#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTBD7	55727	broad.mit.edu	37	14	93708856	93708856	+	Silent	SNP	G	G	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr14:93708856G>A	ENST00000334746.5	-	11	3469	c.3162C>T	c.(3160-3162)gtC>gtT	p.V1054V	BTBD7_ENST00000393170.2_Silent_p.V628V|BTBD7_ENST00000554565.1_Silent_p.V703V	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1054					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTCGTCCCCTGACATGGGCTG	0.527																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(3160-3162)gtC>gtT		BTB (POZ) domain containing 7							106.0	114.0	112.0					14																	93708856		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93708856G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3162C>T	14.37:g.93708856G>A						BTBD7_ENST00000393170.2_Silent_p.V628V|BTBD7_ENST00000554565.1_Silent_p.V703V	p.V1054V	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3469	-		all_cancers(154;0.08)	1054					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.3162C>T	CCDS32146.1																																																																																				0.527	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		41	77	0	0	0	1	0	41	77				
MAGI3	260425	broad.mit.edu	37	1	114215328	114215328	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr1:114215328G>A	ENST00000307546.9	+	18	3085	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	MAGI3_ENST00000369617.4_Missense_Mutation_p.A1029T|MAGI3_ENST00000369611.4_Missense_Mutation_p.A1004T|MAGI3_ENST00000369615.1_Missense_Mutation_p.A1004T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1029					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTGACACCGCAGTAATTTC	0.458																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3010-3012)Gca>Aca		membrane associated guanylate kinase, WW and PDZ domain containing 3							217.0	216.0	216.0					1																	114215328		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215328G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3010G>A	1.37:g.114215328G>A	ENSP00000304604:p.Ala1004Thr					MAGI3_ENST00000369617.4_Missense_Mutation_p.A1029T|MAGI3_ENST00000307546.9_Missense_Mutation_p.A1004T|MAGI3_ENST00000369611.4_Missense_Mutation_p.A1004T	p.A1004T	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3072	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1029					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3010G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	5.876	0.345845	0.11126	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.16597	2.52;2.33;2.52;2.52	5.86	4.94	0.65067	.	0.165882	0.51477	D	0.000097	T	0.03827	0.0108	N	0.16478	0.41	0.09310	N	1	B;B;B	0.17268	0.021;0.0;0.005	B;B;B	0.11329	0.006;0.0;0.004	T	0.31166	-0.9953	10	0.19147	T	0.46	-13.5001	12.3558	0.55174	0.0801:0.0:0.9199:0.0	.	1004;1004;1029	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	1029;1004;1004;1004;44	ENSP00000358630:A1029T;ENSP00000304604:A1004T;ENSP00000358628:A1004T;ENSP00000358624:A1004T	ENSP00000304604:A1004T	A	+	1	0	MAGI3	114016851	0.893000	0.30496	0.069000	0.20011	0.164000	0.22412	3.285000	0.51716	2.776000	0.95493	0.650000	0.86243	GCA		0.458	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	225	0	0	0	1	0	4	225				
LAPTM4B	55353	broad.mit.edu	37	8	98817641	98817641	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:98817641A>G	ENST00000521545.2	+	2	394	c.160A>G	c.(160-162)Aac>Gac	p.N54D	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.N145D			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	198					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GGATCAGTATAACTTTTCAAG	0.378																																						ENST00000445593.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10						c.(433-435)Aac>Gac		lysosomal protein transmembrane 4 beta							156.0	150.0	152.0					8																	98817641		2203	4300	6503	SO:0001583	missense	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98817641A>G	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.160A>G	8.37:g.98817641A>G	ENSP00000428409:p.Asn54Asp					LAPTM4B_ENST00000521545.2_Missense_Mutation_p.N54D	p.N145D	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		2	1113	+	Breast(36;1.59e-06)		198					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000521545.2	37	c.433A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.47|17.47	3.396934|3.396934	0.62177|0.62177	.|.	.|.	ENSG00000104341|ENSG00000104341	ENST00000517924|ENST00000445593;ENST00000378722;ENST00000521545	.|T;T	.|0.47177	.|0.85;0.92	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.053328	.|0.85682	.|D	.|0.000000	T|T	0.29126|0.29126	0.0724|0.0724	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.13469|0.13469	-1.0508|-1.0508	5|10	.|0.13853	.|T	.|0.58	-15.4479|-15.4479	12.6415|12.6415	0.56712|0.56712	0.1663:0.8337:0.0:0.0|0.1663:0.8337:0.0:0.0	.|.	.|198	.|Q86VI4	.|LAP4B_HUMAN	M|D	107|145;191;54	.|ENSP00000402301:N145D;ENSP00000428409:N54D	.|ENSP00000367995:N191D	I|N	+|+	3|1	3|0	LAPTM4B|LAPTM4B	98886817|98886817	1.000000|1.000000	0.71417|0.71417	0.693000|0.693000	0.30195|0.30195	0.422000|0.422000	0.31414|0.31414	3.801000|3.801000	0.55545|0.55545	1.282000|1.282000	0.44496|0.44496	-0.121000|-0.121000	0.15023|0.15023	ATA|AAC		0.378	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2			43	80	0	0	0	1	0	43	80				
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788.0	697.0	725.0					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	631	0	0	0	1	0	7	631				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	110	0	0	0	1	0	5	110				
NOL8	55035	broad.mit.edu	37	9	95064090	95064090	+	Missense_Mutation	SNP	T	T	C	rs199815525		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr9:95064090T>C	ENST00000535387.1	-	11	2803	c.2804A>G	c.(2803-2805)aAa>aGa	p.K935R	NOL8_ENST00000542053.1_Missense_Mutation_p.K905R|NOL8_ENST00000545558.1_Missense_Mutation_p.K973R|NOL8_ENST00000442668.2_Missense_Mutation_p.K973R|NOL8_ENST00000358855.4_Missense_Mutation_p.K905R					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CCTTTTCTTTTTTCGTTTTGC	0.313													T|||	1	0.000199681	0.0	0.0	5008	,	,		16457	0.0		0.001	False		,,,				2504	0.0					ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2917-2919)aAa>aGa		nucleolar protein 8		T	ARG/LYS	1,3623		0,1,1811	45.0	37.0	40.0		2918	3.3	1.0	9		40	3,8131		0,3,4064	yes	missense	NOL8	NM_017948.5	26	0,4,5875	CC,CT,TT		0.0369,0.0276,0.034	benign	973/1168	95064090	4,11754	1812	4067	5879	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95064090T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2804A>G	9.37:g.95064090T>C	ENSP00000441300:p.Lys935Arg					NOL8_ENST00000442668.2_Missense_Mutation_p.K973R|NOL8_ENST00000358855.4_Missense_Mutation_p.K905R|NOL8_ENST00000535387.1_Missense_Mutation_p.K935R|NOL8_ENST00000542053.1_Missense_Mutation_p.K905R	p.K973R			Q76FK4	NOL8_HUMAN			13	3410	-			973						Missense_Mutation	SNP	ENST00000535387.1	37	c.2918A>G	CCDS47993.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	17.44	3.389746	0.61956	2.76E-4	3.69E-4	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	6.01	3.33	0.38152	.	0.141491	0.64402	N	0.000006	T	0.12603	0.0306	N	0.20685	0.6	0.33851	D	0.632601	B;B	0.24043	0.096;0.058	B;B	0.22152	0.038;0.038	T	0.17868	-1.0355	10	0.23891	T	0.37	-14.4769	10.581	0.45255	0.0:0.1601:0.0:0.8399	.	905;973	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	R	973;937;905;973;935;905	ENSP00000401177:K973R;ENSP00000351723:K905R;ENSP00000441140:K973R;ENSP00000441300:K935R;ENSP00000440709:K905R	ENSP00000351723:K905R	K	-	2	0	NOL8	94103911	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.098000	0.41757	1.083000	0.41159	0.528000	0.53228	AAA		0.313	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		3	3	0	0	0	1	0	3	3				
MPO	4353	broad.mit.edu	37	17	56349039	56349039	+	Silent	SNP	G	G	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr17:56349039G>A	ENST00000225275.3	-	11	2183	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F	MPO_ENST00000340482.3_Silent_p.F701F	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	669					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGAGCTTCCTGAACTGGGTAC	0.642																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(2101-2103)ttC>ttT		myeloperoxidase	Cefdinir(DB00535)						46.0	43.0	44.0					17																	56349039		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56349039G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2007C>T	17.37:g.56349039G>A						MPO_ENST00000225275.3_Silent_p.F669F	p.F701F			P05164	PERM_HUMAN			10	2279	-			669					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.2103C>T	CCDS11604.1																																																																																				0.642	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			8	18	0	0	0	1	0	8	18				
ASXL2	55252	broad.mit.edu	37	2	25982350	25982350	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr2:25982350C>T	ENST00000435504.4	-	9	1233		c.e9+1		ASXL2_ENST00000404843.1_Splice_Site|ASXL2_ENST00000336112.4_Splice_Site|ASXL2_ENST00000272341.4_Splice_Site			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2						adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATGACGCACCTGTCGATCT	0.373																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.e9+1		additional sex combs like 2 (Drosophila)							157.0	144.0	148.0					2																	25982350		1860	4105	5965	SO:0001630	splice_region_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25982350C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.939+1G>A	2.37:g.25982350C>T						ASXL2_ENST00000272341.4_Splice_Site|ASXL2_ENST00000336112.4_Splice_Site|ASXL2_ENST00000404843.1_Splice_Site				Q76L83	ASXL2_HUMAN			9	1233	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Splice_Site	SNP	ENST00000435504.4	37			.	.	.	.	.	.	.	.	.	.	C	29.4	5.007080	0.93287	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4653	0.90752	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASXL2	25835854	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.672000	0.83956	2.704000	0.92352	0.655000	0.94253	.		0.373	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	Intron	19	42	0	0	0	1	0	19	42				
DLX5	1749	broad.mit.edu	37	7	96653671	96653671	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr7:96653671C>T	ENST00000222598.4	-	1	738	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	DLX5_ENST00000486603.2_Missense_Mutation_p.A89T|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	89					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TAAGCTTTGGCTGGGTAGCTC	0.602																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(265-267)Gcc>Acc		distal-less homeobox 5							56.0	55.0	55.0					7																	96653671		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96653671C>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.265G>A	7.37:g.96653671C>T	ENSP00000222598:p.Ala89Thr					DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A89T	p.A89T	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			1	738	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		89					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.265G>A	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989172	0.35131	.	.	ENSG00000105880	ENST00000222598	D	0.89746	-2.56	4.97	4.97	0.65823	.	0.240802	0.42294	D	0.000729	D	0.82967	0.5152	N	0.22421	0.69	0.45129	D	0.998144	B;B	0.20368	0.001;0.044	B;B	0.26864	0.002;0.074	T	0.77186	-0.2680	10	0.18276	T	0.48	-8.8541	18.4442	0.90678	0.0:1.0:0.0:0.0	.	89;89	B7Z4P3;P56178	.;DLX5_HUMAN	T	89	ENSP00000222598:A89T	ENSP00000222598:A89T	A	-	1	0	DLX5	96491607	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	3.758000	0.55220	2.583000	0.87209	0.561000	0.74099	GCC		0.602	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			20	29	0	0	0	1	0	20	29				
TLR2	7097	broad.mit.edu	37	4	154624745	154624745	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr4:154624745T>C	ENST00000260010.6	+	1	2094	c.686T>C	c.(685-687)cTg>cCg	p.L229P		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	229					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TGTTTGGAACTGCGAGATACT	0.338																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(685-687)cTg>cCg		toll-like receptor 2							82.0	79.0	80.0					4																	154624745		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624745T>C	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.686T>C	4.37:g.154624745T>C	ENSP00000260010:p.Leu229Pro						p.L229P	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	2094	+	all_hematologic(180;0.093)	Renal(120;0.117)	229					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.686T>C	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376247	0.42105	.	.	ENSG00000137462	ENST00000260010	D	0.96745	-4.11	5.61	4.43	0.53597	.	0.326269	0.25958	N	0.027204	D	0.96497	0.8857	L	0.40543	1.245	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	D	0.96390	0.9288	10	0.87932	D	0	.	11.2608	0.49083	0.0:0.0715:0.0:0.9285	.	229	O60603	TLR2_HUMAN	P	229	ENSP00000260010:L229P	ENSP00000260010:L229P	L	+	2	0	TLR2	154844195	1.000000	0.71417	0.967000	0.41034	0.082000	0.17680	5.123000	0.64703	2.261000	0.74972	0.533000	0.62120	CTG		0.338	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			26	49	0	0	0	1	0	26	49				
ADNP2	22850	broad.mit.edu	37	18	77895268	77895268	+	Missense_Mutation	SNP	G	G	A	rs572333470		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr18:77895268G>A	ENST00000262198.4	+	4	2427	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	658					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G658S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCCATGCCCGGCATGCCCTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		20284	0.0		0.0	False		,,,				2504	0.001					ENST00000262198.4																			1	Substitution - Missense(1)	p.G658S(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1972-1974)Ggc>Agc		ADNP homeobox 2							75.0	67.0	69.0					18																	77895268		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895268G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1972G>A	18.37:g.77895268G>A	ENSP00000262198:p.Gly658Ser						p.G658S	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2427	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	658					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1972G>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.301098	0.00243	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	-1.77	0.07982	.	0.507797	0.18998	N	0.125431	T	0.18425	0.0442	N	0.04297	-0.235	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18555	-1.0333	8	.	.	.	-2.5949	13.93	0.63989	0.8458:0.0:0.1542:0.0	.	658	Q6IQ32	ADNP2_HUMAN	S	658	.	.	G	+	1	0	ADNP2	75996259	0.000000	0.05858	0.009000	0.14445	0.017000	0.09413	0.316000	0.19469	-0.623000	0.05618	-0.142000	0.14014	GGC		0.632	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		3	46	0	0	0	1	0	3	46				
ALDH7A1	501	broad.mit.edu	37	5	125887739	125887739	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr5:125887739G>C	ENST00000409134.3	-	14	1510	c.1291C>G	c.(1291-1293)Ccg>Gcg	p.P431A	RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.P394A|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.P367A	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	431					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		TAGAGAATCGGAGCAAAAGTC	0.398																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1291-1293)Ccg>Gcg		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						76.0	68.0	71.0					5																	125887739		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125887739G>C	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1291C>G	5.37:g.125887739G>C	ENSP00000387123:p.Pro431Ala					ALDH7A1_ENST00000447989.2_Missense_Mutation_p.P394A|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.P367A	p.P431A	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	14	1510	-		all_cancers(142;0.24)|Prostate(80;0.081)	431					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.1291C>G	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107058	0.77096	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	D;D;D	0.95272	-3.66;-3.66;-3.66	4.88	4.01	0.46588	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.98068	4.14	0.49130	D	0.99975	D;D	0.76494	0.984;0.999	D;D	0.69654	0.93;0.965	D	0.98939	1.0790	10	0.87932	D	0	.	13.2222	0.59894	0.0778:0.0:0.9222:0.0	.	394;431	E7EPT3;P49419	.;AL7A1_HUMAN	A	431;367;394;239	ENSP00000387123:P431A;ENSP00000448593:P367A;ENSP00000414132:P394A	ENSP00000387123:P431A	P	-	1	0	ALDH7A1	125915638	1.000000	0.71417	0.988000	0.46212	0.949000	0.60115	9.455000	0.97625	1.416000	0.47057	0.655000	0.94253	CCG		0.398	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		5	28	0	0	0	1	0	5	28				
EYA3	2140	broad.mit.edu	37	1	28365380	28365380	+	Missense_Mutation	SNP	T	T	C	rs371072200		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr1:28365380T>C	ENST00000373871.3	-	5	434	c.194A>G	c.(193-195)aAt>aGt	p.N65S	EYA3_ENST00000540618.1_Missense_Mutation_p.N65S|EYA3_ENST00000373864.1_Start_Codon_SNP_p.M1V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.N12S|EYA3_ENST00000373863.3_Missense_Mutation_p.N65S|EYA3_ENST00000436342.2_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	65					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATAATCATTGGATGAGCG	0.303																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(193-195)aAt>aGt		eyes absent homolog 3 (Drosophila)							90.0	90.0	90.0					1																	28365380		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28365380T>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.194A>G	1.37:g.28365380T>C	ENSP00000362978:p.Asn65Ser					EYA3_ENST00000373863.3_Missense_Mutation_p.N65S|EYA3_ENST00000545175.1_Missense_Mutation_p.N12S|EYA3_ENST00000540618.1_Missense_Mutation_p.N65S|EYA3_ENST00000373864.1_Start_Codon_SNP_p.M1V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_5'UTR	p.N65S			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	5	434	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	65					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.194A>G	CCDS316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.97|10.97	1.501420|1.501420	0.26861|0.26861	.|.	.|.	ENSG00000158161|ENSG00000158161	ENST00000373864|ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	D|D;D;D;D	0.92149|0.91521	-2.98|-2.86;-2.82;-2.81;-2.72	5.11|5.11	2.76|2.76	0.32466|0.32466	.|.	.|0.401124	.|0.29638	.|N	.|0.011594	T|T	0.75413|0.75413	0.3846|0.3846	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.15930	.|0.008;0.015;0.008	.|B;B;B	.|0.16289	.|0.007;0.015;0.007	T|T	0.61912|0.61912	-0.6965|-0.6965	7|10	0.87932|0.07644	D|T	0|0.81	-8.8268|-8.8268	7.501|7.501	0.27518|0.27518	0.0:0.0747:0.1431:0.7822|0.0:0.0747:0.1431:0.7822	.|.	.|65;65;65	.|B4DIR7;Q8IVX7;Q99504	.|.;.;EYA3_HUMAN	V|S	1|65;65;12;65	ENSP00000362971:M1V|ENSP00000362978:N65S;ENSP00000442558:N65S;ENSP00000442280:N12S;ENSP00000362970:N65S	ENSP00000362971:M1V|ENSP00000362970:N65S	M|N	-|-	1|2	0|0	EYA3|EYA3	28237967|28237967	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.348000|1.348000	0.33987|0.33987	0.401000|0.401000	0.25424|0.25424	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.303	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		20	31	0	0	0	1	0	20	31				
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - coding silent(1)	p.P189P(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(565-567)ccC>ccT		ubiquitin B							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_ENST00000578649.1_3'UTR|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P	p.P189P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	959	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	58	0	0	0	1	0	4	58				
SEMA5A	9037	broad.mit.edu	37	5	9066665	9066665	+	Missense_Mutation	SNP	C	C	T	rs151007766		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr5:9066665C>T	ENST00000382496.5	-	17	2832	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	723	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.			G -> D (in Ref. 1; AAC09473). {ECO:0000305}.	axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCATAGTGGCCGCCGTTGTCA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		16419	0.0		0.001	False		,,,				2504	0.0					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2167-2169)Ggc>Agc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		C	SER/GLY	0,4406		0,0,2203	161.0	149.0	153.0		2167	5.5	0.9	5	dbSNP_134	153	3,8597	3.7+/-12.6	0,3,4297	yes	missense	SEMA5A	NM_003966.2	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	723/1075	9066665	3,13003	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066665C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2167G>A	5.37:g.9066665C>T	ENSP00000371936:p.Gly723Ser						p.G723S	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			17	2832	-			723	G -> D (in Ref. 1; AAC09473).		TSP type-1 4.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2167G>A	CCDS3875.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.49	3.137203	0.56936	0.0	3.49E-4	ENSG00000112902	ENST00000382496	T	0.34667	1.35	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.46157	1.445	0.80722	D	1	P	0.47910	0.902	B	0.32090	0.14	T	0.20538	-1.0272	10	0.52906	T	0.07	.	17.2904	0.87154	0.0:1.0:0.0:0.0	.	723	Q13591	SEM5A_HUMAN	S	723	ENSP00000371936:G723S	ENSP00000371936:G723S	G	-	1	0	SEMA5A	9119665	1.000000	0.71417	0.947000	0.38551	0.187000	0.23431	7.511000	0.81718	2.761000	0.94854	0.591000	0.81541	GGC		0.547	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			12	88	0	0	0	1	0	12	88				
TCERG1	10915	broad.mit.edu	37	5	145838644	145838644	+	Silent	SNP	G	G	A	rs532984875		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr5:145838644G>A	ENST00000296702.5	+	4	674	c.636G>A	c.(634-636)caG>caA	p.Q212Q	TCERG1_ENST00000394421.2_Silent_p.Q212Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	212	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.Q212Q(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ctcaggcccaggcccaggccc	0.736													G|||	1	0.000199681	0.0	0.0	5008	,	,		10842	0.0		0.001	False		,,,				2504	0.0					ENST00000296702.5																			1	Substitution - coding silent(1)	p.Q212Q(1)	central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(634-636)caG>caA		transcription elongation regulator 1							10.0	14.0	13.0					5																	145838644		2180	4269	6449	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838644G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.636G>A	5.37:g.145838644G>A						TCERG1_ENST00000394421.2_Silent_p.Q212Q	p.Q212Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	674	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	212			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.636G>A	CCDS4282.1																																																																																				0.736	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		3	30	0	0	0	1	0	3	30				
ZNF577	84765	broad.mit.edu	37	19	52383622	52383622	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr19:52383622G>A	ENST00000301399.5	-	4	379	c.14C>T	c.(13-15)aCg>aTg	p.T5M	ZNF577_ENST00000420592.1_Missense_Mutation_p.T5M|ZNF577_ENST00000451628.2_Missense_Mutation_p.T5M|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Missense_Mutation_p.T5M	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		cattacaatcgtggcattttt	0.418																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(13-15)aCg>aTg		zinc finger protein 577							202.0	187.0	192.0					19																	52383622		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52383622G>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.14C>T	19.37:g.52383622G>A	ENSP00000301399:p.Thr5Met					ZNF577_ENST00000412216.1_Missense_Mutation_p.T5M|ZNF577_ENST00000301399.5_Missense_Mutation_p.T5M|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.T5M	p.T5M			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	3	1347	-		all_neural(266;0.0602)	0					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.14C>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.092029	0.00364	.	.	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390;ENST00000453272;ENST00000446514;ENST00000419138	T;T;T;T;T;T;T	0.07216	5.58;3.21;3.26;3.26;3.21;4.26;4.04	1.95	0.774	0.18521	.	.	.	.	.	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.39099	-0.9630	9	0.51188	T	0.08	.	3.7084	0.08410	0.7946:0.0:0.2054:0.0	.	5;5	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	M	5	ENSP00000394828:T5M;ENSP00000301399:T5M;ENSP00000413476:T5M;ENSP00000389652:T5M;ENSP00000404509:T5M;ENSP00000413560:T5M;ENSP00000415307:T5M	ENSP00000301399:T5M	T	-	2	0	ZNF577	57075434	0.001000	0.12720	0.007000	0.13788	0.013000	0.08279	-0.107000	0.10873	0.198000	0.20407	-0.670000	0.03821	ACG		0.418	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		51	67	0	0	0	1	0	51	67				
DOK2	9046	broad.mit.edu	37	8	21767171	21767171	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:21767171C>T	ENST00000276420.4	-	5	1148	c.890G>A	c.(889-891)gGg>gAg	p.G297E	DOK2_ENST00000544659.1_Missense_Mutation_p.G143E	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	297					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCATACTCCCCCTCCTGGCC	0.677																																						ENST00000276420.4																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(889-891)gGg>gAg		docking protein 2, 56kDa							51.0	52.0	52.0					8																	21767171		2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767171C>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.890G>A	8.37:g.21767171C>T	ENSP00000276420:p.Gly297Glu					DOK2_ENST00000544659.1_Missense_Mutation_p.G143E	p.G297E	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	5	1148	-			297					Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.890G>A	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941167	0.73557	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.46819	1.88;1.46;0.86	5.42	5.42	0.78866	.	0.312745	0.31554	N	0.007457	T	0.57315	0.2045	M	0.75447	2.3	0.41784	D	0.989837	D;D	0.59767	0.986;0.986	P;P	0.48304	0.573;0.573	T	0.63134	-0.6705	10	0.51188	T	0.08	.	16.7074	0.85376	0.0:1.0:0.0:0.0	.	297;297	O60496;A8K7W1	DOK2_HUMAN;.	E	297;143;143	ENSP00000276420:G297E;ENSP00000443602:G143E;ENSP00000430729:G143E	ENSP00000276420:G297E	G	-	2	0	DOK2	21823117	0.998000	0.40836	0.997000	0.53966	0.671000	0.39405	2.437000	0.44828	2.541000	0.85698	0.655000	0.94253	GGG		0.677	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		20	44	0	0	0	1	0	20	44				
KCNA6	3742	broad.mit.edu	37	12	4919742	4919742	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr12:4919742G>A	ENST00000280684.3	+	1	1401	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	KCNA6_ENST00000433855.1_Missense_Mutation_p.V179I|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	179					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.V179I(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CATCGCCATCGTCTCCGTGTT	0.592										HNSCC(72;0.22)																												ENST00000433855.1																			1	Substitution - Missense(1)	p.V179I(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(535-537)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 6							67.0	59.0	62.0					12																	4919742		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919742G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.535G>A	12.37:g.4919742G>A	ENSP00000280684:p.Val179Ile	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.V179I	p.V179I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1401	+			179						Missense_Mutation	SNP	ENST00000280684.3	37	c.535G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446111	0.43429	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76060	-0.99;-0.99	4.99	4.99	0.66335	.	0.127069	0.52532	D	0.000077	T	0.60560	0.2278	N	0.25647	0.755	0.58432	D	0.999995	B	0.29188	0.236	B	0.19148	0.024	T	0.57670	-0.7771	10	0.16896	T	0.51	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	179	P17658	KCNA6_HUMAN	I	179	ENSP00000408321:V179I;ENSP00000280684:V179I	ENSP00000280684:V179I	V	+	1	0	KCNA6	4790003	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.798000	0.85924	2.595000	0.87683	0.563000	0.77884	GTC		0.592	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		22	28	0	0	0	1	0	22	28				
MTUS2	23281	broad.mit.edu	37	13	29598982	29598982	+	Silent	SNP	C	C	T	rs183635259		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr13:29598982C>T	ENST00000431530.3	+	1	235	c.177C>T	c.(175-177)gaC>gaT	p.D59D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	49						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTCTCATGACGAGTCCAAGA	0.418													c|||	1	0.000199681	0.0	0.0014	5008	,	,		21607	0.0		0.0	False		,,,				2504	0.0					ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(175-177)gaC>gaT		microtubule associated tumor suppressor candidate 2							54.0	52.0	53.0					13																	29598982		1931	4135	6066	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29598982C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.177C>T	13.37:g.29598982C>T							p.D59D	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	235	+			49					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.177C>T	CCDS45022.1																																																																																				0.418	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		7	19	0	0	0	1	0	7	19				
SYNPO	11346	broad.mit.edu	37	5	150029733	150029733	+	Silent	SNP	G	G	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr5:150029733G>T	ENST00000394243.1	+	3	3002	c.2628G>T	c.(2626-2628)ctG>ctT	p.L876L	SYNPO_ENST00000519664.1_Silent_p.L632L|SYNPO_ENST00000522122.1_Silent_p.L876L|SYNPO_ENST00000307662.4_Silent_p.L632L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	876	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGACAGCCTGCAGCCCACTG	0.716																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2626-2628)ctG>ctT		synaptopodin							55.0	61.0	59.0					5																	150029733		2203	4299	6502	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029733G>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2628G>T	5.37:g.150029733G>T						SYNPO_ENST00000519664.1_Silent_p.L632L|SYNPO_ENST00000307662.4_Silent_p.L632L|SYNPO_ENST00000522122.1_Silent_p.L876L	p.L876L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	3002	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	876			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.2628G>T	CCDS54937.1																																																																																				0.716	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		32	54	1	0	5.09552e-08	1	5.40749e-08	32	54				
MYOCD	93649	broad.mit.edu	37	17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A	rs531377746		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr17:12656007G>A	ENST00000343344.4	+	10	1402	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.A468T|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A372T			Q8IZQ8	MYCD_HUMAN	myocardin	468	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A468T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627																																						ENST00000425538.1																			1	Substitution - Missense(1)	p.A468T(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1402-1404)Gct>Act		myocardin							73.0	69.0	71.0					17																	12656007		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656007G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1402G>A	17.37:g.12656007G>A	ENSP00000341835:p.Ala468Thr					MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T|MYOCD_ENST00000395988.1_Missense_Mutation_p.A372T	p.A468T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1602	+			468			Ser-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1402G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	2.498	-0.315834	0.05422	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.43688	0.94;0.94	5.66	-1.8	0.07907	.	0.287999	0.41001	N	0.000978	T	0.23171	0.0560	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.12013	0.003;0.005;0.005;0.003	B;B;B;B	0.08055	0.001;0.002;0.003;0.001	T	0.12426	-1.0548	10	0.22109	T	0.4	-0.7432	5.8551	0.18714	0.5174:0.0:0.3524:0.1302	.	187;372;468;468	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	T	187;468;468;372;173	ENSP00000341835:A468T;ENSP00000400148:A173T	ENSP00000341835:A468T	A	+	1	0	MYOCD	12596732	0.991000	0.36638	0.000000	0.03702	0.378000	0.30076	3.173000	0.50839	-0.129000	0.11620	-0.229000	0.12294	GCT		0.627	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		17	36	0	0	0	1	0	17	36				
OAS2	4939	broad.mit.edu	37	12	113448256	113448256	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr12:113448256A>T	ENST00000342315.4	+	11	2341	c.2127A>T	c.(2125-2127)agA>agT	p.R709S	OAS2_ENST00000392583.2_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	709					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAAGCCATAGAATCCTGAATA	0.403																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000342315.4																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2125-2127)agA>agT		2'-5'-oligoadenylate synthetase 2, 69/71kDa							186.0	197.0	193.0					12																	113448256		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113448256A>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2127A>T	12.37:g.113448256A>T	ENSP00000342278:p.Arg709Ser					RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR	p.R709S	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN			11	2341	+			709					A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2127A>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	11.51	1.659441	0.29515	.	.	ENSG00000111335	ENST00000342315	T	0.06849	3.25	3.52	-6.98	0.01611	.	.	.	.	.	T	0.03783	0.0107	L	0.27053	0.805	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.31888	-0.9927	9	0.52906	T	0.07	.	0.49	0.00562	0.2697:0.147:0.2949:0.2884	.	709	P29728	OAS2_HUMAN	S	709	ENSP00000342278:R709S	ENSP00000342278:R709S	R	+	3	2	OAS2	111932639	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.670000	0.05256	-1.424000	0.01999	0.533000	0.62120	AGA		0.403	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			66	131	0	0	0	1	0	66	131				
MCF2L	23263	broad.mit.edu	37	13	113719371	113719371	+	Missense_Mutation	SNP	C	C	T	rs376965246		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr13:113719371C>T	ENST00000375608.3	+	8	876	c.818C>T	c.(817-819)gCg>gTg	p.A273V	MCF2L_ENST00000421756.1_Missense_Mutation_p.A247V|MCF2L_ENST00000375601.3_Missense_Mutation_p.A247V|MCF2L_ENST00000375597.4_Missense_Mutation_p.A241V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A241V|MCF2L_ENST00000397030.1_Missense_Mutation_p.A276V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A249V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A273V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A243V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A300V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	273					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTGCTGTGTGCGCACACAGAG	0.622																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(826-828)gCg>gTg		MCF.2 cell line derived transforming sequence-like		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	83.0	75.0	78.0		722,728	4.9	0.0	13		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MCF2L	NM_024979.4,NM_001112732.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	241/1124,243/1126	113719371	1,13005	2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113719371C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.818C>T	13.37:g.113719371C>T	ENSP00000364758:p.Ala273Val					MCF2L_ENST00000375601.3_Missense_Mutation_p.A247V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A243V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A300V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A241V|MCF2L_ENST00000375597.4_Missense_Mutation_p.A241V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A249V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A273V|MCF2L_ENST00000421756.1_Missense_Mutation_p.A247V|MCF2L_ENST00000375608.3_Missense_Mutation_p.A273V	p.A276V			O15068	MCF2L_HUMAN			7	864	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	273					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.827C>T		.	.	.	.	.	.	.	.	.	.	C	7.766	0.706475	0.15239	0.0	1.16E-4	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000423251;ENST00000440749	T;T;T;T;T;T;T;T;T;T;T	0.47177	2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;0.85	4.89	4.89	0.63831	.	0.294806	0.37261	N	0.002173	T	0.35393	0.0930	L	0.31294	0.92	0.09310	N	0.999993	B;B;B;B;B;B	0.18461	0.027;0.011;0.027;0.028;0.014;0.016	B;B;B;B;B;B	0.17722	0.012;0.012;0.019;0.008;0.016;0.008	T	0.13442	-1.0509	10	0.23302	T	0.38	.	13.4992	0.61445	0.0:0.9221:0.0:0.0779	.	241;243;300;205;241;273	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	V	273;273;300;276;243;243;247;247;249;241;241;163;84	ENSP00000364758:A273V;ENSP00000401422:A273V;ENSP00000364754:A300V;ENSP00000380225:A276V;ENSP00000440374:A243V;ENSP00000397285:A247V;ENSP00000364751:A247V;ENSP00000407722:A249V;ENSP00000405639:A241V;ENSP00000364747:A241V;ENSP00000405996:A163V	ENSP00000364747:A241V	A	+	2	0	MCF2L	112767372	0.001000	0.12720	0.017000	0.16124	0.024000	0.10985	1.385000	0.34408	2.265000	0.75225	0.655000	0.94253	GCG		0.622	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			3	53	0	0	0	1	0	3	53				
KCNH7	90134	broad.mit.edu	37	2	163241399	163241399	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr2:163241399G>T	ENST00000332142.5	-	13	2860	c.2761C>A	c.(2761-2763)Cag>Aag	p.Q921K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	921					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTGGAACTCTGATAATGTCTT	0.343																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2761-2763)Cag>Aag		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						165.0	157.0	160.0					2																	163241399		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163241399G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2761C>A	2.37:g.163241399G>T	ENSP00000331727:p.Gln921Lys						p.Q921K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			13	2860	-			921					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2761C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	4.174	0.030786	0.08101	.	.	ENSG00000184611	ENST00000332142	D	0.98437	-4.93	5.6	5.6	0.85130	.	0.351766	0.30969	N	0.008501	D	0.92773	0.7702	N	0.08118	0	0.80722	D	1	B	0.17667	0.023	B	0.14023	0.01	D	0.89417	0.3707	10	0.06757	T	0.87	.	12.8851	0.58038	0.0741:0.0:0.9259:0.0	.	921	Q9NS40	KCNH7_HUMAN	K	921	ENSP00000331727:Q921K	ENSP00000331727:Q921K	Q	-	1	0	KCNH7	162949645	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.212000	0.65225	2.650000	0.89964	0.655000	0.94253	CAG		0.343	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		33	58	1	0	7.11191e-15	1	8.03955e-15	33	58				
CDH4	1002	broad.mit.edu	37	20	60419780	60419780	+	Silent	SNP	C	C	T	rs527795069		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr20:60419780C>T	ENST00000360469.5	+	5	721	c.633C>T	c.(631-633)ggC>ggT	p.G211G	CDH4_ENST00000543233.1_Silent_p.G137G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	211	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGAGTGGGCGCCGACCAGC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18268	0.0		0.0	False		,,,				2504	0.001					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(631-633)ggC>ggT		cadherin 4, type 1, R-cadherin (retinal)							88.0	76.0	80.0					20																	60419780		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60419780C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.633C>T	20.37:g.60419780C>T						CDH4_ENST00000543233.1_Silent_p.G137G	p.G211G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		5	721	+			211			Cadherin 1.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.633C>T	CCDS13488.1																																																																																				0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		10	27	0	0	0	1	0	10	27				
KMT2C	58508	broad.mit.edu	37	7	151945083	151945083	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr7:151945083C>T	ENST00000262189.6	-	14	2654	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M812I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	812					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGTTGTTGGCATGATGTTTC	0.448																																						ENST00000355193.2																			0											c.(2434-2436)atG>atA		lysine (K)-specific methyltransferase 2C							425.0	377.0	393.0					7																	151945083		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945083C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2436G>A	7.37:g.151945083C>T	ENSP00000262189:p.Met812Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.M812I	p.M812I							14	2654	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2436G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627090|1.627090	0.28978|0.28978	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.82619	.|-1.63;-1.63	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.497489	.|0.16641	.|N	.|0.205640	T|T	0.70736|0.70736	0.3258|0.3258	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	T|T	0.62927|0.62927	-0.6750|-0.6750	5|10	.|0.15952	.|T	.|0.53	.|.	9.405|9.405	0.38455|0.38455	0.2476:0.61:0.1424:0.0|0.2476:0.61:0.1424:0.0	.|.	.|812	.|Q8NEZ4	.|MLL3_HUMAN	T|I	8|812	.|ENSP00000262189:M812I;ENSP00000347325:M812I	.|ENSP00000262189:M812I	A|M	-|-	1|3	0|0	MLL3|MLL3	151576016|151576016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.894000|1.894000	0.39768|0.39768	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			32	275	0	0	0	1	0	32	275				
TAF6L	10629	broad.mit.edu	37	11	62546423	62546423	+	Silent	SNP	G	G	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr11:62546423G>A	ENST00000294168.3	+	6	720	c.519G>A	c.(517-519)ccG>ccA	p.P173P	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	173					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GGGATGATCCGCAACTGATGA	0.473																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(517-519)ccG>ccA		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							143.0	120.0	128.0					11																	62546423		2201	4299	6500	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62546423G>A	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.519G>A	11.37:g.62546423G>A						TMEM223_ENST00000527073.1_Intron	p.P173P	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			6	720	+			173					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.519G>A	CCDS8035.1																																																																																				0.473	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		4	81	0	0	0	1	0	4	81				
MTUS1	57509	broad.mit.edu	37	8	17573324	17573324	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:17573324G>C	ENST00000262102.6	-	5	2760	c.2536C>G	c.(2536-2538)Cct>Gct	p.P846A	MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.P93A|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792A|MTUS1_ENST00000381869.3_Missense_Mutation_p.P792A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	846					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GATACCAAAGGCTTCAAATAA	0.433																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2374-2376)Cct>Gct		microtubule associated tumor suppressor 1							164.0	158.0	160.0					8																	17573324		1839	4087	5926	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17573324G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2536C>G	8.37:g.17573324G>C	ENSP00000262102:p.Pro846Ala					MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792A|MTUS1_ENST00000262102.6_Missense_Mutation_p.P846A|MTUS1_ENST00000381861.3_Missense_Mutation_p.P93A	p.P792A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	4	2847	-			846					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.2374C>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368811	0.42003	.	.	ENSG00000129422	ENST00000381869;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T	0.35789	3.22;2.39;1.29;3.22	4.85	3.95	0.45737	.	0.415027	0.24988	N	0.034010	T	0.34687	0.0906	M	0.63428	1.95	0.80722	D	1	B;B;B	0.29862	0.259;0.259;0.001	B;B;B	0.29176	0.099;0.099;0.008	T	0.19778	-1.0295	10	0.48119	T	0.1	-10.1446	10.1337	0.42693	0.0:0.1587:0.6976:0.1437	.	792;846;93	Q9ULD2-2;Q9ULD2;Q9ULD2-6	.;MTUS1_HUMAN;.	A	792;93;846;792	ENSP00000371293:P792A;ENSP00000371285:P93A;ENSP00000262102:P846A;ENSP00000430167:P792A	ENSP00000262102:P846A	P	-	1	0	MTUS1	17617604	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	2.114000	0.41911	1.313000	0.45069	0.655000	0.94253	CCT		0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		47	67	0	0	0	1	0	47	67				
MTMR4	9110	broad.mit.edu	37	17	56572509	56572509	+	Silent	SNP	C	C	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr17:56572509C>A	ENST00000323456.5	-	16	3118	c.2994G>T	c.(2992-2994)ctG>ctT	p.L998L	MTMR4_ENST00000579925.1_Silent_p.L941L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	998					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGGGCAGTTCAGTGGAACGG	0.507																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(2992-2994)ctG>ctT		myotubularin related protein 4							205.0	190.0	195.0					17																	56572509		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572509C>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2994G>T	17.37:g.56572509C>A						MTMR4_ENST00000579925.1_Silent_p.L941L	p.L998L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			16	3118	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		998					D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.2994G>T	CCDS11608.1																																																																																				0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		4	126	1	0	0.00909568	1	0.00945951	4	126				
CPT2	1376	broad.mit.edu	37	1	53679183	53679183	+	Silent	SNP	C	C	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr1:53679183C>A	ENST00000371486.3	+	5	2408	c.1893C>A	c.(1891-1893)cgC>cgA	p.R631R	RP5-1024G6.2_ENST00000452466.1_RNA|C1orf123_ENST00000470385.1_5'Flank	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	631			R -> C (in CPT2D; early-onset hepatocardiomuscular form). {ECO:0000269|PubMed:1528846}.		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ACCCAGGCCGCAATGCCCGGG	0.498																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1891-1893)cgC>cgA		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						131.0	116.0	121.0					1																	53679183		2203	4300	6503	SO:0001819	synonymous_variant	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53679183C>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1893C>A	1.37:g.53679183C>A						RP5-1024G6.2_ENST00000452466.1_RNA	p.R631R	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			5	2408	+			631		R -> C (in CPT2D; early-onset hepatocardiomuscular form).			B2R6S0|Q5SW68|Q9BQ26	Silent	SNP	ENST00000371486.3	37	c.1893C>A	CCDS575.1																																																																																				0.498	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		30	25	1	0	1.38854e-25	1	1.60454e-25	30	25				
ESRP1	54845	broad.mit.edu	37	8	95680237	95680237	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:95680237G>A	ENST00000433389.2	+	10	1182	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	ESRP1_ENST00000423620.2_Missense_Mutation_p.R331Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R331Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R331Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	331	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTCCGCATGCGGGGGCTCCCT	0.493																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(991-993)cGg>cAg		epithelial splicing regulatory protein 1							63.0	63.0	63.0					8																	95680237		1894	4102	5996	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95680237G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.992G>A	8.37:g.95680237G>A	ENSP00000405738:p.Arg331Gln					ESRP1_ENST00000423620.2_Missense_Mutation_p.R331Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R331Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R331Q	p.R331Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			10	1182	+			331			RRM 2.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.992G>A	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371982	0.95923	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.09723	2.95;2.95;2.95;3.31;2.95	5.78	4.9	0.64082	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.951;0.993;0.997;0.994;0.997;0.997	T	0.45086	-0.9285	10	0.87932	D	0	-7.254	14.5728	0.68224	0.0696:0.0:0.9304:0.0	.	331;331;331;331;331;331	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	Q	331;331;331;331;190	ENSP00000407349:R331Q;ENSP00000405738:R331Q;ENSP00000351168:R331Q;ENSP00000402766:R331Q;ENSP00000429125:R190Q	ENSP00000351168:R331Q	R	+	2	0	ESRP1	95749413	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.869000	0.99810	1.445000	0.47624	0.563000	0.77884	CGG		0.493	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		15	44	0	0	0	1	0	15	44				
FAT1	2195	broad.mit.edu	37	4	187540699	187540699	+	Silent	SNP	G	G	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr4:187540699G>A	ENST00000441802.2	-	10	7250	c.7041C>T	c.(7039-7041)acC>acT	p.T2347T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2347	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTAATCCAGGGTTCTGAGTA	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7039-7041)acC>acT		FAT atypical cadherin 1							148.0	151.0	150.0					4																	187540699		2122	4237	6359	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540699G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7041C>T	4.37:g.187540699G>A		HNSCC(5;0.00058)					p.T2347T	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7250	-			2347			Cadherin 21.			Silent	SNP	ENST00000441802.2	37	c.7041C>T	CCDS47177.1																																																																																				0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		56	87	0	0	0	1	0	56	87				
MYO1A	4640	broad.mit.edu	37	12	57435234	57435234	+	Silent	SNP	G	G	A	rs143507529	byFrequency	TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr12:57435234G>A	ENST00000442789.2	-	14	1433	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Silent_p.Y220Y|MYO1A_ENST00000300119.3_Silent_p.Y382Y	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	382	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTCAAAACCGTAGATATCAA	0.547													G|||	8	0.00159744	0.0061	0.0	5008	,	,		20294	0.0		0.0	False		,,,				2504	0.0					ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1144-1146)taC>taT		myosin IA		G		7,4399	12.9+/-30.5	0,7,2196	154.0	144.0	147.0		1146	-1.1	1.0	12	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous	MYO1A	NM_005379.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		382/1044	57435234	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57435234G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1146C>T	12.37:g.57435234G>A						MYO1A_ENST00000544473.1_Silent_p.Y220Y|MYO1A_ENST00000300119.3_Silent_p.Y382Y	p.Y382Y	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			14	1433	-			382			Myosin head-like.		Q9UQD7	Silent	SNP	ENST00000442789.2	37	c.1146C>T	CCDS8929.1																																																																																				0.547	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		40	61	0	0	0	1	0	40	61				
SECISBP2L	9728	broad.mit.edu	37	15	49288743	49288743	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr15:49288743C>T	ENST00000559471.1	-	17	2707	c.2444G>A	c.(2443-2445)aGg>aAg	p.R815K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R770K|Y_RNA_ENST00000384377.1_RNA	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	815							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATATGCTTTCCTGGCCTCCTC	0.378																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2443-2445)aGg>aAg		SECIS binding protein 2-like							201.0	194.0	196.0					15																	49288743		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49288743C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2444G>A	15.37:g.49288743C>T	ENSP00000453854:p.Arg815Lys					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R770K	p.R815K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			17	2707	-			815					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2444G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262285	0.95368	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.93604	-3.25	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	L	0.29908	0.895	0.54753	D	0.999986	D;D	0.71674	0.997;0.998	D;D	0.77557	0.978;0.99	D	0.95035	0.8173	10	0.59425	D	0.04	.	18.3573	0.90362	0.0:1.0:0.0:0.0	.	815;770	Q93073;Q93073-2	SBP2L_HUMAN;.	K	770;815	ENSP00000261847:R770K	ENSP00000261847:R770K	R	-	2	0	SECISBP2L	47076035	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.300000	0.78841	2.569000	0.86673	0.650000	0.86243	AGG		0.378	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		44	74	0	0	0	1	0	44	74				
ADCY3	109	broad.mit.edu	37	2	25064144	25064144	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr2:25064144delT	ENST00000260600.5	-	5	2031	c.1180delA	c.(1180-1182)atgfs	p.M394fs	ADCY3_ENST00000405392.1_Frame_Shift_Del_p.M5fs	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	394					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCTCCACCATGGCCAGCCCC	0.657																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1180-1182)tgfs		adenylate cyclase 3							31.0	33.0	32.0					2																	25064144		2188	4286	6474	SO:0001589	frameshift_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25064144delT	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1180delA	2.37:g.25064144delT	ENSP00000260600:p.Met394fs					ADCY3_ENST00000405392.1_Frame_Shift_Del_p.M5fs	p.M394fs	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			5	2031	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		394					B3KT86|Q53T54|Q9UDB1	Frame_Shift_Del	DEL	ENST00000260600.5	37	c.1180delA	CCDS1715.1																																																																																				0.657	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			2	4						2	4	---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)gatfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1345-1347)tfs		cell division cycle 25A																																				SO:0001589	frameshift_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200922_48200923delTC	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1345_1346delGA	3.37:g.48200932_48200933delTC	ENSP00000303706:p.Asp449fs					CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	p.D449fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1753_1754	-			449			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Frame_Shift_Del	DEL	ENST00000302506.3	37	c.1345_1346delGA	CCDS2760.1																																																																																				0.515	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		7	82						7	82	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18432657	18432665	+	In_Frame_Del	DEL	CCCTCCAGT	CCCTCCAGT	-	rs575649317		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:18432657_18432665delCCCTCCAGT	ENST00000327040.8	-	13	2714_2722	c.2612_2620delACTGGAGGG	c.(2611-2622)gactggagggtc>gtc	p.DWR871del	PSD3_ENST00000428502.2_In_Frame_Del_p.DWR200del|PSD3_ENST00000440756.2_In_Frame_Del_p.DWR873del|PSD3_ENST00000286485.8_In_Frame_Del_p.DWR337del|PSD3_ENST00000523619.1_In_Frame_Del_p.DWR806del	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	872	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AAAAGCAAGACCCTCCAGTCGGCAGTTTT	0.397																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2617-2628)gtc>g		pleckstrin and Sec7 domain containing 3																																				SO:0001651	inframe_deletion	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18432657_18432665delCCCTCCAGT	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2612_2620delACTGGAGGG	8.37:g.18432657_18432665delCCCTCCAGT	ENSP00000324127:p.Asp871_Arg873del					PSD3_ENST00000327040.8_In_Frame_Del_p.DWRV871del|PSD3_ENST00000428502.2_In_Frame_Del_p.DWRV200del|PSD3_ENST00000286485.8_In_Frame_Del_p.DWRV337del|PSD3_ENST00000523619.1_In_Frame_Del_p.DWRV806del	p.DWRV873del			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	13	2720_2728	-			872			PH.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	In_Frame_Del	DEL	ENST00000327040.8	37	c.2618_2626delACTGGAGGG	CCDS43720.1																																																																																				0.397	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		13	90						13	90	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.e2-2		zinc finger protein 658																																				SO:0001630	splice_region_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40789482_40789483insA	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.201-2->T	9.37:g.40789493_40789493dupA						ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron				Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	2	94	-								Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Splice_Site	INS	ENST00000602553.1	37		CCDS35023.1																																																																																				0.426	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	Intron	2	4						2	4	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105191973	105191974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr10:105191973_105191974insA	ENST00000369797.3	+	22	3550_3551	c.3456_3457insA	c.(3457-3459)actfs	p.T1153fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1153	S1 motif 10. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCCAGACTGTTACTTGCTTCTT	0.446																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3454-3459)gtcttgfs		programmed cell death 11																																				SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105191973_105191974insA	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3457dupA	10.37:g.105191974_105191974dupA	ENSP00000358812:p.Thr1153fs						p.VL1152fs	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	22	3550_3551	+		Colorectal(252;0.0747)|Breast(234;0.128)	1152			S1 motif 10.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Ins	INS	ENST00000369797.3	37	c.3456_3457insA	CCDS31276.1																																																																																				0.446	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			41	55						41	55	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs376717445|rs199682553|rs112820043|rs11197776	byFrequency	TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr10:118396277_118396278insT	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													-|-|T|insertion	732	0.146166	0.0136	0.1686	5008	,	,		20647	0.3413		0.1252	False		,,,				2504	0.1299					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277_118396278insT	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277_118396278insT						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.421	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		6	4						6	4	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	6						3	6	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			2	4						2	4	---	---	---	---
