.681000	0.05191	-0.970000	0.03569	-2.441000	0.00211	GAA		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		3	37	0	0	0	1	0	3	37				
ZNF335	63925	broad.mit.edu	37	20	44581287	44581287	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:44581287C>T	ENST00000322927.2	-	19	2864	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	ZNF335_ENST00000426788.1_Missense_Mutation_p.G767S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	922					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TAGTGGGTGCCAGCTTCTTTT	0.587																																						uc002xqw.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2764-2766)Ggc>Agc		Homo sapiens zinc finger protein 335 (ZNF335), mRNA.							169.0	135.0	147.0					20																	44581287		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44581287C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2764G>A	20.37:g.44581287C>T	ENSP00000325326:p.Gly922Ser		Somatic				ZNF335_uc002xqv.3_Missense_Mutation_p.G34S|ZNF335_uc010zxk.2_Missense_Mutation_p.G767S	p.G922S	NM_022095	NP_071378	WXS	Illumina GAIIx	Phase_I	Q9H4Z2	ZN335_HUMAN			18	2887	-		Myeloproliferative disorder(115;0.0122)	922					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2764G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177569	0.38413	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.07800	3.29;3.16	4.77	2.65	0.31530	.	0.400925	0.26571	N	0.023627	T	0.03651	0.0104	N	0.08118	0	0.28179	N	0.928265	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.001	T	0.32824	-0.9892	10	0.30854	T	0.27	-24.7235	5.0925	0.14715	0.0:0.6878:0.0:0.3122	.	767;922	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	S	922;699;767	ENSP00000325326:G922S;ENSP00000397098:G767S	ENSP00000243961:G699S	G	-	1	0	ZNF335	44014694	0.182000	0.23173	0.990000	0.47175	0.936000	0.57629	0.571000	0.23669	1.198000	0.43158	0.555000	0.69702	GGC		0.587	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		53	166	0	0	0	1	0	53	166				
IL12RB2	3595	broad.mit.edu	37	1	67833673	67833673	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr1:67833673G>A	ENST00000262345.1	+	10	2064	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	IL12RB2_ENST00000541374.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000544434.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R475Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	475	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AACTGGCTACGGAGTCGACCC	0.507																																						uc001ddu.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(1423-1425)cGg>cAg		Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.							152.0	134.0	140.0					1																	67833673		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67833673G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1424G>A	1.37:g.67833673G>A	ENSP00000262345:p.Arg475Gln		Somatic				IL12RB2_uc010oqi.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqj.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqm.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqn.2_Non-coding_Transcript	p.R475Q	NM_001559	NP_001550	WXS	Illumina GAIIx	Phase_I	Q99665	I12R2_HUMAN			9	2064	+			475			Fibronectin type-III 4.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.1424G>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289070	0.59976	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.56941	0.43;0.43;0.43;1.71	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.298342	0.35525	N	0.003153	T	0.61009	0.2313	M	0.71206	2.165	0.30282	N	0.791213	D;D;D;D	0.89917	0.984;1.0;1.0;1.0	P;D;D;D	0.69824	0.788;0.963;0.966;0.934	T	0.58629	-0.7603	10	0.48119	T	0.1	-8.8914	13.709	0.62656	0.0:0.0:1.0:0.0	.	475;475;475;475	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	Q	475	ENSP00000262345:R475Q;ENSP00000360039:R475Q;ENSP00000445276:R475Q;ENSP00000442443:R475Q	ENSP00000262345:R475Q	R	+	2	0	IL12RB2	67606261	0.880000	0.30214	0.472000	0.27241	0.162000	0.22319	2.984000	0.49353	2.607000	0.88179	0.655000	0.94253	CGG		0.507	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		19	103	0	0	0	1	0	19	103				
MAP7D2	256714	broad.mit.edu	37	X	20044031	20044031	+	Silent	SNP	C	C	T			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chrX:20044031C>T	ENST00000379651.3	-	8	942	c.924G>A	c.(922-924)acG>acA	p.T308T	MAP7D2_ENST00000543767.1_Silent_p.T193T|MAP7D2_ENST00000443379.3_Silent_p.T263T|MAP7D2_ENST00000452324.3_Silent_p.T256T|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Silent_p.T349T	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	308					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGGAGGTTTCGTTGTCTTTG	0.493																																						uc010nfo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1045-1047)acG>acA		Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.							187.0	174.0	178.0					X																	20044031		2203	4300	6503	SO:0001819	synonymous_variant	256714							g.chrX:20044031C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.924G>A	X.37:g.20044031C>T			Somatic				MAP7D2_uc004czq.2_Silent_p.T193T|MAP7D2_uc011mji.2_Silent_p.T256T|MAP7D2_uc004czr.2_Silent_p.T308T|MAP7D2_uc011mjj.2_Silent_p.T263T	p.T349T	NM_001168465	NP_001161937	WXS	Illumina GAIIx	Phase_I	Q96T17	MA7D2_HUMAN			8	1164	-			308					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.1047G>A	CCDS14195.1																																																																																				0.493	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		37	252	0	0	0	1	0	37	252				
TMTC4	84899	broad.mit.edu	37	13	101278051	101278051	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr13:101278051G>A	ENST00000376234.3	-	13	1814	c.1625C>T	c.(1624-1626)gCt>gTt	p.A542V	TMTC4_ENST00000342624.5_Missense_Mutation_p.A561V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.A431V	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	542						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TATTTGAACAGCCAAAGACAG	0.368																																						uc001vot.3																			0		p.A561S(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1681-1683)gCt>gTt		Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.							64.0	68.0	67.0					13																	101278051		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101278051G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1625C>T	13.37:g.101278051G>A	ENSP00000365408:p.Ala542Val		Somatic				TMTC4_uc001vou.3_Missense_Mutation_p.A542V|TMTC4_uc010tja.2_Missense_Mutation_p.A431V|TMTC4_uc001vov.1_Missense_Mutation_p.A287V|TMTC4_uc001vow.1_Missense_Mutation_p.A325V	p.A561V	NM_032813	NP_001073137	WXS	Illumina GAIIx	Phase_I	Q5T4D3	TMTC4_HUMAN			13	1995	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		542					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1682C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885103	0.91814	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.72942	-0.7;-0.7;-0.7	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85557	0.5724	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;1.0;1.0	D;D;D;D	0.91635	0.98;0.967;0.999;0.99	D	0.85978	0.1481	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	431;542;542;561	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	V	542;561;431	ENSP00000365408:A542V;ENSP00000343871:A561V;ENSP00000365409:A431V	ENSP00000365409:A431V	A	-	2	0	TMTC4	100076052	1.000000	0.71417	0.997000	0.53966	0.605000	0.37080	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	GCT		0.368	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		4	50	0	0	0	1	0	4	50				
MMP24	10893	broad.mit.edu	37	20	33839758	33839758	+	Missense_Mutation	SNP	G	G	A	rs557891491		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:33839758G>A	ENST00000246186.6	+	3	531	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	149	Poly-Arg.				cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CACTTAAGCCGTAGGCGGAGA	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21605	0.0		0.0	False		,,,				2504	0.0					uc002xbu.2																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(445-447)cGt>cAt		Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.							138.0	144.0	142.0					20																	33839758		2029	4186	6215	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33839758G>A	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.446G>A	20.37:g.33839758G>A	ENSP00000246186:p.Arg149His		Somatic				EDEM2_uc010zuv.1_Intron	p.R149H	NM_006690	NP_006681	WXS	Illumina GAIIx	Phase_I	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	449	+			149			Poly-Arg.		B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.446G>A	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669497	0.47677	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.17054	2.3	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);	0.112422	0.64402	D	0.000012	T	0.17492	0.0420	M	0.64997	1.995	0.34728	D	0.729402	B	0.10296	0.003	B	0.09377	0.004	T	0.10894	-1.0610	10	0.35671	T	0.21	.	8.6868	0.34243	0.2356:0.0:0.7644:0.0	.	149	Q9Y5R2	MMP24_HUMAN	H	149;97	ENSP00000246186:R149H	ENSP00000246186:R149H	R	+	2	0	MMP24	33303174	0.998000	0.40836	0.870000	0.34147	0.854000	0.48673	3.501000	0.53325	1.407000	0.46875	0.655000	0.94253	CGT		0.547	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		4	188	0	0	0	1	0	4	188				
MOG	4340	broad.mit.edu	37	6	29627259	29627259	+	Silent	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:29627259G>A	ENST00000376917.3	+	2	481	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MOG_ENST00000376898.3_Silent_p.K84K|MOG_ENST00000376894.4_Silent_p.K84K|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Silent_p.K84K|MOG_ENST00000396701.2_Silent_p.K84K|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000483013.1_Intron|MOG_ENST00000396704.3_Silent_p.K84K|MOG_ENST00000416766.2_Silent_p.K84K|MOG_ENST00000494692.1_Silent_p.K84K|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Silent_p.K84K|MOG_ENST00000376902.3_Silent_p.K84K|MOG_ENST00000431798.2_Silent_p.K84K	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	84	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GAAATGGCAAGGACCAAGATG	0.547																																						uc003nmy.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(250-252)aaG>aaA		Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.							115.0	114.0	114.0					6																	29627259		1511	2709	4220	SO:0001819	synonymous_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627259G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.252G>A	6.37:g.29627259G>A			Somatic				MOG_uc003qzk.2_Silent_p.K84K|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Silent_p.K14K|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Silent_p.K84K|MOG_uc003nnf.3_Silent_p.K84K|MOG_uc003nng.3_Silent_p.K84K|MOG_uc003nni.3_Silent_p.K84K|MOG_uc003nnh.3_Silent_p.K84K|MOG_uc003nnj.3_Silent_p.K84K|MOG_uc003nnk.3_Silent_p.K84K	p.K84K	NM_206809	NP_996532	WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			1	481	+			84			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.252G>A	CCDS34370.1																																																																																				0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		3	139	0	0	0	1	0	3	139				
MYO7A	4647	broad.mit.edu	37	11	76867737	76867737	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:76867737A>G	ENST00000409709.3	+	6	774	c.502A>G	c.(502-504)Aca>Gca	p.T168A	MYO7A_ENST00000458637.2_Missense_Mutation_p.T168A|MYO7A_ENST00000409893.1_Missense_Mutation_p.T168A|MYO7A_ENST00000409619.2_Missense_Mutation_p.T157A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	168	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACGGAGAGCACAAAGCTGAT	0.617																																						uc001oyb.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(502-504)Aca>Gca		Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.							73.0	84.0	80.0					11																	76867737		2119	4219	6338	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr11:76867737A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.502A>G	11.37:g.76867737A>G	ENSP00000386331:p.Thr168Ala		Somatic				MYO7A_uc010rsl.2_Missense_Mutation_p.T168A|MYO7A_uc010rsm.1_Missense_Mutation_p.T157A|MYO7A_uc001oyc.2_Missense_Mutation_p.T168A	p.T168A	NM_000260	NP_000251	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			5	774	+			168			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.502A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	a	24.5	4.535280	0.85812	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.95	4.95	0.65309	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.89399	0.6704	L	0.35288	1.05	0.80722	D	1	P;D;D	0.89917	0.938;0.991;1.0	P;P;D	0.91635	0.823;0.873;0.999	D	0.88896	0.3349	10	0.38643	T	0.18	.	14.7906	0.69841	1.0:0.0:0.0:0.0	.	168;168;168	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	A	168;168;168;157;167;167;167;167	ENSP00000386331:T168A;ENSP00000386689:T168A;ENSP00000392185:T168A;ENSP00000386635:T157A	ENSP00000345075:T167A	T	+	1	0	MYO7A	76545385	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	6.182000	0.71995	2.065000	0.61736	0.529000	0.55759	ACA		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	184	0	0	0	1	0	7	184				
CENPT	80152	broad.mit.edu	37	16	67862707	67862707	+	Silent	SNP	A	A	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr16:67862707A>G	ENST00000562787.1	-	14	1868	c.1320T>C	c.(1318-1320)caT>caC	p.H440H	CENPT_ENST00000219172.3_Silent_p.H440H|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Silent_p.H385H|CENPT_ENST00000440851.2_Silent_p.H440H	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	440					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCCTAGGGGGATGCCTGACCA	0.582																																						uc002eun.4																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1318-1320)caT>caC		Homo sapiens centromere protein T (CENPT), mRNA.							67.0	74.0	72.0					16																	67862707		1895	4109	6004	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67862707A>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1320T>C	16.37:g.67862707A>G			Somatic				CENPT_uc010vkc.2_Silent_p.H198H|CENPT_uc010vkd.1_Silent_p.H193H	p.H440H	NM_025082	NP_079358	WXS	Illumina GAIIx	Phase_I	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	13	1869	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	440					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1320T>C	CCDS42182.1																																																																																				0.582	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		3	138	0	0	0	1	0	3	138				
EIF2B5	8893	broad.mit.edu	37	3	183856019	183856019	+	Silent	SNP	C	C	T			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr3:183856019C>T	ENST00000273783.3	+	5	872	c.750C>T	c.(748-750)agC>agT	p.S250S	EIF2B5_ENST00000444495.1_Silent_p.S250S|RP11-778D9.12_ENST00000608135.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	250					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCATATCAGCATCTGTTCTC	0.468																																						uc003fmp.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(748-750)agC>agT		Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA.							161.0	147.0	152.0					3																	183856019		2203	4300	6503	SO:0001819	synonymous_variant	8893				RNA metabolic process|astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183856019C>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.750C>T	3.37:g.183856019C>T			Somatic				EIF2B5_uc003fmq.3_5'UTR	p.S250S	NM_003907	NP_003898	WXS	Illumina GAIIx	Phase_I	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		4	1114	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		250					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.750C>T	CCDS3252.1																																																																																				0.468	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			9	96	0	0	0	1	0	9	96				
ANKRD30A	91074	broad.mit.edu	37	10	37414918	37414918	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr10:37414918T>C	ENST00000602533.1	+	1	134	c.35T>C	c.(34-36)aTa>aCa	p.I12T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I12T|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I12T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	68					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACCTTAATATACAAGACGCC	0.592																																						uc021ppc.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(34-36)aTa>aCa		Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.							63.0	63.0	63.0					10																	37414918		1867	4102	5969	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37414918T>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.35T>C	10.37:g.37414918T>C	ENSP00000473551:p.Ile12Thr		Somatic				ANKRD30A_uc001iza.1_Missense_Mutation_p.I12T	p.I12T	NM_052997	NP_443723	WXS	Illumina GAIIx	Phase_I	Q9BXX3	AN30A_HUMAN			0	134	+			68					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.35T>C		.	.	.	.	.	.	.	.	.	.	.	0.159	-1.083624	0.01888	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.71579	-0.58;-0.58	0.682	-1.36	0.09085	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.48677	0.1513	N	0.16656	0.425	0.09310	N	1	B	0.23650	0.089	B	0.30782	0.12	T	0.28870	-1.0030	9	0.32370	T	0.25	.	1.7412	0.02952	0.4007:0.2987:0.0:0.3007	.	68	Q9BXX3	AN30A_HUMAN	T	12	ENSP00000354432:I12T;ENSP00000363792:I12T	ENSP00000354432:I12T	I	+	2	0	ANKRD30A	37454924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.143000	0.10296	-1.695000	0.01423	-0.860000	0.03012	ATA		0.592	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	39	0	0	0	1	0	3	39				
PRPF39	55015	broad.mit.edu	37	14	45579424	45579424	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr14:45579424G>A	ENST00000355765.6	+	9	1473		c.e9+1		SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAACAGCAGGGTAAGAGTGGA	0.418																																						uc001wvz.4																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.e9+1		Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.							90.0	86.0	87.0					14																	45579424		2203	4300	6503	SO:0001630	splice_region_variant	55015				RNA splicing|mRNA processing	nucleus	binding	g.chr14:45579424G>A	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1303+1G>A	14.37:g.45579424G>A			Somatic				PRPF39_uc001wvy.4_Splice_Site_p.G314_splice|PRPF39_uc010and.3_Splice_Site_p.G225_splice|PRPF39_uc001wwa.1_Splice_Site_p.G39_splice|SNORD127_uc010ane.3_5'Flank	p.G435_splice	NM_017922	NP_060392	WXS	Illumina GAIIx	Phase_I	Q86UA1	PRP39_HUMAN			9	1473	+			435					Q08AL1|Q08AL2|Q9NUU5	Splice_Site	SNP	ENST00000355765.6	37	c.1303_splice	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540507	0.65085	.	.	ENSG00000185246	ENST00000355765	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0642	0.93103	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF39	44649174	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.869000	0.99810	2.607000	0.88179	0.563000	0.77884	.		0.418	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2		Intron	3	40	0	0	0	1	0	3	40				
SYNE2	23224	broad.mit.edu	37	14	64599082	64599082	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr14:64599082G>A	ENST00000344113.4	+	77	14652	c.14440G>A	c.(14440-14442)Gaa>Aaa	p.E4814K	SYNE2_ENST00000555002.1_Missense_Mutation_p.E1448K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1199K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1199K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4731K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4814K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4814					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTTGGGCAGAACAAGTAAC	0.383																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(14440-14442)Gaa>Aaa		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							85.0	89.0	88.0					14																	64599082		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64599082G>A	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.14440G>A	14.37:g.64599082G>A	ENSP00000341781:p.Glu4814Lys		Somatic				SYNE2_uc001xgm.3_Missense_Mutation_p.E4814K|SYNE2_uc021ruh.1_Missense_Mutation_p.E4731K|SYNE2_uc010apy.3_Missense_Mutation_p.E1199K|SYNE2_uc010apz.1_Missense_Mutation_p.E706K	p.E4814K	NM_182914	NP_878918	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)	76	14670	+			4814					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.14440G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809246	0.50421	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59502	0.49;3.8;0.49;0.26;3.84;3.8	5.42	5.42	0.78866	.	0.118800	0.37348	N	0.002127	T	0.67458	0.2895	M	0.68952	2.095	0.80722	D	1	P;P;D	0.53745	0.837;0.895;0.962	P;P;P	0.51657	0.642;0.468;0.676	T	0.70952	-0.4732	10	0.66056	D	0.02	.	16.7248	0.85418	0.0:0.0:1.0:0.0	.	1199;4814;4814	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4814;1199;4814;4731;4731;1448;1199	ENSP00000350719:E4814K;ENSP00000349969:E1199K;ENSP00000341781:E4814K;ENSP00000452570:E4731K;ENSP00000450831:E1448K;ENSP00000378249:E1199K	ENSP00000261678:E4731K	E	+	1	0	SYNE2	63668835	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.663000	0.68038	2.683000	0.91414	0.655000	0.94253	GAA		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		3	114	0	0	0	1	0	3	114				
ABCA3	21	broad.mit.edu	37	16	2369769	2369769	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr16:2369769G>A	ENST00000301732.5	-	8	1386	c.686C>T	c.(685-687)gCc>gTc	p.A229V	ABCA3_ENST00000382381.3_Missense_Mutation_p.A229V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	229					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCGTGTGGCGGCATCGGCATG	0.637																																						uc002cpy.1																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(685-687)gCc>gTc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.							126.0	99.0	108.0					16																	2369769		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369769G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.686C>T	16.37:g.2369769G>A	ENSP00000301732:p.Ala229Val		Somatic				ABCA3_uc010bsk.1_Missense_Mutation_p.A229V|ABCA3_uc010bsl.1_Missense_Mutation_p.A229V	p.A229V	NM_001089	NP_001080	WXS	Illumina GAIIx	Phase_I	Q99758	ABCA3_HUMAN			7	1398	-		Ovarian(90;0.17)	229					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.686C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	5.225	0.227069	0.09916	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90324	-2.65	5.18	3.19	0.36642	.	0.657737	0.16253	N	0.222636	T	0.81029	0.4738	N	0.13043	0.29	0.09310	N	0.999999	B;B;B	0.13594	0.008;0.004;0.008	B;B;B	0.16722	0.016;0.016;0.016	T	0.67098	-0.5756	10	0.28530	T	0.3	.	9.7576	0.40513	0.0:0.2882:0.5627:0.149	.	229;291;229	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	V	229;291	ENSP00000301732:A229V	ENSP00000301732:A229V	A	-	2	0	ABCA3	2309770	0.399000	0.25287	0.001000	0.08648	0.000000	0.00434	3.559000	0.53756	0.746000	0.32786	-0.175000	0.13238	GCC		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		3	144	0	0	0	1	0	3	144				
ZNF426	79088	broad.mit.edu	37	19	9640216	9640216	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:9640216T>C	ENST00000535489.1	-	6	841	c.505A>G	c.(505-507)Agt>Ggt	p.S169G	ZNF426_ENST00000593003.1_Missense_Mutation_p.S131G|ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.S169G			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTCCCTGTACTTTGAGTTCTC	0.428																																						uc002mlq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(505-507)Agt>Ggt		Homo sapiens zinc finger protein 426 (ZNF426), mRNA.							124.0	109.0	114.0					19																	9640216		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9640216T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.505A>G	19.37:g.9640216T>C	ENSP00000439017:p.Ser169Gly		Somatic				ZNF426_uc010dws.3_Missense_Mutation_p.S131G	p.S169G	NM_024106	NP_077011	WXS	Illumina GAIIx	Phase_I	Q9BUY5	ZN426_HUMAN			7	769	-			169					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.505A>G	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347587	0.24426	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.29655	1.56;1.56	1.56	0.518	0.17030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.27454	0.0674	L	0.52126	1.63	0.18873	N	0.999984	B;B	0.27498	0.067;0.18	B;B	0.33846	0.013;0.171	T	0.36237	-0.9756	9	0.66056	D	0.02	.	4.7789	0.13192	0.0:0.1902:0.0:0.8098	.	156;169	Q59EH4;Q9BUY5	.;ZN426_HUMAN	G	156;169;169	ENSP00000253115:S169G;ENSP00000439017:S169G	ENSP00000253115:S169G	S	-	1	0	ZNF426	9501216	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	0.432000	0.21461	0.099000	0.17552	0.383000	0.25322	AGT		0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		8	78	0	0	0	1	0	8	78				
LCK	3932	broad.mit.edu	37	1	32739980	32739980	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr1:32739980T>C	ENST00000336890.5	+	2	188	c.50T>C	c.(49-51)aTc>aCc	p.I17T	LCK_ENST00000333070.4_Missense_Mutation_p.I17T|LCK_ENST00000373564.3_Missense_Mutation_p.I17T	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	17	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ATGGAAAACATCGATGTGTGT	0.577			T	TRB@	T-ALL																																	uc001buz.3				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(49-51)aTc>aCc		Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	Dasatinib(DB01254)						116.0	101.0	106.0					1																	32739980		2203	4300	6503	SO:0001583	missense	3932				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity	g.chr1:32739980T>C	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.50T>C	1.37:g.32739980T>C	ENSP00000337825:p.Ile17Thr		Somatic				LCK_uc001bux.3_Missense_Mutation_p.I17T|LCK_uc001buy.3_Missense_Mutation_p.I17T|LCK_uc010ohc.1_Missense_Mutation_p.I61T|LCK_uc001bva.3_Missense_Mutation_p.I17T	p.I17T	NM_005356	NP_005347	WXS	Illumina GAIIx	Phase_I	P06239	LCK_HUMAN			1	171	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	17			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.50T>C	CCDS359.1	.	.	.	.	.	.	.	.	.	.	t	9.269	1.045145	0.19748	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.03	5.03	0.67393	.	0.201710	0.33572	N	0.004776	T	0.45915	0.1366	L	0.50333	1.59	0.33410	D	0.578493	B;B;B;B	0.32693	0.323;0.346;0.38;0.204	B;B;B;B	0.33454	0.079;0.052;0.164;0.035	T	0.55679	-0.8103	10	0.15952	T	0.53	.	13.9372	0.64032	0.0:0.0:0.0:1.0	.	61;17;17;17	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	T	17;17;17;17;17;61;61;17;61;17	ENSP00000337825:I17T;ENSP00000431517:I17T;ENSP00000435605:I17T;ENSP00000434525:I17T;ENSP00000362663:I17T;ENSP00000436554:I61T;ENSP00000362658:I61T;ENSP00000328213:I17T;ENSP00000362665:I17T	ENSP00000328213:I17T	I	+	2	0	LCK	32512567	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	5.969000	0.70422	2.037000	0.60232	0.399000	0.26434	ATC		0.577	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		4	215	0	0	0	1	0	4	215				
TM7SF2	7108	broad.mit.edu	37	11	64879505	64879506	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:64879505_64879506delCC	ENST00000279263.7	+	1	180_181	c.18_19delCC	c.(16-21)ggccccfs	p.P7fs	TM7SF2_ENST00000540748.1_5'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Frame_Shift_Del_p.P7fs	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	7					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACTCAGGGCCCCCGGGCCCC	0.639																																						uc001oct.3																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(16-21)ggccccfs		Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.																																				SO:0001589	frameshift_variant	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64879505_64879506delCC	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.18_19delCC	11.37:g.64879507_64879508delCC	ENSP00000279263:p.Pro7fs		Somatic				TM7SF2_uc010rny.2_5'UTR|TM7SF2_uc001ocu.3_Frame_Shift_Del_p.G6fs|TM7SF2_uc001ocv.3_5'UTR	p.G6fs	NM_003273	NP_003264	WXS	Illumina GAIIx	Phase_I	O76062	ERG24_HUMAN			0	165_166	+			6					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Frame_Shift_Del	DEL	ENST00000279263.7	37	c.18_19delCC	CCDS41669.1																																																																																				0.639	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		6	12						6	12	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42159282	42159282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr15:42159282delG	ENST00000320955.6	-	36	6582	c.6355delC	c.(6355-6357)cggfs	p.R2119fs	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2119					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCCGCACCCGGGGGCGCCGG	0.731																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(6250-6252)cggfs		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							3.0	4.0	4.0					15																	42159282		1644	3720	5364	SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42159282delG	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6355delC	15.37:g.42159282delG	ENSP00000317790:p.Arg2119fs		Somatic				MIR4310_uc021sjo.1_5'Flank	p.R2084fs	NM_016642	NP_057726	WXS	Illumina GAIIx	Phase_I	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	35	6583	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2119						Frame_Shift_Del	DEL	ENST00000320955.6	37	c.6250delC																																																																																					0.731	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		2	4						2	4	---	---	---	---
