#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
CCDC43	124808	broad.mit.edu	37	17	42757964	42757964	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:42757964C>T	ENST00000315286.8	-	4	484	c.476G>A	c.(475-477)gGt>gAt	p.G159D	C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.G162D|CCDC43_ENST00000457422.2_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	159										lung(2)	2		Prostate(33;0.0322)				TTTGTCAGAACCAATGTTCAT	0.433																																						ENST00000315286.8																			0				lung(2)	2						c.(475-477)gGt>gAt		coiled-coil domain containing 43							193.0	190.0	191.0					17																	42757964		1950	4161	6111	SO:0001583	missense	124808							g.chr17:42757964C>T	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.476G>A	17.37:g.42757964C>T	ENSP00000323782:p.Gly159Asp					C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000457422.2_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.G162D	p.G159D	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN			4	484	-		Prostate(33;0.0322)	159					C9JVK9	Missense_Mutation	SNP	ENST00000315286.8	37	c.476G>A	CCDS45704.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.418900	0.62622	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.06	6.06	0.98353	.	0.509221	0.21926	N	0.067089	T	0.57080	0.2029	L	0.41710	1.295	0.39483	D	0.967924	B	0.18610	0.029	B	0.13407	0.009	T	0.51325	-0.8720	9	0.42905	T	0.14	-9.135	18.4128	0.90558	0.0:1.0:0.0:0.0	.	159	Q96MW1	CCD43_HUMAN	D	159	.	ENSP00000323782:G159D	G	-	2	0	CCDC43	40113490	0.314000	0.24563	0.994000	0.49952	0.936000	0.57629	1.807000	0.38902	2.880000	0.98712	0.650000	0.86243	GGT		0.433	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		6	519	0	0	0	1	0	6	519				
COG6	57511	broad.mit.edu	37	13	40293931	40293931	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:40293931C>A	ENST00000455146.3	+	15	1601	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L	COG6_ENST00000416691.1_Missense_Mutation_p.F517L	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	517					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TATTTGAATTCACTGACAGAC	0.348																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1549-1551)ttC>ttA		component of oligomeric golgi complex 6							93.0	88.0	90.0					13																	40293931		2203	4299	6502	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40293931C>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1551C>A	13.37:g.40293931C>A	ENSP00000397441:p.Phe517Leu					COG6_ENST00000455146.3_Missense_Mutation_p.F517L	p.F517L	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	15	1651	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	517					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.1551C>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534911	0.85812	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.56275	0.47;0.47	5.36	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.85777	2.775	0.80722	D	1	D;D	0.67145	0.996;0.985	D;P	0.63381	0.914;0.873	T	0.70722	-0.4794	10	0.41790	T	0.15	-31.3845	10.4589	0.44567	0.0:0.8468:0.0:0.1532	.	538;517	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	L	517;548;517	ENSP00000403733:F517L;ENSP00000397441:F517L	ENSP00000255468:F548L	F	+	3	2	COG6	39191931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.407000	0.34657	2.661000	0.90470	0.655000	0.94253	TTC		0.348	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			55	388	1	0	1.67886e-27	1	1.85194e-27	55	388				
KIF27	55582	broad.mit.edu	37	9	86498835	86498835	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:86498835T>A	ENST00000297814.2	-	10	2481	c.2338A>T	c.(2338-2340)Aag>Tag	p.K780*	KIF27_ENST00000376347.1_Nonsense_Mutation_p.K171*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.K780*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.K780*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	780					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTAGCTGCTTTTGTGTTTCA	0.388																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(2338-2340)Aag>Tag		kinesin family member 27							154.0	141.0	146.0					9																	86498835		2203	4299	6502	SO:0001587	stop_gained	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86498835T>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2338A>T	9.37:g.86498835T>A	ENSP00000297814:p.Lys780*					KIF27_ENST00000334204.2_Nonsense_Mutation_p.K780*|KIF27_ENST00000376347.1_Nonsense_Mutation_p.K171*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.K780*	p.K780*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			10	2481	-			780					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Nonsense_Mutation	SNP	ENST00000297814.2	37	c.2338A>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	40	8.370270	0.98781	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	.	.	.	5.36	5.36	0.76844	.	0.093400	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3543	0.74415	0.0:0.0:0.0:1.0	.	.	.	.	X	780;780;780;171	.	ENSP00000297814:K780X	K	-	1	0	KIF27	85688655	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	3.791000	0.55469	2.022000	0.59522	0.477000	0.44152	AAG		0.388	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		26	535	0	0	0	1	0	26	535				
PKD1	5310	broad.mit.edu	37	16	2150516	2150516	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:2150516C>T	ENST00000262304.4	-	27	9657	c.9449G>A	c.(9448-9450)gGc>gAc	p.G3150D	PKD1_ENST00000423118.1_Missense_Mutation_p.G3150D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3150	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGCCGGTGGCCGCTCCGGCT	0.672																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(9448-9450)gGc>gAc		polycystic kidney disease 1 (autosomal dominant)							30.0	29.0	29.0					16																	2150516		2194	4286	6480	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2150516C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9449G>A	16.37:g.2150516C>T	ENSP00000262304:p.Gly3150Asp					PKD1_ENST00000423118.1_Missense_Mutation_p.G3150D	p.G3150D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			27	9657	-			3150			PLAT.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.9449G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579605	0.86645	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.66280	-0.2;-0.2	4.49	4.49	0.54785	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.054327	0.64402	D	0.000001	T	0.77356	0.4118	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75374	-0.3340	10	0.28530	T	0.3	.	17.3723	0.87382	0.0:1.0:0.0:0.0	.	3150;3150	P98161-3;P98161	.;PKD1_HUMAN	D	3150;3150;2485	ENSP00000262304:G3150D;ENSP00000399501:G3150D	ENSP00000262304:G3150D	G	-	2	0	PKD1	2090517	1.000000	0.71417	0.996000	0.52242	0.760000	0.43138	7.193000	0.77780	2.326000	0.78906	0.555000	0.69702	GGC		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	119	0	0	0	1	0	4	119				
SPNS2	124976	broad.mit.edu	37	17	4436651	4436651	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4436651C>T	ENST00000329078.3	+	8	1412	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	401					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGTGTGTGCCGTGGGCATG	0.642																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(1201-1203)gCc>gTc		spinster homolog 2 (Drosophila)							43.0	43.0	43.0					17																	4436651		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4436651C>T	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1202C>T	17.37:g.4436651C>T	ENSP00000333292:p.Ala401Val						p.A401V	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			8	1412	+			401					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.1202C>T	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	c	35	5.572813	0.96553	.	.	ENSG00000183018	ENST00000329078	T	0.58652	0.32	4.72	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81536	-0.0888	10	0.87932	D	0	.	16.2505	0.82481	0.0:1.0:0.0:0.0	.	401	Q8IVW8	SPNS2_HUMAN	V	401	ENSP00000333292:A401V	ENSP00000333292:A401V	A	+	2	0	SPNS2	4383400	1.000000	0.71417	0.956000	0.39512	0.972000	0.66771	7.815000	0.86186	2.161000	0.67846	0.486000	0.48141	GCC		0.642	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			4	181	0	0	0	1	0	4	181				
MEGF8	1954	broad.mit.edu	37	19	42860499	42860499	+	Missense_Mutation	SNP	C	C	T	rs142361779	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:42860499C>T	ENST00000251268.6	+	26	4516	c.4516C>T	c.(4516-4518)Cgc>Tgc	p.R1506C	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1439C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1506					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACTGCCAGCCGCTTCCTGCA	0.652																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(4315-4317)Cgc>Tgc		multiple EGF-like-domains 8		C	CYS/ARG	2,4404	2.1+/-5.4	0,2,2201	42.0	36.0	38.0		4315	5.0	1.0	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF8	NM_001410.2	180	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	1439/2779	42860499	3,13003	2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42860499C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4516C>T	19.37:g.42860499C>T	ENSP00000251268:p.Arg1506Cys					MEGF8_ENST00000251268.6_Missense_Mutation_p.R1506C	p.R1439C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			25	4950	+		Prostate(69;0.00682)	1506			EGF-like 4.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4315C>T		.	.	.	.	.	.	.	.	.	.	C	19.14	3.770638	0.69992	4.54E-4	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66460	-0.21;-0.21	5.02	5.02	0.67125	Galactose oxidase/kelch, beta-propeller (1);	0.000000	0.64402	D	0.000002	T	0.76535	0.4001	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.967	T	0.79037	-0.1967	10	0.72032	D	0.01	-31.8929	17.1145	0.86685	0.0:1.0:0.0:0.0	.	1506;1439	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	C	1439;1506	ENSP00000334219:R1439C;ENSP00000251268:R1506C	ENSP00000251268:R1506C	R	+	1	0	MEGF8	47552339	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.395000	0.59678	2.345000	0.79718	0.557000	0.71058	CGC		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		15	84	0	0	0	1	0	15	84				
EPHB3	2049	broad.mit.edu	37	3	184294634	184294634	+	Silent	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:184294634G>T	ENST00000330394.2	+	5	1469	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	339	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCACAGCCGTGCCATCTCCAC	0.587																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1015-1017)gtG>gtT		EPH receptor B3							68.0	67.0	67.0					3																	184294634		2202	4293	6495	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294634G>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1017G>T	3.37:g.184294634G>T						EIF2B5_ENST00000444495.1_Intron	p.V339V	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1469	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		339					Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1017G>T	CCDS3268.1																																																																																				0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		27	174	1	0	7.38237e-10	1	7.89913e-10	27	174				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	724	0	0	0	1	0	7	724				
ROBO2	6092	broad.mit.edu	37	3	77684144	77684144	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:77684144G>A	ENST00000461745.1	+	24	4784	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.R1356Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R1311Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1295					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGAGGGCGGATGGACCAA	0.517																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3883-3885)cGg>cAg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							104.0	107.0	106.0					3																	77684144		1981	4156	6137	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77684144G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3884G>A	3.37:g.77684144G>A	ENSP00000417164:p.Arg1295Gln					ROBO2_ENST00000487694.3_Missense_Mutation_p.R1311Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1356Q	p.R1295Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	24	4784	+			1295					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3884G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346305	0.61073	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.63096	0.01;0.05;-0.02	5.34	4.45	0.53987	.	0.224186	0.21846	N	0.068253	T	0.34832	0.0911	N	0.08118	0	0.28032	N	0.934087	B;P;B	0.46327	0.196;0.876;0.196	B;B;B	0.28784	0.016;0.094;0.016	T	0.54227	-0.8325	9	0.36615	T	0.2	.	14.9245	0.70866	0.0725:0.0:0.9275:0.0	.	1311;1356;1295	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	1311;1311;1295;1356	ENSP00000417335:R1311Q;ENSP00000417164:R1295Q;ENSP00000327536:R1356Q	ENSP00000327536:R1356Q	R	+	2	0	ROBO2	77766834	0.998000	0.40836	0.981000	0.43875	0.987000	0.75469	4.160000	0.58164	2.664000	0.90586	0.650000	0.86243	CGG		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		38	137	0	0	0	1	0	38	137				
PTX4	390667	broad.mit.edu	37	16	1537593	1537593	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:1537593G>A	ENST00000447419.2	-	2	545	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PTX4_ENST00000293922.1_Missense_Mutation_p.R169W|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	174						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACGGGCAGCCGCCCCTCCAGA	0.721																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(520-522)Cgg>Tgg		pentraxin 4, long							11.0	13.0	12.0					16																	1537593		2163	4220	6383	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537593G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.520C>T	16.37:g.1537593G>A	ENSP00000445277:p.Arg174Trp					PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.R169W	p.R174W			Q96A99	PTX4_HUMAN			2	545	-			174						Missense_Mutation	SNP	ENST00000447419.2	37	c.520C>T		.	.	.	.	.	.	.	.	.	.	G	9.721	1.159636	0.21454	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05996	3.52;3.36	5.28	0.783	0.18572	.	2.155680	0.01935	N	0.041519	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39165	-0.9627	10	0.42905	T	0.14	.	6.0711	0.19889	0.2607:0.0:0.608:0.1313	.	169	Q96A99-2	.	W	174;169	ENSP00000445277:R174W;ENSP00000293922:R169W	ENSP00000293922:R169W	R	-	1	2	PTX4	1477594	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.388000	0.20735	-0.209000	0.10156	-2.067000	0.00394	CGG		0.721	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		8	41	0	0	0	1	0	8	41				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	400	0	0	0	1	0	5	400				
CPNE2	221184	broad.mit.edu	37	16	57157386	57157386	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57157386G>A	ENST00000535318.2	+	11	1288		c.e11+1		CPNE2_ENST00000565874.1_Splice_Site|CPNE2_ENST00000290776.8_Splice_Site|CPNE2_ENST00000537605.1_Splice_Site			Q96FN4	CPNE2_HUMAN	copine II							extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATGTTCACCGTAAGGCTCTC	0.577																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.e11+1		copine II							114.0	96.0	102.0					16																	57157386		2198	4300	6498	SO:0001630	splice_region_variant	221184							g.chr16:57157386G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.927+1G>A	16.37:g.57157386G>A						CPNE2_ENST00000537605.1_Splice_Site|CPNE2_ENST00000290776.8_Splice_Site|CPNE2_ENST00000565874.1_Splice_Site				Q96FN4	CPNE2_HUMAN			11	1288	+		all_neural(199;0.224)						Q68D19|Q719H8|Q86XP9	Splice_Site	SNP	ENST00000535318.2	37		CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493625	0.64186	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6008	0.91247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPNE2	55714887	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	9.789000	0.99068	2.456000	0.83038	0.561000	0.74099	.		0.577	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727	Intron	5	285	0	0	0	1	0	5	285				
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2263-2265)Cgc>Tgc		teashirt zinc finger homeobox 2							93.0	90.0	91.0					20																	51872260		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872260C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2263C>T	20.37:g.51872260C>T	ENSP00000360552:p.Arg755Cys					TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C	p.R755C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3150	+			755					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2263C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992826	0.35131	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.50277	0.75;0.75	5.23	5.23	0.72850	.	0.475787	0.23196	N	0.050846	T	0.43144	0.1234	M	0.68317	2.08	0.34997	D	0.755567	P	0.49358	0.923	B	0.34452	0.183	T	0.65709	-0.6102	10	0.87932	D	0	-5.9641	13.7395	0.62838	0.1538:0.8461:0.0:0.0	.	755	Q9NRE2	TSH2_HUMAN	C	755;752;281	ENSP00000360552:R755C;ENSP00000333114:R752C	ENSP00000333114:R752C	R	+	1	0	TSHZ2	51305667	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.499000	0.53310	2.438000	0.82558	0.579000	0.79373	CGC		0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		59	286	0	0	0	1	0	59	286				
MUC4	4585	broad.mit.edu	37	3	195509717	195509717	+	Missense_Mutation	SNP	G	G	T	rs201054395		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:195509717G>T	ENST00000463781.3	-	2	9193	c.8734C>A	c.(8734-8736)Cct>Act	p.P2912T	MUC4_ENST00000475231.1_Missense_Mutation_p.P2912T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGCGTGGTGTCA	0.587																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(8734-8736)Cct>Act		mucin 4, cell surface associated							13.0	9.0	11.0					3																	195509717		673	1527	2200	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195509717G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8734C>A	3.37:g.195509717G>T	ENSP00000417498:p.Pro2912Thr					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2912T|MUC4_ENST00000346145.4_Intron	p.P2912T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	9193	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	662					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.8734C>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	4.766	0.142394	0.09083	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30981	1.53;1.51	.	.	.	.	.	.	.	.	T	0.15435	0.0372	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.29088	-1.0023	7	.	.	.	.	4.6597	0.12636	0.0:0.0:1.0:0.0	.	2784	E7ESK3	.	T	2912	ENSP00000417498:P2912T;ENSP00000420243:P2912T	.	P	-	1	0	MUC4	196994496	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.018000	0.12568	-0.000000	0.14550	0.000000	0.15137	CCT		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	10	1	0	3.59834e-05	1	3.73808e-05	3	10				
LEPREL2	10536	broad.mit.edu	37	12	6940383	6940383	+	RNA	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:6940383G>A	ENST00000538102.1	+	0	207				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCAGTGGGCAATCTGTCC	0.567																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							121.0	123.0	122.0					12																	6940383		1979	4167	6146			10536							g.chr12:6940383G>A	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6940383G>A						LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA		NM_014262.3	NP_055077.2					0	1022	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37			.	.	.	.	.	.	.	.	.	.	G	19.39	3.819217	0.71028	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.67865	0.73;-0.29	5.47	4.58	0.56647	Tetratricopeptide-like helical (1);	0.101917	0.64402	D	0.000002	T	0.78910	0.4358	.	.	.	0.58432	D	0.999997	D	0.76494	0.999	D	0.65573	0.936	T	0.80362	-0.1414	9	0.62326	D	0.03	.	10.2943	0.43613	0.1501:0.0:0.8499:0.0	.	330	Q8IVL6	P3H3_HUMAN	D	329;145	ENSP00000379951:G329D;ENSP00000290510:G145D	ENSP00000290510:G145D	G	+	2	0	LEPREL2	6810644	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.566000	0.67372	1.308000	0.44962	0.491000	0.48974	GGC		0.567	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		5	457	0	0	0	1	0	5	457				
CACNA1I	8911	broad.mit.edu	37	22	40075258	40075258	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:40075258C>T	ENST00000402142.3	+	32	5202	c.5202C>T	c.(5200-5202)gaC>gaT	p.D1734D	CACNA1I_ENST00000336649.4_Silent_p.D1740D|CACNA1I_ENST00000407673.1_Silent_p.D1699D|CACNA1I_ENST00000401624.1_Silent_p.D1734D|CACNA1I_ENST00000404898.1_Silent_p.D1699D|CACNA1I_ENST00000400164.3_Silent_p.D1699D	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1734					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCACCTGGACGACAGCAACA	0.642																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5218-5220)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						27.0	31.0	30.0					22																	40075258		2168	4250	6418	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40075258C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5202C>T	22.37:g.40075258C>T						CACNA1I_ENST00000407673.1_Silent_p.D1699D|CACNA1I_ENST00000404898.1_Silent_p.D1699D|CACNA1I_ENST00000402142.3_Silent_p.D1734D|CACNA1I_ENST00000401624.1_Silent_p.D1734D|CACNA1I_ENST00000400164.3_Silent_p.D1699D	p.D1740D			Q9P0X4	CAC1I_HUMAN			35	5220	+	Melanoma(58;0.0749)		1734					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.5220C>T	CCDS46710.1																																																																																				0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		9	39	0	0	0	1	0	9	39				
CASC1	55259	broad.mit.edu	37	12	25260900	25260900	+	IGR	SNP	C	C	T	rs116094067		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:25260900C>T	ENST00000320267.9	-	0	2361				LRMP_ENST00000547044.1_Missense_Mutation_p.A469V|LRMP_ENST00000354454.3_Missense_Mutation_p.A469V|LRMP_ENST00000548766.1_Missense_Mutation_p.A469V	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTGTGGATGCCGCTCCCACA	0.498																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1405-1407)gCc>gTc		lymphoid-restricted membrane protein							118.0	112.0	114.0					12																	25260900		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25260900C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260900C>T						LRMP_ENST00000547044.1_Missense_Mutation_p.A469V|LRMP_ENST00000548766.1_Missense_Mutation_p.A469V	p.A469V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			21	2235	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		525					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1406C>T	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908876	0.72868	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.53	4.63	0.57726	.	0.130731	0.50627	D	0.000120	T	0.40067	0.1102	M	0.71581	2.175	0.48632	D	0.99968	D	0.76494	0.999	D	0.72982	0.979	T	0.27157	-1.0082	10	0.59425	D	0.04	-14.0401	13.5703	0.61843	0.0:0.7021:0.2979:0.0	.	525	Q12912	LRMP_HUMAN	V	469;416;469;469	ENSP00000346442:A469V;ENSP00000444056:A416V;ENSP00000446496:A469V;ENSP00000450246:A469V	ENSP00000346442:A469V	A	+	2	0	LRMP	25152167	0.999000	0.42202	0.235000	0.24058	0.633000	0.38033	4.579000	0.60936	1.298000	0.44778	0.557000	0.71058	GCC		0.498	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		6	471	0	0	0	1	0	6	471				
NLRC5	84166	broad.mit.edu	37	16	57074566	57074566	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57074566G>A	ENST00000262510.6	+	17	3100	c.2875G>A	c.(2875-2877)Gca>Aca	p.A959T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A959T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A959T|NLRC5_ENST00000436936.1_Missense_Mutation_p.A959T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	959					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCAGGGCTGCATTTCTTGA	0.587																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(2875-2877)Gca>Aca		NLR family, CARD domain containing 5							121.0	99.0	107.0					16																	57074566		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57074566G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2875G>A	16.37:g.57074566G>A	ENSP00000262510:p.Ala959Thr					NLRC5_ENST00000262510.6_Missense_Mutation_p.A959T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A959T|NLRC5_ENST00000539144.1_Missense_Mutation_p.A959T	p.A959T			Q86WI3	NLRC5_HUMAN			17	3100	+		all_neural(199;0.225)	959					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2875G>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.245915|2.245915	0.39697|0.39697	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.73152|.	-0.57;-0.59;-0.72;-0.59;2.4;2.25|.	3.62|3.62	-0.785|-0.785	0.10950|0.10950	.|.	.|.	.|.	.|.	.|.	T|T	0.22820|0.22820	0.0551|0.0551	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.21147|.	0.024;0.024;0.052;0.017|.	B;B;B;B|.	0.19148|.	0.01;0.011;0.024;0.017|.	T|T	0.26710|0.26710	-1.0095|-1.0095	9|5	0.15066|.	T|.	0.55|.	.|.	3.4484|3.4484	0.07488|0.07488	0.3802:0.1998:0.42:0.0|0.3802:0.1998:0.42:0.0	.|.	959;959;959;959|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	T|Y	959;959;959;433;959;466;258|711	ENSP00000262510:A959T;ENSP00000308886:A959T;ENSP00000389739:A959T;ENSP00000441727:A959T;ENSP00000441597:A466T;ENSP00000440153:A258T|.	ENSP00000262510:A959T|.	A|C	+|+	1|2	0|0	NLRC5|NLRC5	55632067|55632067	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.196000|0.196000	0.23810|0.23810	0.206000|0.206000	0.17375|0.17375	-0.109000|-0.109000	0.12044|0.12044	-0.259000|-0.259000	0.10710|0.10710	GCA|TGC		0.587	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		5	239	0	0	0	1	0	5	239				
ZNF32	7580	broad.mit.edu	37	10	44139613	44139613	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:44139613C>T	ENST00000395797.1	-	3	895	c.707G>A	c.(706-708)gGc>gAc	p.G236D	ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G236D|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GTGGATTTTGCCATGCAGAAT	0.532																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(706-708)gGc>gAc		zinc finger protein 32							89.0	89.0	89.0					10																	44139613		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139613C>T	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.707G>A	10.37:g.44139613C>T	ENSP00000379143:p.Gly236Asp					ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G236D	p.G236D	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	895	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	236					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.707G>A	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107138	0.37145	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07444	3.19;3.19	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135771	0.34411	N	0.003995	T	0.08044	0.0201	L	0.37750	1.13	0.33588	D	0.60073	B	0.15930	0.015	B	0.22880	0.042	T	0.02766	-1.1113	10	0.87932	D	0	-4.6653	8.9989	0.36069	0.0:0.9032:0.0:0.0968	.	236	P17041	ZNF32_HUMAN	D	236	ENSP00000363556:G236D;ENSP00000379143:G236D	ENSP00000363556:G236D	G	-	2	0	ZNF32	43459619	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.715000	0.25822	2.876000	0.98609	0.655000	0.94253	GGC		0.532	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		4	222	0	0	0	1	0	4	222				
RYR1	6261	broad.mit.edu	37	19	38976333	38976333	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:38976333G>A	ENST00000359596.3	+	34	5038	c.5038G>A	c.(5038-5040)Gtg>Atg	p.V1680M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1680M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1680M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1680	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAACAATCGCGTGGCGCACGC	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5038-5040)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						47.0	46.0	47.0					19																	38976333		2203	4298	6501	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976333G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5038G>A	19.37:g.38976333G>A	ENSP00000352608:p.Val1680Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V1680M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1680M	p.V1680M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5169	+	all_cancers(60;7.91e-06)		1680			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5038G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731538	0.69189	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98150	-4.75;-4.75;-4.75	4.07	4.07	0.47477	.	0.190439	0.31872	U	0.006936	D	0.98642	0.9545	M	0.83603	2.65	0.47153	D	0.999332	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99758	1.1020	10	0.87932	D	0	.	16.0625	0.80847	0.0:0.0:1.0:0.0	.	1680;1680	P21817-2;P21817	.;RYR1_HUMAN	M	1680	ENSP00000352608:V1680M;ENSP00000347667:V1680M;ENSP00000354254:V1680M	ENSP00000347667:V1680M	V	+	1	0	RYR1	43668173	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.556000	0.98127	2.096000	0.63516	0.650000	0.86243	GTG		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			58	247	0	0	0	1	0	58	247				
MAATS1	89876	broad.mit.edu	37	3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	164						mitochondrion (GO:0005739)											GTTGTTTATGCCGTATCCAAG	0.328																																						ENST00000273390.5																			0											c.(490-492)gCc>gTc		MYCBP-associated, testis expressed 1							205.0	201.0	203.0					3																	119428733		2202	4300	6502	SO:0001583	missense	89876							g.chr3:119428733C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.491C>T	3.37:g.119428733C>T	ENSP00000273390:p.Ala164Val					MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	p.A164V	NM_033364.3	NP_203528.2					5	568	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.491C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758185	0.15846	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.50813	1.72;0.73	5.34	4.46	0.54185	.	0.368951	0.29417	N	0.012220	T	0.46092	0.1375	L	0.47716	1.5	0.34195	D	0.672468	B;P;B;P;B	0.39480	0.291;0.604;0.113;0.675;0.383	B;B;B;B;B	0.42771	0.316;0.397;0.062;0.298;0.116	T	0.58340	-0.7653	10	0.30078	T	0.28	-10.2043	14.624	0.68608	0.1473:0.8527:0.0:0.0	.	164;102;164;164;164	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	V	164	ENSP00000273390:A164V;ENSP00000419489:A164V	ENSP00000273390:A164V	A	+	2	0	C3orf15	120911423	0.211000	0.23529	0.517000	0.27799	0.473000	0.32948	1.353000	0.34045	1.372000	0.46190	0.655000	0.94253	GCC		0.328	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		5	479	0	0	0	1	0	5	479				
LRP6	4040	broad.mit.edu	37	12	12284920	12284920	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:12284920G>A	ENST00000261349.4	-	18	3881	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	LRP6_ENST00000543091.1_Intron|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1269	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCATCGCACCGCCAAGCCACA	0.483																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3805-3807)Cgg>Tgg		low density lipoprotein receptor-related protein 6							94.0	85.0	88.0					12																	12284920		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12284920G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3805C>T	12.37:g.12284920G>A	ENSP00000261349:p.Arg1269Trp					LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron|BCL2L14_ENST00000396369.1_Intron	p.R1269W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			18	3881	-		Prostate(47;0.0865)	1269			LDL-receptor class A 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3805C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726908	0.69074	.	.	ENSG00000070018	ENST00000261349	D	0.95980	-3.87	5.92	1.86	0.25419	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.56097	D	0.000024	D	0.96914	0.8992	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96190	0.9137	10	0.52906	T	0.07	.	15.8612	0.79021	0.0:0.0:0.5352:0.4648	.	1269	O75581	LRP6_HUMAN	W	1269	ENSP00000261349:R1269W	ENSP00000261349:R1269W	R	-	1	2	LRP6	12176187	1.000000	0.71417	0.958000	0.39756	0.805000	0.45488	2.391000	0.44424	0.378000	0.24764	-0.182000	0.12963	CGG		0.483	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			5	251	0	0	0	1	0	5	251				
FGFR4	2264	broad.mit.edu	37	5	176523645	176523645	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr5:176523645G>A	ENST00000292408.4	+	16	2301	c.2056G>A	c.(2056-2058)Ggg>Agg	p.G686R	FGFR4_ENST00000393637.1_Missense_Mutation_p.G646R|FGFR4_ENST00000292410.3_Missense_Mutation_p.G646R|FGFR4_ENST00000502906.1_Missense_Mutation_p.G686R|FGFR4_ENST00000393648.2_Missense_Mutation_p.G618R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	686	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CTTCACCCTCGGGGGCTCCCC	0.667										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(2056-2058)Ggg>Agg		fibroblast growth factor receptor 4	Palifermin(DB00039)						75.0	74.0	74.0					5																	176523645		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176523645G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2056G>A	5.37:g.176523645G>A	ENSP00000292408:p.Gly686Arg	TSP Lung(9;0.080)				FGFR4_ENST00000502906.1_Missense_Mutation_p.G686R|FGFR4_ENST00000393648.2_Missense_Mutation_p.G618R|FGFR4_ENST00000393637.1_Missense_Mutation_p.G646R|FGFR4_ENST00000292410.3_Missense_Mutation_p.G646R	p.G686R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2301	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	686			Protein kinase.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.2056G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	g	28.1	4.892229	0.91889	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	4.19	4.19	0.49359	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97231	0.9884	10	0.87932	D	0	.	16.1407	0.81519	0.0:0.0:1.0:0.0	.	618;646;686	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	R	686;618;686;646;646;914	ENSP00000292408:G686R;ENSP00000377259:G618R;ENSP00000424960:G686R;ENSP00000292410:G646R;ENSP00000377254:G646R	ENSP00000292408:G686R	G	+	1	0	FGFR4	176456251	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.855000	0.99526	1.891000	0.54761	0.556000	0.70494	GGG		0.667	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			5	450	0	0	0	1	0	5	450				
KIAA1804	84451	broad.mit.edu	37	1	233515284	233515284	+	Silent	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:233515284A>G	ENST00000366624.3	+	9	2793	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	MLK4_ENST00000366622.1_Silent_p.G290G	NM_032435.2	NP_115811.2																					CTGCCCCAGGAAGTGGTCGTG	0.522																																						ENST00000366624.3																			0											c.(2530-2532)ggA>ggG									92.0	81.0	85.0					1																	233515284		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233515284A>G																												ENST00000366624.3:c.2532A>G	1.37:g.233515284A>G						MLK4_ENST00000366622.1_Silent_p.G290G	p.G844G	NM_032435.2	NP_115811.2					9	2793	+									Silent	SNP	ENST00000366624.3	37	c.2532A>G	CCDS1598.1																																																																																				0.522	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			36	309	0	0	0	1	0	36	309				
RYR1	6261	broad.mit.edu	37	19	39008205	39008205	+	Missense_Mutation	SNP	G	G	A	rs544339193		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:39008205G>A	ENST00000359596.3	+	66	9892	c.9892G>A	c.(9892-9894)Gcc>Acc	p.A3298T	RYR1_ENST00000360985.3_Missense_Mutation_p.A3298T|RYR1_ENST00000355481.4_Missense_Mutation_p.A3298T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3298					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGCCCTGCCCGCCGGCGCCCC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		11651	0.0		0.0	False		,,,				2504	0.001					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9892-9894)Gcc>Acc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						30.0	28.0	29.0					19																	39008205		2201	4299	6500	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008205G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9892G>A	19.37:g.39008205G>A	ENSP00000352608:p.Ala3298Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A3298T|RYR1_ENST00000359596.3_Missense_Mutation_p.A3298T	p.A3298T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	10023	+	all_cancers(60;7.91e-06)		3298					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9892G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	4.453	0.083940	0.08583	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96554	-4.05;-4.05;-4.05	3.6	2.39	0.29439	.	0.186063	0.32868	U	0.005550	D	0.92107	0.7498	L	0.51422	1.61	0.24955	N	0.991763	P;B;B	0.36660	0.564;0.411;0.147	B;B;B	0.27262	0.078;0.054;0.007	D	0.84408	0.0564	10	0.22109	T	0.4	.	13.1533	0.59503	0.0:0.2423:0.7577:0.0	.	3298;3298;3298	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	3298;3298;3298;218	ENSP00000352608:A3298T;ENSP00000347667:A3298T;ENSP00000354254:A3298T	ENSP00000347667:A3298T	A	+	1	0	RYR1	43700045	0.680000	0.27605	0.892000	0.35008	0.030000	0.12068	2.996000	0.49449	1.567000	0.49668	0.205000	0.17691	GCC		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	127	0	0	0	1	0	4	127				
LOC101243545	101243545	broad.mit.edu	37	3	161147009	161147009	+	lincRNA	SNP	A	A	G	rs572435760	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438													N|||	6	0.00119808	0.0038	0.0	5008	,	,		16178	0.0		0.0	False		,,,				2504	0.001					ENST00000473595.1																			0																				100.0	110.0	106.0					3																	161147009		1506	2683	4189			0							g.chr3:161147009A>G																													3.37:g.161147009A>G						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.438	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			7	461	0	0	0	1	0	7	461				
MT-CO3	4514	broad.mit.edu	37	M	9622	9622	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrM:9622C>T	ENST00000362079.2	+	1	416	c.416C>T	c.(415-417)gCa>gTa	p.A139V	MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	139					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CGTATTACTCGCATCAGGAGT	0.478																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(415-417)gCa>gTa		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9622C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.416C>T	M.37:g.9622C>T	ENSP00000354982:p.Ala139Val						p.139_139insV							1	416	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.416C>T																																																																																					0.478	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		4	7	0	0	0	1	0	4	7				
ALK	238	broad.mit.edu	37	2	29917793	29917793	+	Missense_Mutation	SNP	C	C	T	rs149145987		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:29917793C>T	ENST00000389048.3	-	3	1781	c.875G>A	c.(874-876)cGc>cAc	p.R292H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	292	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGAGGGGATGCGGCGCCAGGA	0.597			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				C|||	1	0.000199681	0.0008	0.0	5008	,	,		17485	0.0		0.0	False		,,,				2504	0.0					ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(874-876)cGc>cAc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	97.0	98.0		875	0.4	0.2	2	dbSNP_134	98	0,8600		0,0,4300	yes	missense	ALK	NM_004304.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	292/1621	29917793	1,13005	2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917793C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.875G>A	2.37:g.29917793C>T	ENSP00000373700:p.Arg292His					ALK_ENST00000431873.1_Intron	p.R292H	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			3	1781	-	Acute lymphoblastic leukemia(172;0.155)		292			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.875G>A	CCDS33172.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.551	0.662775	0.14645	2.27E-4	0.0	ENSG00000171094	ENST00000389048	T	0.02525	4.26	5.97	0.444	0.16592	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.53688	D	0.999975	B	0.06786	0.001	B	0.08055	0.003	T	0.53472	-0.8434	8	.	.	.	.	9.5318	0.39198	0.0:0.5909:0.0:0.4091	.	292	Q9UM73	ALK_HUMAN	H	292	ENSP00000373700:R292H	.	R	-	2	0	ALK	29771297	0.029000	0.19370	0.179000	0.23059	0.318000	0.28184	0.027000	0.13621	0.122000	0.18314	-0.150000	0.13652	CGC		0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		5	372	0	0	0	1	0	5	372				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																0							g.chr2:95522727C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	121	1	0	4.68919e-08	1	4.91905e-08	4	121				
DST	667	broad.mit.edu	37	6	56469950	56469950	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469950G>A	ENST00000361203.3	-	36	8850	c.8843C>T	c.(8842-8844)tCg>tTg	p.S2948L	DST_ENST00000446842.2_Missense_Mutation_p.S2622L|DST_ENST00000370769.4_Missense_Mutation_p.S2948L|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S2948L|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3126L			Q03001	DYST_HUMAN	dystonin	2948					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTTCCCACGATGTAATGTC	0.333																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(9376-9378)tCg>tTg		dystonin							47.0	46.0	46.0					6																	56469950		1867	4099	5966	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56469950G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8843C>T	6.37:g.56469950G>A	ENSP00000354508:p.Ser2948Leu					DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S2622L|DST_ENST00000312431.6_Missense_Mutation_p.S2948L|DST_ENST00000361203.3_Missense_Mutation_p.S2948L|DST_ENST00000370769.4_Missense_Mutation_p.S2948L	p.S3126L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	9376	-	Lung NSC(77;0.103)		2948					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.9377C>T		.	.	.	.	.	.	.	.	.	.	G	4.894	0.166106	0.09339	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81499	0.01;0.01;0.96;-1.5;-0.0;-0.36	4.75	-3.65	0.04502	.	2.471330	0.02034	N	0.048788	T	0.53658	0.1810	.	.	.	0.24495	N	0.994285	B	0.06786	0.001	B	0.04013	0.001	T	0.49781	-0.8903	8	0.46703	T	0.11	.	11.9841	0.53135	0.4817:0.0:0.5183:0.0	.	2622	Q03001-9	.	L	3126;2948;2622;2948;2948;2622	ENSP00000359790:S3126L;ENSP00000359805:S2948L;ENSP00000393645:S2622L;ENSP00000307959:S2948L;ENSP00000354508:S2948L;ENSP00000404924:S2622L	ENSP00000307959:S2948L	S	-	2	0	DST	56577909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.126000	0.10563	-0.441000	0.07201	-1.648000	0.00760	TCG		0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		20	137	0	0	0	1	0	20	137				
LATS1	9113	broad.mit.edu	37	6	150004721	150004721	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:150004721G>A	ENST00000543571.1	-	4	2051	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C|LATS1_ENST00000392273.3_Missense_Mutation_p.R502C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R502C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTAATACACGCATACTTTTC	0.443																																						ENST00000543571.1																			1	Substitution - Missense(1)	p.R502C(1)	lung(1)	central_nervous_system(1)|lung(5)	6						c.(1504-1506)Cgt>Tgt		large tumor suppressor kinase 1							134.0	139.0	137.0					6																	150004721		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004721G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1504C>T	6.37:g.150004721G>A	ENSP00000437550:p.Arg502Cys					LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR	p.R502C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	2051	-		Ovarian(120;0.0164)	502						Missense_Mutation	SNP	ENST00000543571.1	37	c.1504C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285733	0.59867	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.58358	0.34;0.34;2.51	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000014	T	0.65048	0.2654	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.999	T	0.64296	-0.6441	9	.	.	.	.	14.635	0.68682	0.0:0.0:0.8543:0.1457	.	354;502;502	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	C	502	ENSP00000437550:R502C;ENSP00000253339:R502C;ENSP00000444678:R502C	.	R	-	1	0	LATS1	150046414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.163000	0.71880	2.767000	0.95098	0.655000	0.94253	CGT		0.443	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		82	497	0	0	0	1	0	82	497				
UTP20	27340	broad.mit.edu	37	12	101723150	101723150	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:101723150G>A	ENST00000261637.4	+	27	3514	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1114					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A1114T(2)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCTGATCAGCGCATACCTGCC	0.403																																						ENST00000261637.4																			2	Substitution - Missense(2)	p.A1114T(2)	large_intestine(1)|lung(1)	NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3340-3342)Gca>Aca		UTP20, small subunit (SSU) processome component, homolog (yeast)							139.0	126.0	131.0					12																	101723150		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101723150G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3340G>A	12.37:g.101723150G>A	ENSP00000261637:p.Ala1114Thr						p.A1114T	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			27	3514	+			1114					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3340G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	4.956	0.177549	0.09443	.	.	ENSG00000120800	ENST00000261637	T	0.63744	-0.06	5.6	-0.198	0.13224	Armadillo-type fold (1);	1.117700	0.06388	N	0.716566	T	0.37265	0.0997	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19063	-1.0317	10	0.23891	T	0.37	-0.9069	9.9561	0.41668	0.1627:0.5931:0.2443:0.0	.	1114	O75691	UTP20_HUMAN	T	1114	ENSP00000261637:A1114T	ENSP00000261637:A1114T	A	+	1	0	UTP20	100247281	0.000000	0.05858	0.021000	0.16686	0.306000	0.27790	0.177000	0.16801	0.098000	0.17522	-0.195000	0.12781	GCA		0.403	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		7	423	0	0	0	1	0	7	423				
SPNS2	124976	broad.mit.edu	37	17	4439661	4439661	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4439661G>A	ENST00000329078.3	+	11	1757	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	516					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GTCCTGGGCGGCATGTTCTTC	0.667																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(1546-1548)gGc>gAc		spinster homolog 2 (Drosophila)							99.0	82.0	87.0					17																	4439661		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4439661G>A	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1547G>A	17.37:g.4439661G>A	ENSP00000333292:p.Gly516Asp						p.G516D	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			11	1757	+			516					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.1547G>A	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027900	0.93518	.	.	ENSG00000183018	ENST00000329078	T	0.60040	0.22	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.84846	2.72	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.82255	-0.0548	10	0.87932	D	0	.	16.6284	0.84993	0.0:0.0:1.0:0.0	.	516	Q8IVW8	SPNS2_HUMAN	D	516	ENSP00000333292:G516D	ENSP00000333292:G516D	G	+	2	0	SPNS2	4386410	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	7.685000	0.84117	2.504000	0.84457	0.563000	0.77884	GGC		0.667	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			7	335	0	0	0	1	0	7	335				
SCUBE1	80274	broad.mit.edu	37	22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T	rs201101225		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:43625113C>T	ENST00000360835.4	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	350	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGTAGCCGCGGTGACACAG	0.677											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		17295	0.0		0.0	False		,,,				2504	0.0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1048-1050)cGc>cAc		signal peptide, CUB domain, EGF-like 1							85.0	59.0	68.0					22																	43625113		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43625113C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1049G>A	22.37:g.43625113C>T	ENSP00000354080:p.Arg350His		OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	917		p.R350H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			9	1175	-		all_neural(38;0.0414)|Ovarian(80;0.07)	350			EGF-like 8; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1049G>A	CCDS14048.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.69	2.908995	0.52439	.	.	ENSG00000159307	ENST00000360835	D	0.92199	-2.99	4.96	2.8	0.32819	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.231622	0.41605	N	0.000847	D	0.82660	0.5085	N	0.16862	0.45	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.74990	-0.3475	10	0.51188	T	0.08	.	6.3429	0.21332	0.0:0.567:0.0:0.433	.	350	Q8IWY4	SCUB1_HUMAN	H	350	ENSP00000354080:R350H	ENSP00000354080:R350H	R	-	2	0	SCUBE1	41955057	0.764000	0.28473	0.977000	0.42913	0.412000	0.31113	1.204000	0.32296	0.729000	0.32403	-0.345000	0.07892	CGC		0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		29	107	0	0	0	1	0	29	107				
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:114270018G>A	ENST00000393494.2	+	5	834	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393500.3_Silent_p.Q110Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q209Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)caG>caA		forkhead box P2							48.0	44.0	45.0					7																	114270018		2197	4288	6485	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270018G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.555G>A	7.37:g.114270018G>A						FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q	p.Q110Q			O15409	FOXP2_HUMAN			11	1150	+			185			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.330G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	328	0	0	0	1	0	5	328				
DMD	1756	broad.mit.edu	37	X	32867854	32867854	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:32867854C>T	ENST00000357033.4	-	3	383	c.177G>A	c.(175-177)ggG>ggA	p.G59G	DMD_ENST00000288447.4_Silent_p.G51G|DMD_ENST00000378677.2_Silent_p.G55G|snoU13_ENST00000459244.1_RNA	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	59	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.		Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGTTTTTGCCCTGTCAGGC	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(175-177)ggG>ggA		dystrophin							74.0	69.0	71.0					X																	32867854		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32867854C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.177G>A	X.37:g.32867854C>T						DMD_ENST00000288447.4_Silent_p.G51G|DMD_ENST00000378677.2_Silent_p.G55G	p.G59G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			3	383	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	59		Missing (in BMD).	Actin-binding.|CH 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.177G>A	CCDS14233.1																																																																																				0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	158	0	0	0	1	0	4	158				
ZEB1	6935	broad.mit.edu	37	10	31799625	31799625	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:31799625T>C	ENST00000320985.10	+	5	616	c.506T>C	c.(505-507)tTa>tCa	p.L169S	ZEB1_ENST00000361642.5_Missense_Mutation_p.L170S|ZEB1_ENST00000446923.2_Missense_Mutation_p.L153S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.L149S|ZEB1_ENST00000542815.3_Missense_Mutation_p.L102S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	169					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTTTCACAATTACTCACCTGT	0.318																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(457-459)tTa>tCa		zinc finger E-box binding homeobox 1							69.0	67.0	68.0					10																	31799625		2202	4300	6502	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31799625T>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.506T>C	10.37:g.31799625T>C	ENSP00000319248:p.Leu169Ser					ZEB1_ENST00000542815.3_Missense_Mutation_p.L102S|ZEB1_ENST00000320985.10_Missense_Mutation_p.L169S|ZEB1_ENST00000560721.2_Missense_Mutation_p.L149S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.L170S	p.L153S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			5	849	+		Prostate(175;0.0156)	169					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.458T>C	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.532407|4.532407	0.85812|0.85812	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.15139|.	2.45;2.52;2.45;2.52;2.5|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.291763|.	0.23908|.	N|.	0.043369|.	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999;0.999;1.0;0.999;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.998;0.998;0.998;0.999;0.998;0.998|.	T|T	0.66143|0.66143	-0.5997|-0.5997	10|6	0.72032|0.18276	D|T	0.01|0.48	-8.4191|-8.4191	16.1952|16.1952	0.82023|0.82023	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	102;169;153;169;169;149;170;169|.	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;.;.;ZEB1_HUMAN|.	S|H	169;170;169;102;169;149;28;170;153|61	ENSP00000354487:L170S;ENSP00000444891:L102S;ENSP00000319248:L169S;ENSP00000415961:L170S;ENSP00000391612:L153S|.	ENSP00000319248:L169S|ENSP00000443742:Y61H	L|Y	+|+	2|1	0|0	ZEB1|ZEB1	31839631|31839631	1.000000|1.000000	0.71417|0.71417	0.883000|0.883000	0.34634|0.34634	0.979000|0.979000	0.70002|0.70002	7.630000|7.630000	0.83225|0.83225	2.236000|2.236000	0.73375|0.73375	0.482000|0.482000	0.46254|0.46254	TTA|TAC		0.318	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		56	228	0	0	0	1	0	56	228				
TNIK	23043	broad.mit.edu	37	3	170811703	170811703	+	Silent	SNP	C	C	T	rs556088275		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:170811703C>T	ENST00000436636.2	-	23	2990	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	TNIK_ENST00000369326.5_Silent_p.T860T|TNIK_ENST00000470834.1_Silent_p.T845T|TNIK_ENST00000357327.5_Silent_p.T853T|TNIK_ENST00000284483.8_Silent_p.T874T|TNIK_ENST00000488470.1_Silent_p.T827T|TNIK_ENST00000475336.1_Silent_p.T790T|TNIK_ENST00000460047.1_Silent_p.T819T|TNIK_ENST00000538048.1_Silent_p.T834T|TNIK_ENST00000341852.6_Silent_p.T798T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	882	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCAGCCCATGCGTCCCCACCA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16823	0.0		0.0	False		,,,				2504	0.001					ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2644-2646)acG>acA		TRAF2 and NCK interacting kinase							111.0	112.0	112.0					3																	170811703		2075	4228	6303	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170811703C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2646G>A	3.37:g.170811703C>T						TNIK_ENST00000488470.1_Silent_p.T827T|TNIK_ENST00000341852.6_Silent_p.T798T|TNIK_ENST00000460047.1_Silent_p.T819T|TNIK_ENST00000470834.1_Silent_p.T845T|TNIK_ENST00000369326.5_Silent_p.T860T|TNIK_ENST00000357327.5_Silent_p.T853T|TNIK_ENST00000538048.1_Silent_p.T834T|TNIK_ENST00000475336.1_Silent_p.T790T|TNIK_ENST00000284483.8_Silent_p.T874T	p.T882T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		23	2990	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		882			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.2646G>A	CCDS46956.1																																																																																				0.468	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		4	181	0	0	0	1	0	4	181				
IFT88	8100	broad.mit.edu	37	13	21205194	21205194	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:21205194A>G	ENST00000319980.6	+	18	1693	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000382778.4_Missense_Mutation_p.R456G|IFT88_ENST00000537103.1_Missense_Mutation_p.R428G|IFT88_ENST00000461115.1_3'UTR	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	456					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.R456G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGGACAGTAGAGTGAAAAG	0.338																																						ENST00000382778.4																			1	Substitution - Missense(1)	p.R456G(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1366-1368)Aga>Gga		intraflagellar transport 88 homolog (Chlamydomonas)							118.0	120.0	119.0					13																	21205194		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21205194A>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1366A>G	13.37:g.21205194A>G	ENSP00000323580:p.Arg456Gly					IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000319980.6_Missense_Mutation_p.R456G|IFT88_ENST00000537103.1_Missense_Mutation_p.R428G|IFT88_ENST00000461115.1_3'UTR	p.R456G			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	17	2484	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	456					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1366A>G	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254980	0.59321	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.75938	-0.98;0.84;0.84;0.84	5.42	2.75	0.32379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.72894	2.215	0.58432	D	0.999998	P;P;B;B	0.44734	0.842;0.756;0.243;0.376	P;B;B;B	0.47645	0.553;0.351;0.09;0.079	T	0.76498	-0.2937	10	0.39692	T	0.17	-17.5293	13.3327	0.60497	0.7395:0.2605:0.0:0.0	.	428;456;254;456	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	G	456;319;447;456;428	ENSP00000372228:R456G;ENSP00000261632:R447G;ENSP00000323580:R456G;ENSP00000437719:R428G	ENSP00000323580:R456G	R	+	1	2	IFT88	20103194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.496000	0.35638	0.849000	0.35215	0.533000	0.62120	AGA		0.338	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		83	488	0	0	0	1	0	83	488				
ZNF274	10782	broad.mit.edu	37	19	58718233	58718233	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:58718233G>T	ENST00000326804.4	+	5	862	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ZNF274_ENST00000345813.3_Missense_Mutation_p.D103Y|ZNF274_ENST00000424679.2_Missense_Mutation_p.D30Y|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATATGCTGAAGATGGAAGCCT	0.597																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(403-405)Gat>Tat		zinc finger protein 274							35.0	40.0	38.0					19																	58718233		2073	4209	6282	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58718233G>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.403G>T	19.37:g.58718233G>T	ENSP00000321209:p.Asp135Tyr					ZNF274_ENST00000424679.2_Missense_Mutation_p.D30Y|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D103Y	p.D135Y	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	5	862	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	135					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.403G>T		.	.	.	.	.	.	.	.	.	.	G	9.784	1.176193	0.21704	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.08193	3.19;3.12;3.16	3.45	-1.9	0.07665	.	1.323810	0.05424	N	0.544714	T	0.18635	0.0447	L	0.51422	1.61	0.09310	N	1	D;D;P	0.76494	0.987;0.999;0.94	P;D;P	0.63703	0.663;0.917;0.462	T	0.30995	-0.9959	10	0.87932	D	0	-0.3588	6.8146	0.23822	0.5997:0.0:0.4003:0.0	.	30;103;135	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	Y	135;103;30	ENSP00000321209:D135Y;ENSP00000321187:D103Y;ENSP00000409872:D30Y	ENSP00000321209:D135Y	D	+	1	0	ZNF274	63410045	0.076000	0.21285	0.001000	0.08648	0.215000	0.24574	0.215000	0.17562	-0.267000	0.09325	0.462000	0.41574	GAT		0.597	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		22	91	1	0	5.35356e-11	1	5.78617e-11	22	91				
SNX27	81609	broad.mit.edu	37	1	151611414	151611414	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:151611414T>C	ENST00000458013.2	+	2	482	c.362T>C	c.(361-363)aTt>aCt	p.I121T	SNX27_ENST00000368843.3_Missense_Mutation_p.I121T|SNX27_ENST00000368838.1_Missense_Mutation_p.I28T			Q96L92	SNX27_HUMAN	sorting nexin family member 27	121	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGACCTGATTCGAGCAGGC	0.483																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(361-363)aTt>aCt		sorting nexin family member 27							138.0	119.0	125.0					1																	151611414		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151611414T>C	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.362T>C	1.37:g.151611414T>C	ENSP00000400333:p.Ile121Thr					SNX27_ENST00000458013.2_Missense_Mutation_p.I121T|SNX27_ENST00000368838.1_Missense_Mutation_p.I28T	p.I121T	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	482	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		121			PDZ.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.362T>C		.	.	.	.	.	.	.	.	.	.	T	19.79	3.892752	0.72524	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.56103	0.48;0.48;0.48	4.13	4.13	0.48395	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63773	-0.6561	10	0.72032	D	0.01	.	12.3924	0.55366	0.0:0.0:0.0:1.0	.	121;121	Q96L92;Q96L92-3	SNX27_HUMAN;.	T	121;121;28	ENSP00000400333:I121T;ENSP00000357836:I121T;ENSP00000357831:I28T	ENSP00000357831:I28T	I	+	2	0	SNX27	149878038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.460000	0.80816	1.862000	0.54008	0.482000	0.46254	ATT		0.483	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		34	279	0	0	0	1	0	34	279				
MARS	4141	broad.mit.edu	37	12	57898028	57898028	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:57898028C>T	ENST00000262027.5	+	11	1448	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.C204C	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	438					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTAAAGTCTGCCGATCATGCC	0.557																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1312-1314)tgC>tgT		methionyl-tRNA synthetase	L-Methionine(DB00134)						122.0	111.0	115.0					12																	57898028		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57898028C>T	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1314C>T	12.37:g.57898028C>T						MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.C204C	p.C438C	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		11	1448	+			438					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.1314C>T	CCDS8942.1																																																																																				0.557	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		6	456	0	0	0	1	0	6	456				
CELF6	60677	broad.mit.edu	37	15	72611989	72611989	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:72611989G>A	ENST00000569547.1	-	1	298	c.227C>T	c.(226-228)aCg>aTg	p.T76M	RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.T76M|CELF6_ENST00000287202.5_Missense_Mutation_p.T76M|CELF6_ENST00000539635.1_De_novo_Start_OutOfFrame|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTCAGCACCGTCAGCTCGTA	0.672																																						ENST00000539635.1																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13								CUGBP, Elav-like family member 6							26.0	20.0	22.0					15																	72611989		2196	4290	6486	SO:0001583	missense	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72611989G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.227C>T	15.37:g.72611989G>A	ENSP00000454749:p.Thr76Met					RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.T76M|CELF6_ENST00000287202.5_Missense_Mutation_p.T76M				Q96J87	CELF6_HUMAN			0	139	-								B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Translation_Start_Site	SNP	ENST00000569547.1	37		CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140441	0.77775	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.16597	2.33	4.76	4.76	0.60689	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.45361	U	0.000362	T	0.36936	0.0985	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.15093	-1.0449	10	0.87932	D	0	-12.5926	16.3333	0.83050	0.0:0.0:1.0:0.0	.	76;76	B4DJB6;Q96J87	.;CELF6_HUMAN	M	76	ENSP00000287202:T76M	ENSP00000287202:T76M	T	-	2	0	CELF6	70399043	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.551000	0.82182	2.182000	0.69389	0.563000	0.77884	ACG		0.672	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		3	30	0	0	0	1	0	3	30				
SIPA1L2	57568	broad.mit.edu	37	1	232600891	232600891	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:232600891C>G	ENST00000366630.1	-	8	2873	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	839					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTACCTTCTCCTTTTTCTTC	0.517																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2515-2517)Gag>Cag		signal-induced proliferation-associated 1 like 2							132.0	128.0	129.0					1																	232600891		1989	4165	6154	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600891C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2515G>C	1.37:g.232600891C>G	ENSP00000355589:p.Glu839Gln					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839Q	p.E839Q			Q9P2F8	SI1L2_HUMAN			8	2873	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	839					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2515G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866049	0.91511	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.51071	0.72;0.72	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73820	-0.3862	10	0.72032	D	0.01	-38.6976	20.053	0.97634	0.0:1.0:0.0:0.0	.	839	Q9P2F8	SI1L2_HUMAN	Q	839	ENSP00000355589:E839Q;ENSP00000262861:E839Q	ENSP00000262861:E839Q	E	-	1	0	SIPA1L2	230667514	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	GAG		0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		9	640	0	0	0	1	0	9	640				
XRN1	54464	broad.mit.edu	37	3	142151540	142151540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:142151540G>A	ENST00000264951.4	-	2	388	c.271C>T	c.(271-273)Cga>Tga	p.R91*	XRN1_ENST00000463916.1_Nonsense_Mutation_p.R91*|XRN1_ENST00000392981.2_Nonsense_Mutation_p.R91*|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000544157.1_5'UTR	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R91*(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTTTGCTCGAGGAGCCACA	0.338																																						ENST00000264951.4																			1	Substitution - Nonsense(1)	p.R91*(1)	endometrium(1)	NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(271-273)Cga>Tga		5'-3' exoribonuclease 1							42.0	40.0	40.0					3																	142151540		2203	4299	6502	SO:0001587	stop_gained	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142151540G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.271C>T	3.37:g.142151540G>A	ENSP00000264951:p.Arg91*					XRN1_ENST00000392981.2_Nonsense_Mutation_p.R91*|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000463916.1_Nonsense_Mutation_p.R91*	p.R91*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			2	388	-			91					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Nonsense_Mutation	SNP	ENST00000264951.4	37	c.271C>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683679	0.68157	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	.	.	.	5.94	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7693	13.4404	0.61109	0.0:0.0:0.6797:0.3203	.	.	.	.	X	91	.	ENSP00000264951:R91X	R	-	1	2	XRN1	143634230	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	3.127000	0.50484	2.816000	0.96949	0.561000	0.74099	CGA		0.338	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		17	134	0	0	0	1	0	17	134				
KBTBD2	25948	broad.mit.edu	37	7	32909811	32909811	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:32909811G>T	ENST00000304056.4	-	4	1717	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	340										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GCAGTCTGAAGTTTGCTTGTT	0.403																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1018-1020)Ctt>Att		kelch repeat and BTB (POZ) domain containing 2							214.0	200.0	205.0					7																	32909811		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909811G>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1018C>A	7.37:g.32909811G>T	ENSP00000302586:p.Leu340Ile					AVL9_ENST00000404479.1_Intron	p.L340I	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1717	-			340					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1018C>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	3.828	-0.036369	0.07497	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.67345	-0.26	5.65	1.87	0.25490	Kelch-type beta propeller (1);	0.248699	0.40554	N	0.001063	T	0.58293	0.2112	L	0.54323	1.7	0.41608	D	0.988898	B	0.06786	0.001	B	0.06405	0.002	T	0.52555	-0.8560	10	0.45353	T	0.12	.	10.35	0.43929	0.2573:0.0:0.7427:0.0	.	340	Q8IY47	KBTB2_HUMAN	I	340;147	ENSP00000302586:L340I	ENSP00000302586:L340I	L	-	1	0	KBTBD2	32876336	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.583000	0.46094	0.140000	0.18849	-0.339000	0.08088	CTT		0.403	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		102	584	1	0	3.59399e-54	1	4.04796e-54	102	584				
ANK3	288	broad.mit.edu	37	10	61831534	61831534	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:61831534G>A	ENST00000280772.2	-	37	9296	c.9105C>T	c.(9103-9105)tgC>tgT	p.C3035C	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3035					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAGAGGTGGGCATAAACCTA	0.418																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9103-9105)tgC>tgT		ankyrin 3, node of Ranvier (ankyrin G)							79.0	87.0	85.0					10																	61831534		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831534G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9105C>T	10.37:g.61831534G>A						ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.C3035C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9296	-			3035					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.9105C>T	CCDS7258.1																																																																																				0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	553	0	0	0	1	0	6	553				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	388	1	0	0.00116845	1	0.00120215	6	388				
PRR12	57479	broad.mit.edu	37	19	50101153	50101153	+	Silent	SNP	C	C	T	rs561427502		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:50101153C>T	ENST00000418929.2	+	4	3573	c.3561C>T	c.(3559-3561)ccC>ccT	p.P1187P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGCGGGGCCCGCCTCGGCCT	0.766																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(3559-3561)ccC>ccT		proline rich 12							2.0	2.0	2.0					19																	50101153		991	2594	3585	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50101153C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3561C>T	19.37:g.50101153C>T							p.P1187P	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	3573	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	366					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.3561C>T	CCDS46143.1																																																																																				0.766	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	13	0	0	0	1	0	3	13				
FYCO1	79443	broad.mit.edu	37	3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1186-1188)gCg>gTg		FYVE and coiled-coil domain containing 1							164.0	166.0	166.0					3																	46009639		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009639G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1187C>T	3.37:g.46009639G>A	ENSP00000296137:p.Ala396Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1392	-			396					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1187C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185135	0.06340	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21191	2.02;2.03	4.72	3.29	0.37713	.	0.235442	0.37136	N	0.002234	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25363	-1.0134	10	0.38643	T	0.18	-0.0765	9.3123	0.37912	0.1481:0.0:0.8519:0.0	.	396;396	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	396	ENSP00000296137:A396V;ENSP00000441178:A396V	ENSP00000296137:A396V	A	-	2	0	FYCO1	45984643	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.032000	0.30178	0.815000	0.34398	0.655000	0.94253	GCG		0.567	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		7	788	0	0	0	1	0	7	788				
PRR23A	729627	broad.mit.edu	37	3	138724864	138724864	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:138724864G>A	ENST00000383163.2	-	1	246	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	83										endometrium(3)|kidney(1)|lung(7)	11						GACGTTGGCGGGAGCTCCAGC	0.672																																						ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(247-249)Ccg>Tcg		proline rich 23A							13.0	17.0	16.0					3																	138724864		692	1590	2282	SO:0001583	missense	729627							g.chr3:138724864G>A		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.247C>T	3.37:g.138724864G>A	ENSP00000372649:p.Pro83Ser					MRPS22_ENST00000495075.1_5'UTR	p.P83S	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	246	-			83						Missense_Mutation	SNP	ENST00000383163.2	37	c.247C>T	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953147	0.18431	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.77	-0.322	0.12713	.	1.884440	0.02784	N	0.121281	T	0.29976	0.0750	N	0.22421	0.69	0.09310	N	1	B	0.26547	0.152	B	0.26517	0.07	T	0.25847	-1.0120	9	0.54805	T	0.06	.	4.9775	0.14148	0.0:0.3914:0.466:0.1426	.	83	A6NEV1	PR23A_HUMAN	S	83	.	ENSP00000372649:P83S	P	-	1	0	PRR23A	140207554	0.011000	0.17503	0.091000	0.20842	0.006000	0.05464	-0.712000	0.05013	-0.069000	0.12931	-0.570000	0.04155	CCG		0.672	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		4	59	0	0	0	1	0	4	59				
FAM129A	116496	broad.mit.edu	37	1	184764871	184764871	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:184764871A>T	ENST00000367511.3	-	14	2220	c.2027T>A	c.(2026-2028)cTc>cAc	p.L676H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	676					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGTGCCCGGGAGTCCTGCTGT	0.582																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2026-2028)cTc>cAc		family with sequence similarity 129, member A							65.0	56.0	59.0					1																	184764871		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764871A>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2027T>A	1.37:g.184764871A>T	ENSP00000356481:p.Leu676His					FAM129A_ENST00000487074.1_5'UTR	p.L676H	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			14	2220	-			676					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2027T>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795937	0.31777	.	.	ENSG00000135842	ENST00000367511	T	0.10005	2.92	5.17	2.64	0.31445	.	0.972905	0.08410	N	0.950059	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	B	0.41202	0.35	T	0.32214	-0.9915	10	0.41790	T	0.15	0.0338	7.1356	0.25527	0.209:0.1395:0.6516:0.0	.	676	Q9BZQ8	NIBAN_HUMAN	H	676	ENSP00000356481:L676H	ENSP00000356481:L676H	L	-	2	0	FAM129A	183031494	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	0.365000	0.20348	0.960000	0.38005	0.402000	0.26972	CTC		0.582	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			31	233	0	0	0	1	0	31	233				
FOXC2	2303	broad.mit.edu	37	16	86602198	86602198	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:86602198G>A	ENST00000320354.4	+	1	1342	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	419					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccgccgcggcGCAGGCGGCCT	0.756									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1255-1257)gcG>gcA		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							7.0	9.0	8.0					16																	86602198		2059	4069	6128	SO:0001819	synonymous_variant	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602198G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1257G>A	16.37:g.86602198G>A							p.A419A	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	1342	+			419			Ala/Pro-rich.|Poly-Ala.		C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.1257G>A	CCDS10958.1																																																																																				0.756	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		9	52	0	0	0	1	0	9	52				
MRC1	4360	broad.mit.edu	37	10	17949641	17949641	+	Silent	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:17949641A>G	ENST00000331429.2	+	28	4108	c.4005A>G	c.(4003-4005)ttA>ttG	p.L1335L																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGTAGCTTTACATGCGTCTT	0.423																																						ENST00000331429.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(4003-4005)ttA>ttG									154.0	162.0	159.0					10																	17949641		2186	4283	6469	SO:0001819	synonymous_variant	0							g.chr10:17949641A>G																												ENST00000331429.2:c.4005A>G	10.37:g.17949641A>G							p.L1335L							28	4108	+									Silent	SNP	ENST00000331429.2	37	c.4005A>G																																																																																					0.423	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			108	532	0	0	0	1	0	108	532				
UGT1A7	54577	broad.mit.edu	37	2	234590864	234590864	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:234590864C>T	ENST00000373426.3	+	1	281	c.281C>T	c.(280-282)gCc>gTc	p.A94V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	94					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	ATGGTTTTTGCCGATGCTCGC	0.438																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(280-282)gCc>gTc									116.0	112.0	113.0					2																	234590864		2203	4300	6503	SO:0001583	missense	0							g.chr2:234590864C>T	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.281C>T	2.37:g.234590864C>T	ENSP00000362525:p.Ala94Val					UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	p.A94V	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	281	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.281C>T	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009282	0.19277	.	.	ENSG00000244122	ENST00000373426	T	0.59224	0.28	4.51	2.67	0.31697	.	.	.	.	.	T	0.32376	0.0827	N	0.11789	0.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.008	T	0.22556	-1.0213	9	0.05721	T	0.95	.	8.4153	0.32668	0.0:0.7581:0.0:0.2419	.	94;94	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	V	94	ENSP00000362525:A94V	ENSP00000362525:A94V	A	+	2	0	UGT1A7	234255603	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-2.282000	0.01156	0.499000	0.27970	0.491000	0.48974	GCC		0.438	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		7	669	0	0	0	1	0	7	669				
FAM66D	100132923	broad.mit.edu	37	8	11985701	11985701	+	RNA	SNP	A	A	C	rs188697910	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:11985701A>C	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		GTAAAAGAGGACATAGGCCTG	0.458													a|||	24	0.00479233	0.0023	0.0086	5008	,	,		21083	0.0		0.0119	False		,,,				2504	0.0031					ENST00000434078.2																			0																																																			0							g.chr8:11985701A>C			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11985701A>C								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.458	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		21	54	0	0	0	1	0	21	54				
TAF1C	9013	broad.mit.edu	37	16	84215436	84215436	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:84215436G>A	ENST00000567759.1	-	8	1132	c.950C>T	c.(949-951)gCc>gTc	p.A317V	TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000566732.1_Missense_Mutation_p.A291V|TAF1C_ENST00000378541.4_Missense_Mutation_p.A317V|TAF1C_ENST00000341690.6_Missense_Mutation_p.A224V|TAF1C_ENST00000541676.1_Missense_Mutation_p.A224V	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	317					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTTCCACACGGCACAGTGGTA	0.597																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(949-951)gCc>gTc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							85.0	81.0	82.0					16																	84215436		2200	4300	6500	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215436G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.950C>T	16.37:g.84215436G>A	ENSP00000455265:p.Ala317Val					TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000541676.1_Missense_Mutation_p.A224V|TAF1C_ENST00000341690.6_Missense_Mutation_p.A224V|TAF1C_ENST00000378541.4_Missense_Mutation_p.A317V|TAF1C_ENST00000566732.1_Missense_Mutation_p.A291V	p.A317V	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			8	1132	-			317					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.950C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201947	0.79127	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.64803	1.65;-0.12;-0.12	4.47	3.5	0.40072	WD40/YVTN repeat-like-containing domain (1);	0.225081	0.28493	N	0.015148	T	0.69006	0.3063	M	0.62723	1.935	0.35910	D	0.831011	D;D;D;D	0.61080	0.989;0.964;0.961;0.964	P;P;P;P	0.58928	0.848;0.772;0.756;0.772	T	0.72704	-0.4213	10	0.30078	T	0.28	-16.206	10.3095	0.43699	0.0:0.1998:0.8002:0.0	.	291;291;317;224	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	V	317;224;224;291	ENSP00000367802:A317V;ENSP00000437900:A224V;ENSP00000345305:A224V	ENSP00000345305:A224V	A	-	2	0	TAF1C	82772937	0.995000	0.38212	1.000000	0.80357	0.929000	0.56500	1.645000	0.37238	1.086000	0.41228	0.561000	0.74099	GCC		0.597	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		5	339	0	0	0	1	0	5	339				
EGF	1950	broad.mit.edu	37	4	110909769	110909769	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:110909769G>A	ENST00000265171.5	+	18	3083	c.2638G>A	c.(2638-2640)Gtg>Atg	p.V880M	EGF_ENST00000509793.1_Missense_Mutation_p.V838M|EGF_ENST00000503392.1_Missense_Mutation_p.V880M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	880	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGGTGTCCCAGTGTGCCCCCC	0.463																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2638-2640)Gtg>Atg		epidermal growth factor	Sulindac(DB00605)						172.0	173.0	172.0					4																	110909769		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110909769G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2638G>A	4.37:g.110909769G>A	ENSP00000265171:p.Val880Met					EGF_ENST00000503392.1_Missense_Mutation_p.V880M|EGF_ENST00000509793.1_Missense_Mutation_p.V838M	p.V880M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	18	3083	+		Hepatocellular(203;0.0893)	880			EGF-like 7; calcium-binding (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2638G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129552	0.37630	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;D;D	0.92199	1.97;-2.99;-2.99	5.25	3.48	0.39840	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.815723	0.11241	N	0.584665	D	0.88355	0.6414	N	0.25245	0.725	0.09310	N	1	P;P;P	0.51537	0.946;0.883;0.946	P;P;P	0.48840	0.592;0.456;0.592	T	0.79085	-0.1948	10	0.44086	T	0.13	.	9.6075	0.39643	0.0927:0.2322:0.6751:0.0	.	880;838;880	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	M	838;880;880	ENSP00000424316:V838M;ENSP00000265171:V880M;ENSP00000421384:V880M	ENSP00000265171:V880M	V	+	1	0	EGF	111129218	0.000000	0.05858	0.007000	0.13788	0.055000	0.15305	-0.548000	0.06048	1.206000	0.43276	0.655000	0.94253	GTG		0.463	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			132	566	0	0	0	1	0	132	566				
FAT3	120114	broad.mit.edu	37	11	92532244	92532244	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:92532244C>A	ENST00000298047.6	+	9	6082	c.6065C>A	c.(6064-6066)cCa>cAa	p.P2022Q	FAT3_ENST00000409404.2_Missense_Mutation_p.P2022Q|FAT3_ENST00000525166.1_Missense_Mutation_p.P1872Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2022	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTTAAACCCAGGAAATAAG	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6064-6066)cCa>cAa		FAT atypical cadherin 3							75.0	75.0	75.0					11																	92532244		1851	4093	5944	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532244C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6065C>A	11.37:g.92532244C>A	ENSP00000298047:p.Pro2022Gln	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.P2022Q|FAT3_ENST00000525166.1_Missense_Mutation_p.P1872Q	p.P2022Q			Q8TDW7	FAT3_HUMAN			9	6082	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2022			Cadherin 18.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6065C>A		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813099	0.50527	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.49432	0.78;0.78;0.78	5.82	5.82	0.92795	.	.	.	.	.	T	0.36413	0.0966	L	0.32530	0.975	0.80722	D	1	P	0.35656	0.514	B	0.27715	0.082	T	0.31280	-0.9949	9	0.66056	D	0.02	.	14.8861	0.70570	0.1434:0.8566:0.0:0.0	.	2022	Q8TDW7-3	.	Q	2022;2022;1872	ENSP00000298047:P2022Q;ENSP00000387040:P2022Q;ENSP00000432586:P1872Q	ENSP00000298047:P2022Q	P	+	2	0	FAT3	92171892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.778000	0.62368	2.760000	0.94817	0.655000	0.94253	CCA		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	316	1	0	0.014758	1	0.014758	5	316				
FAIM3	9214	broad.mit.edu	37	1	207087157	207087157	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:207087157C>T	ENST00000367091.3	-	2	463	c.320G>A	c.(319-321)gGc>gAc	p.G107D	FAIM3_ENST00000420007.2_Missense_Mutation_p.G107D|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	107					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGTGTTCATGCCCGCTCCGCA	0.527																																						ENST00000367091.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15						c.(319-321)gGc>gAc		Fas apoptotic inhibitory molecule 3							108.0	108.0	108.0					1																	207087157		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087157C>T	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.320G>A	1.37:g.207087157C>T	ENSP00000356058:p.Gly107Asp					FAIM3_ENST00000420007.2_Missense_Mutation_p.G107D|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	p.G107D	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN			2	463	-	Breast(84;0.201)		107					A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.320G>A	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949618	0.53186	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000110	T	0.14787	0.0357	L	0.47190	1.495	0.28079	N	0.932263	D	0.62365	0.991	D	0.67900	0.954	T	0.00819	-1.1553	10	0.56958	D	0.05	-26.0309	14.4357	0.67279	0.0:1.0:0.0:0.0	.	107	O60667	FAIM3_HUMAN	D	107;107;107;107;138	ENSP00000356058:G107D;ENSP00000403356:G107D;ENSP00000432936:G107D;ENSP00000437331:G107D;ENSP00000436316:G138D	ENSP00000356058:G107D	G	-	2	0	FAIM3	205153780	0.520000	0.26250	0.365000	0.25901	0.015000	0.08874	3.610000	0.54125	2.467000	0.83353	0.655000	0.94253	GGC		0.527	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		6	608	0	0	0	1	0	6	608				
RPL7A	6130	broad.mit.edu	37	9	136218131	136218131	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:136218131G>T	ENST00000323345.6	+	8	741	c.711G>T	c.(709-711)tgG>tgT	p.W237C	SNORD36C_ENST00000516733.1_RNA|SNORD36A_ENST00000362874.1_RNA|SNORD24_ENST00000383884.1_RNA|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|SNORD36B_ENST00000363961.1_RNA|RPL7A_ENST00000315731.4_Missense_Mutation_p.W122C	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	237					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GCCGTCACTGGGGTGGCAATG	0.453																																						ENST00000323345.6																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(709-711)tgG>tgT		ribosomal protein L7a							78.0	75.0	76.0					9																	136218131		2203	4300	6503	SO:0001583	missense	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136218131G>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.711G>T	9.37:g.136218131G>T	ENSP00000361076:p.Trp237Cys					RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.W122C	p.W237C	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	8	741	+			237					P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	37	c.711G>T	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814931	0.32053	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.70164	0.06;-0.46	5.29	5.29	0.74685	.	0.057096	0.85682	D	0.000000	D	0.85256	0.5655	H	0.97783	4.075	0.80722	D	1	P	0.37997	0.614	P	0.47044	0.535	D	0.89670	0.3883	10	0.87932	D	0	.	17.9044	0.88914	0.0:0.0:1.0:0.0	.	237	P62424	RL7A_HUMAN	C	237;122	ENSP00000361076:W237C;ENSP00000361071:W122C	ENSP00000361071:W122C	W	+	3	0	RPL7A	135207952	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	9.081000	0.94049	2.481000	0.83766	0.561000	0.74099	TGG		0.453	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		4	174	1	0	0.00909568	1	0.00926893	4	174				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	497	0	0	0	1	0	7	497				
EGR3	1960	broad.mit.edu	37	8	22550452	22550452	+	Silent	SNP	G	G	A	rs375168773		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:22550452G>A	ENST00000317216.2	-	1	363	c.6C>T	c.(4-6)acC>acT	p.T2T	EGR3_ENST00000519492.1_Silent_p.T2T|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'Flank|EGR3_ENST00000522910.1_5'Flank	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	2					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGAGTTTGCCGGTCATAGCAC	0.657																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(4-6)acC>acT		early growth response 3		G		0,4406		0,0,2203	39.0	35.0	36.0		6	4.0	1.0	8		36	1,8599		0,1,4299	no	coding-synonymous	EGR3	NM_004430.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2/388	22550452	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22550452G>A	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.6C>T	8.37:g.22550452G>A						EGR3_ENST00000519492.1_Silent_p.T2T|RP11-459E5.1_ENST00000523627.1_RNA	p.T2T	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	1	363	-		Prostate(55;0.0421)|Breast(100;0.102)	2					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Silent	SNP	ENST00000317216.2	37	c.6C>T	CCDS6033.1																																																																																				0.657	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		4	126	0	0	0	1	0	4	126				
HMCN1	83872	broad.mit.edu	37	1	186086639	186086639	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:186086639A>T	ENST00000271588.4	+	77	11961	c.11732A>T	c.(11731-11733)cAt>cTt	p.H3911L	HMCN1_ENST00000367492.2_Missense_Mutation_p.H3911L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3911	Ig-like C2-type 38.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAACCAAACATGCCCCAGCA	0.438																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11731-11733)cAt>cTt		hemicentin 1							98.0	94.0	95.0					1																	186086639		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186086639A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11732A>T	1.37:g.186086639A>T	ENSP00000271588:p.His3911Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.H3911L	p.H3911L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			77	11961	+			3911			Ig-like C2-type 38.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11732A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.476078	0.01035	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	5.65	0.272	0.15645	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499501	0.22254	N	0.062503	T	0.33469	0.0864	N	0.02736	-0.51	0.19945	N	0.999942	B	0.32753	0.383	B	0.34038	0.174	T	0.23013	-1.0200	10	0.23302	T	0.38	.	4.2131	0.10521	0.3639:0.0:0.305:0.3311	.	3911	Q96RW7	HMCN1_HUMAN	L	3911	ENSP00000271588:H3911L;ENSP00000356462:H3911L	ENSP00000271588:H3911L	H	+	2	0	HMCN1	184353262	0.139000	0.22563	0.011000	0.14972	0.269000	0.26545	1.675000	0.37555	0.088000	0.17205	0.533000	0.62120	CAT		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	606	0	0	0	1	0	5	606				
IRF2	3660	broad.mit.edu	37	4	185339858	185339858	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:185339858C>A	ENST00000393593.3	-	4	399	c.192G>T	c.(190-192)aaG>aaT	p.K64N	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	64					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CTGGTTGATGCTTTCCTAACA	0.378																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(190-192)aaG>aaT		interferon regulatory factor 2							62.0	61.0	62.0					4																	185339858		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185339858C>A		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.192G>T	4.37:g.185339858C>A	ENSP00000377218:p.Lys64Asn					IRF2_ENST00000512020.1_5'UTR	p.K64N	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	4	399	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	64					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.192G>T	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711954	0.68730	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	5.26	5.26	0.73747	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	M	0.66297	2.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98597	1.0657	10	0.87932	D	0	-8.3921	12.7922	0.57541	0.0:0.9154:0.0:0.0846	.	64	P14316	IRF2_HUMAN	N	64	ENSP00000377218:K64N;ENSP00000427204:K64N;ENSP00000424552:K64N;ENSP00000422860:K64N	ENSP00000377218:K64N	K	-	3	2	IRF2	185576852	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.950000	0.40323	2.740000	0.93945	0.561000	0.74099	AAG		0.378	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			26	101	1	0	1.85244e-09	1	1.96249e-09	26	101				
GJA5	2702	broad.mit.edu	37	1	147230999	147230999	+	Missense_Mutation	SNP	C	C	G	rs150168016		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:147230999C>G	ENST00000271348.2	-	2	509	c.348G>C	c.(346-348)gaG>gaC	p.E116D	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.E116D	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	116					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCCCCGGACCTCTTTGGCCC	0.622																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(346-348)gaG>gaC		gap junction protein, alpha 5, 40kDa							70.0	69.0	69.0					1																	147230999		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230999C>G		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.348G>C	1.37:g.147230999C>G	ENSP00000271348:p.Glu116Asp					GJA5_ENST00000369237.1_Missense_Mutation_p.E116D	p.E116D	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	509	-	all_hematologic(923;0.0276)		116					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.348G>C	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.432319	0.01108	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97752	-4.46;-4.46;-4.52	5.47	2.17	0.27698	.	0.857393	0.10119	N	0.713656	D	0.86339	0.5909	N	0.16478	0.41	0.09310	N	0.999997	B	0.15141	0.012	B	0.17979	0.02	T	0.79694	-0.1696	10	0.14656	T	0.56	.	6.9223	0.24395	0.2411:0.5858:0.106:0.0671	.	116	P36382	CXA5_HUMAN	D	116	ENSP00000271348:E116D;ENSP00000358240:E116D;ENSP00000407645:E116D	ENSP00000271348:E116D	E	-	3	2	GJA5	145697623	0.363000	0.24989	0.121000	0.21740	0.021000	0.10359	0.607000	0.24209	0.660000	0.30964	-0.309000	0.09137	GAG		0.622	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		114	297	0	0	0	1	0	114	297				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	143	0	0	0	1	0	5	143				
CROCCP2	84809	broad.mit.edu	37	1	16958063	16958063	+	lincRNA	SNP	C	C	T	rs386628937|rs2779441	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:16958063C>T	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCCCTCTCCATCCTCTGTC	0.652													.|||	346	0.0690895	0.09	0.0994	5008	,	,		59355	0.0119		0.0676	False		,,,				2504	0.0798					ENST00000412962.1																			0																																																			0							g.chr1:16958063C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958063C>T														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.652	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	32	0	0	0	1	0	4	32				
DST	667	broad.mit.edu	37	6	56469951	56469951	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469951A>T	ENST00000361203.3	-	36	8849	c.8842T>A	c.(8842-8844)Tcg>Acg	p.S2948T	DST_ENST00000446842.2_Missense_Mutation_p.S2622T|DST_ENST00000370769.4_Missense_Mutation_p.S2948T|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S2948T|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3126T			Q03001	DYST_HUMAN	dystonin	2948					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTCCCACGATGTAATGTCT	0.333																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(9376-9378)Tcg>Acg		dystonin							48.0	46.0	46.0					6																	56469951		1866	4099	5965	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56469951A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8842T>A	6.37:g.56469951A>T	ENSP00000354508:p.Ser2948Thr					DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S2622T|DST_ENST00000312431.6_Missense_Mutation_p.S2948T|DST_ENST00000361203.3_Missense_Mutation_p.S2948T|DST_ENST00000370769.4_Missense_Mutation_p.S2948T	p.S3126T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	9375	-	Lung NSC(77;0.103)		2948					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.9376T>A		.	.	.	.	.	.	.	.	.	.	A	7.748	0.702815	0.15172	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82526	-0.1;-0.1;0.84;-1.62;-0.13;-0.49	4.44	-2.96	0.05547	.	2.471330	0.02034	N	0.048788	T	0.52338	0.1728	.	.	.	0.21473	N	0.999676	B	0.24721	0.11	B	0.24848	0.056	T	0.48692	-0.9013	8	0.36615	T	0.2	.	5.9227	0.19091	0.4464:0.3912:0.1624:0.0	.	2622	Q03001-9	.	T	3126;2948;2622;2948;2948;2622	ENSP00000359790:S3126T;ENSP00000359805:S2948T;ENSP00000393645:S2622T;ENSP00000307959:S2948T;ENSP00000354508:S2948T;ENSP00000404924:S2622T	ENSP00000307959:S2948T	S	-	1	0	DST	56577910	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.411000	0.21115	-0.581000	0.05937	-0.256000	0.11100	TCG		0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		21	134	0	0	0	1	0	21	134				
KLK15	55554	broad.mit.edu	37	19	51330227	51330227	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:51330227G>A	ENST00000598239.1	-	3	418	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	KLK15_ENST00000326856.4_Missense_Mutation_p.R129C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.R130C|KLK15_ENST00000596931.1_Missense_Mutation_p.R129C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGGGGGCAACGCGTGGGTAGC	0.711																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(385-387)Cgt>Tgt		kallikrein-related peptidase 15							31.0	33.0	33.0					19																	51330227		2201	4297	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330227G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.388C>T	19.37:g.51330227G>A	ENSP00000469315:p.Arg130Cys					KLK15_ENST00000596931.1_Missense_Mutation_p.R129C|KLK15_ENST00000598239.1_Missense_Mutation_p.R130C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.R130C	p.R129C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	514	-		all_neural(266;0.057)	130			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.385C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	14.99	2.699087	0.48307	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88975	-2.45	4.39	4.39	0.52855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.444898	0.19247	N	0.119028	D	0.91945	0.7449	M	0.64997	1.995	0.09310	N	0.999999	D;P;D	0.89917	1.0;0.732;0.999	P;B;D	0.64877	0.892;0.167;0.93	D	0.84679	0.0716	10	0.72032	D	0.01	.	10.6517	0.45653	0.0:0.1948:0.8052:0.0	.	130;129;130	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	C	130	ENSP00000301421:R130C	ENSP00000301421:R130C	R	-	1	0	KLK15	56022039	0.000000	0.05858	0.063000	0.19743	0.016000	0.09150	-0.260000	0.08708	2.454000	0.82982	0.555000	0.69702	CGT		0.711	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		45	198	0	0	0	1	0	45	198				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	240	0	0	0	1	0	5	240				
VGLL2	245806	broad.mit.edu	37	6	117593645	117593645	+	Silent	SNP	C	C	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:117593645C>G	ENST00000326274.5	+	4	1132	c.942C>G	c.(940-942)tcC>tcG	p.S314S	VGLL2_ENST00000352536.3_Silent_p.S140S	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	314					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GTGGTGCATCCCTCCTGAGCT	0.542																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(940-942)tcC>tcG		vestigial like 2 (Drosophila)							470.0	393.0	419.0					6																	117593645		2203	4300	6503	SO:0001819	synonymous_variant	245806				transcription, DNA-dependent	nucleus		g.chr6:117593645C>G	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.942C>G	6.37:g.117593645C>G						VGLL2_ENST00000352536.3_Silent_p.S140S	p.S314S	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	4	1132	+			314					Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.942C>G	CCDS5115.1																																																																																				0.542	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		156	1003	0	0	0	1	0	156	1003				
KCNH4	23415	broad.mit.edu	37	17	40318480	40318480	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:40318480C>A	ENST00000264661.3	-	10	2007	c.1675G>T	c.(1675-1677)Gca>Tca	p.A559S	KCNH4_ENST00000607371.1_Missense_Mutation_p.A559S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	559					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGCTCGCTGCCCCGAACAAC	0.622																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1675-1677)Gca>Tca		potassium voltage-gated channel, subfamily H (eag-related), member 4							43.0	37.0	39.0					17																	40318480		2203	4299	6502	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318480C>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1675G>T	17.37:g.40318480C>A	ENSP00000264661:p.Ala559Ser					KCNH4_ENST00000607371.1_Missense_Mutation_p.A559S	p.A559S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2007	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	559						Missense_Mutation	SNP	ENST00000264661.3	37	c.1675G>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202261	0.22121	.	.	ENSG00000089558	ENST00000264661	D	0.96459	-4.02	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.39341	N	0.001385	D	0.85340	0.5674	N	0.03000	-0.44	0.39245	D	0.963924	B	0.14438	0.01	B	0.20184	0.028	T	0.79408	-0.1816	10	0.07325	T	0.83	.	4.9932	0.14226	0.0:0.7295:0.0:0.2705	.	559	Q9UQ05	KCNH4_HUMAN	S	559	ENSP00000264661:A559S	ENSP00000264661:A559S	A	-	1	0	KCNH4	37572006	0.174000	0.23070	0.998000	0.56505	0.556000	0.35491	0.088000	0.14979	2.182000	0.69389	0.563000	0.77884	GCA		0.622	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		78	166	1	0	8.16569e-41	1	9.10134e-41	78	166				
ANK1	286	broad.mit.edu	37	8	41573238	41573238	+	Missense_Mutation	SNP	G	G	A	rs369968960		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:41573238G>A	ENST00000347528.4	-	14	1617	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	ANK1_ENST00000265709.8_Missense_Mutation_p.R545C|ANK1_ENST00000289734.7_Missense_Mutation_p.R512C|ANK1_ENST00000396942.1_Missense_Mutation_p.R512C|ANK1_ENST00000352337.4_Missense_Mutation_p.R512C|ANK1_ENST00000379758.2_Missense_Mutation_p.R512C|ANK1_ENST00000396945.1_Missense_Mutation_p.R512C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	512	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCCTCACGGGCTGCAATG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19013	0.001		0.0	False		,,,				2504	0.0					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1534-1536)Cgt>Tgt		ankyrin 1, erythrocytic		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	83.0	85.0		1534,1633,1534,1534,1534	6.0	1.0	8		85	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	512/1881,545/1898,512/1857,512/1882,512/1720	41573238	1,13005	2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41573238G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1534C>T	8.37:g.41573238G>A	ENSP00000339620:p.Arg512Cys					ANK1_ENST00000265709.8_Missense_Mutation_p.R545C|ANK1_ENST00000379758.2_Missense_Mutation_p.R512C|ANK1_ENST00000352337.4_Missense_Mutation_p.R512C|ANK1_ENST00000289734.7_Missense_Mutation_p.R512C|ANK1_ENST00000396945.1_Missense_Mutation_p.R512C|ANK1_ENST00000347528.4_Missense_Mutation_p.R512C	p.R512C			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		14	1617	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	512			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.1534C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162987	0.57476	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	6.03	6.03	0.97812	Ankyrin repeat-containing domain (3);	0.059791	0.64402	D	0.000002	T	0.80565	0.4647	M	0.69185	2.1	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.703;0.997;1.0	D;D;B;P;D	0.79108	0.992;0.98;0.108;0.68;0.992	T	0.81284	-0.1002	10	0.87932	D	0	.	15.9973	0.80260	0.0:0.0:0.8649:0.1351	.	545;512;512;512;512	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	C	512;512;512;512;512;512;545;512	ENSP00000339620:R512C;ENSP00000289734:R512C;ENSP00000369082:R512C;ENSP00000380149:R512C;ENSP00000380147:R512C;ENSP00000309131:R512C;ENSP00000265709:R545C	ENSP00000265709:R545C	R	-	1	0	ANK1	41692395	1.000000	0.71417	0.997000	0.53966	0.139000	0.21198	5.396000	0.66297	2.868000	0.98415	0.555000	0.69702	CGT		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		35	283	0	0	0	1	0	35	283				
SIRPB1	10326	broad.mit.edu	37	20	1558985	1558985	+	Splice_Site	SNP	G	G	A	rs200840558	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:1558985G>A	ENST00000381605.4	-	2	496	c.432C>T	c.(430-432)cgC>cgT	p.R144R	SIRPB1_ENST00000262929.5_Splice_Site_p.R143R|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144R|SIRPB1_ENST00000381603.3_Splice_Site_p.R144R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTACTCACCGCGCACAGACA	0.552													A|||	3	0.000599042	0.0015	0.0	5008	,	,		18196	0.0		0.001	False		,,,				2504	0.0					ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.e2+1		signal-regulatory protein beta 1							118.0	105.0	110.0					20																	1558985		2196	4235	6431	SO:0001630	splice_region_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1558985G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.433+1C>T	20.37:g.1558985G>A						SIRPB1_ENST00000262929.5_Splice_Site_p.R143_splice|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144_splice|SIRPB1_ENST00000381603.3_Splice_Site_p.R144_splice	p.R144_splice	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	496	-			144					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Splice_Site	SNP	ENST00000381605.4	37	c.433_splice	CCDS13019.1																																																																																				0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	Silent	7	511	0	0	0	1	0	7	511				
CFAP54	144535	broad.mit.edu	37	12	97102439	97102439	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:97102439C>T	ENST00000524981.4	+	48	6605	c.6582C>T	c.(6580-6582)ggC>ggT	p.G2194G				Q96N23	CL055_HUMAN		0																	TTACAATTGGCCAACCACATC	0.308																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1933-1935)ggC>ggT									79.0	81.0	81.0					12																	97102439		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr12:97102439C>T																												ENST00000524981.4:c.6582C>T	12.37:g.97102439C>T							p.G645G			Q6ZTY8	CL063_HUMAN			15	1935	+			619						Silent	SNP	ENST00000524981.4	37	c.1935C>T																																																																																					0.308	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			5	411	0	0	0	1	0	5	411				
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	1039	0	0	0	1	0	8	1039				
CD1E	913	broad.mit.edu	37	1	158325907	158325907	+	Intron	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:158325907C>T	ENST00000368167.3	+	4	1143				CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Silent_p.L304L|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule						antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAGAAACAGCTGAGGCTCTG	0.542																																						ENST00000434258.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(910-912)Ctg>Ttg		CD1e molecule							36.0	41.0	39.0					1																	158325907		2203	4300	6503	SO:0001627	intron_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325907C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.904+12C>T	1.37:g.158325907C>T						CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368155.3_Intron	p.L304L			P15812	CD1E_HUMAN			4	921	+	all_hematologic(112;0.0378)		0					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.910C>T	CCDS41417.1																																																																																				0.542	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		28	215	0	0	0	1	0	28	215				
ZNF181	339318	broad.mit.edu	37	19	35232753	35232753	+	Silent	SNP	T	T	C	rs201356205	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:35232753T>C	ENST00000492450.1	+	4	1556	c.1467T>C	c.(1465-1467)taT>taC	p.Y489Y	ZNF181_ENST00000459757.2_Silent_p.Y488Y|ZNF181_ENST00000392232.3_Silent_p.Y533Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAAACCTTATGAATGTATTA	0.388													t|||	10	0.00199681	0.0	0.0	5008	,	,		21281	0.005		0.0	False		,,,				2504	0.0051					ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1597-1599)taT>taC		zinc finger protein 181							54.0	57.0	56.0					19																	35232753		2203	4300	6503	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232753T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1467T>C	19.37:g.35232753T>C						ZNF181_ENST00000459757.1_Silent_p.Y488Y|ZNF181_ENST00000492450.1_Silent_p.Y489Y	p.Y533Y			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1767	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		489					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.1599T>C	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	285	0	0	0	1	0	7	285				
ZNF783	100289678	broad.mit.edu	37	7	148984847	148984847	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:148984847G>T	ENST00000418158.2	+	2	378	c.216G>T	c.(214-216)tgG>tgT	p.W72C	RP4-800G7.2_ENST00000416232.1_RNA|ZNF783_ENST00000489518.1_3'UTR|SNORD112_ENST00000516748.1_RNA			Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGTGGCTGTGGAGTTCGGGAA	0.627																																						ENST00000418158.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(214-216)tgG>tgT		zinc finger family member 783																																				SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148984847G>T	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000418158.2:c.216G>T	7.37:g.148984847G>T	ENSP00000391817:p.Trp72Cys					RP4-800G7.2_ENST00000416232.1_RNA|ZNF783_ENST00000489518.1_3'UTR	p.W72C			C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		2	378	+	Melanoma(164;0.15)		459					C9J9J2	Missense_Mutation	SNP	ENST00000418158.2	37	c.216G>T		.	.	.	.	.	.	.	.	.	.	G	17.03	3.285426	0.59867	.	.	ENSG00000204946	ENST00000418158	.	.	.	3.92	-0.0557	0.13808	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.20074	N	0.999937	P	0.36587	0.559	B	0.34931	0.192	T	0.12682	-1.0538	7	0.87932	D	0	.	5.8867	0.18886	0.2687:0.1444:0.5869:0.0	.	72	E7ENX7	.	C	72	.	ENSP00000391817:W72C	W	+	3	0	ZNF783	148615780	0.998000	0.40836	0.002000	0.10522	0.002000	0.02628	1.898000	0.39809	-0.532000	0.06332	-1.564000	0.00881	TGG		0.627	ZNF783-201	KNOWN	basic	protein_coding	protein_coding		NM_001195220		33	182	1	0	1.61788e-16	1	1.76646e-16	33	182				
PTPN14	5784	broad.mit.edu	37	1	214557519	214557519	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:214557519T>G	ENST00000366956.5	-	13	1873	c.1679A>C	c.(1678-1680)aAg>aCg	p.K560T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	560					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGATAGTTCTTAAGCATGTG	0.652																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1678-1680)aAg>aCg		protein tyrosine phosphatase, non-receptor type 14							63.0	64.0	63.0					1																	214557519		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557519T>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1679A>C	1.37:g.214557519T>G	ENSP00000355923:p.Lys560Thr					PTPN14_ENST00000543945.1_3'UTR	p.K560T	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1873	-			560					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1679A>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086987	0.55861	.	.	ENSG00000152104	ENST00000366956	T	0.71341	-0.56	5.61	3.29	0.37713	.	0.095764	0.64402	D	0.000001	T	0.65523	0.2699	M	0.61703	1.905	0.80722	D	1	B	0.31383	0.321	B	0.31614	0.133	T	0.62383	-0.6866	10	0.52906	T	0.07	.	9.8328	0.40952	0.0:0.1389:0.0:0.8611	.	560	Q15678	PTN14_HUMAN	T	560	ENSP00000355923:K560T	ENSP00000355923:K560T	K	-	2	0	PTPN14	212624142	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	2.671000	0.46842	0.502000	0.28037	0.528000	0.53228	AAG		0.652	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		6	396	0	0	0	1	0	6	396				
ARSA	410	broad.mit.edu	37	22	51064677	51064677	+	Missense_Mutation	SNP	C	C	T	rs199476387		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:51064677C>T	ENST00000547307.1	-	5	1283	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ARSA_ENST00000453344.2_Missense_Mutation_p.G209D|ARSA_ENST00000395619.3_Missense_Mutation_p.G295D|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000395621.3_Missense_Mutation_p.G295D|ARSA_ENST00000216124.5_Missense_Mutation_p.G295D|ARSA_ENST00000547805.1_Missense_Mutation_p.G293D|ARSA_ENST00000356098.5_Missense_Mutation_p.G295D			P15289	ARSA_HUMAN	arylsulfatase A	293			G -> D (in MLD; late-onset; dbSNP:rs199476387). {ECO:0000269|PubMed:15026521}.|G -> S (in MLD; adult type; causes a severe reduction of enzyme activity; dbSNP:rs199476349). {ECO:0000269|PubMed:15326627}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	ACCGGAGCAGCCGCCTCGGGA	0.652																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9	GRCh37	CM044574	ARSA	M		c.(877-879)gGc>gAc		arylsulfatase A	Micafungin(DB01141)						50.0	46.0	47.0					22																	51064677		2203	4300	6503	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51064677C>T	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.878G>A	22.37:g.51064677C>T	ENSP00000448440:p.Gly293Asp					ARSA_ENST00000453344.2_Missense_Mutation_p.G209D|ARSA_ENST00000356098.5_Missense_Mutation_p.G295D|ARSA_ENST00000216124.5_Missense_Mutation_p.G295D|ARSA_ENST00000547805.1_Missense_Mutation_p.G293D|ARSA_ENST00000395619.3_Missense_Mutation_p.G295D|ARSA_ENST00000395621.3_Missense_Mutation_p.G295D	p.G293D			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1283	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	293		G -> D (in MLD; late-onset).|G -> S (in MLD; adult type; causes a severe reduction of enzyme activity).			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.878G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.206728	0.95033	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.21	5.21	0.72293	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.096084	0.64402	D	0.000001	D	0.97480	0.9175	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98251	1.0493	10	0.87932	D	0	.	16.2653	0.82574	0.0:1.0:0.0:0.0	.	293	P15289	ARSA_HUMAN	D	295;295;293;293;295;209;295	ENSP00000348406:G295D;ENSP00000216124:G295D;ENSP00000448440:G293D;ENSP00000448932:G293D;ENSP00000378983:G295D;ENSP00000412542:G209D;ENSP00000378981:G295D	ENSP00000216124:G295D	G	-	2	0	ARSA	49411543	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	5.842000	0.69417	2.435000	0.82474	0.609000	0.83330	GGC		0.652	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		3	51	0	0	0	1	0	3	51				
CASR	846	broad.mit.edu	37	3	121980827	121980827	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:121980827C>T	ENST00000490131.1	+	4	1317	c.945C>T	c.(943-945)ggC>ggT	p.G315G	CASR_ENST00000296154.5_Silent_p.G315G|CASR_ENST00000498619.1_Silent_p.G315G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	315					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACGTGGTTGGCGGCACCATTG	0.587																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(943-945)ggC>ggT		calcium-sensing receptor	Cinacalcet(DB01012)						59.0	52.0	54.0					3																	121980827		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980827C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.945C>T	3.37:g.121980827C>T						CASR_ENST00000296154.5_Silent_p.G315G|CASR_ENST00000490131.1_Silent_p.G315G	p.G315G	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1383	+			315					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.945C>T	CCDS3010.1																																																																																				0.587	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		4	257	0	0	0	1	0	4	257				
GSG2	83903	broad.mit.edu	37	17	3629075	3629075	+	Nonsense_Mutation	SNP	C	C	T	rs143259437	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:3629075C>T	ENST00000325418.4	+	1	1865	c.1846C>T	c.(1846-1848)Cga>Tga	p.R616*	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										AGAGCAAATGCGAACCAAGTT	0.493																																						ENST00000325418.4																			0											c.(1846-1848)Cga>Tga		germ cell associated 2 (haspin)							104.0	101.0	102.0					17																	3629075		2203	4300	6503	SO:0001587	stop_gained	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3629075C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1846C>T	17.37:g.3629075C>T	ENSP00000325290:p.Arg616*					ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	p.R616*	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1865	+			616			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Nonsense_Mutation	SNP	ENST00000325418.4	37	c.1846C>T	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	c	17.44	3.389675	0.61956	.	.	ENSG00000177602	ENST00000325418	.	.	.	4.7	2.4	0.29515	.	0.312616	0.27956	N	0.017167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.8234	10.2856	0.43564	0.6793:0.3207:0.0:0.0	.	.	.	.	X	616	.	ENSP00000325290:R616X	R	+	1	2	GSG2	3575824	0.759000	0.28416	0.406000	0.26421	0.044000	0.14063	1.353000	0.34045	0.349000	0.23975	-0.259000	0.10710	CGA		0.493	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		63	423	0	0	0	1	0	63	423				
ARHGAP10	79658	broad.mit.edu	37	4	148802993	148802993	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:148802993A>G	ENST00000336498.3	+	10	1183	c.944A>G	c.(943-945)gAc>gGc	p.D315G	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGCAGGGGGACGGAGAGGTG	0.408																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(943-945)gAc>gGc		Rho GTPase activating protein 10							148.0	144.0	145.0					4																	148802993		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148802993A>G	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.944A>G	4.37:g.148802993A>G	ENSP00000336923:p.Asp315Gly						p.D315G	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	10	1183	+	all_hematologic(180;0.151)	Renal(17;0.0166)	315			PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.944A>G	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368824	0.24771	.	.	ENSG00000071205	ENST00000336498	T	0.40756	1.02	4.94	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053409	0.85682	D	0.000000	T	0.38692	0.1050	L	0.56769	1.78	0.80722	D	1	B	0.31026	0.304	B	0.29077	0.098	T	0.19257	-1.0311	10	0.19590	T	0.45	.	14.2898	0.66270	1.0:0.0:0.0:0.0	.	315	A1A4S6	RHG10_HUMAN	G	315	ENSP00000336923:D315G	ENSP00000336923:D315G	D	+	2	0	ARHGAP10	149022443	1.000000	0.71417	0.826000	0.32828	0.073000	0.16967	8.306000	0.89962	1.853000	0.53794	0.482000	0.46254	GAC		0.408	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		7	429	0	0	0	1	0	7	429				
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	137					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(394-399)tgc>tg		exostosin-like glycosyltransferase 1																																				SO:0001651	inframe_deletion	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349533_26349535delCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.396_398delCCT	1.37:g.26349542_26349544delCCT	ENSP00000363398:p.Leu137del						p.CL132del	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1263_1265	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132					Q6GSC1	In_Frame_Del	DEL	ENST00000374280.3	37	c.396_398delCCT	CCDS271.1																																																																																				0.606	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		8	223						8	223	---	---	---	---
KRT8P47	644743	broad.mit.edu	37	1	44570056	44570058	+	lincRNA	DEL	CTG	CTG	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:44570056_44570058delCTG	ENST00000434244.1	+	0	2053_2055																											TCCCAGCCGTCTGCTGCTGCTGC	0.576																																						ENST00000434244.1																			0																																																			0							g.chr1:44570056_44570058delCTG																													1.37:g.44570065_44570067delCTG														0	2053_2055	+									RNA	DEL	ENST00000434244.1	37																																																																																						0.576	RP5-1198O20.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000022875.2			8	350						8	350	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		8	22						8	22	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:145562117delA	ENST00000355594.4	+	10	1892	c.1805delA	c.(1804-1806)gaafs	p.E602fs		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1804-1806)gafs		ankyrin repeat domain 35							35.0	44.0	41.0					1																	145562117		2202	4300	6502	SO:0001589	frameshift_variant	148741							g.chr1:145562117delA	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1805delA	1.37:g.145562117delA	ENSP00000347802:p.Glu602fs						p.E602fs	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1892	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		602					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Frame_Shift_Del	DEL	ENST00000355594.4	37	c.1805delA	CCDS919.1																																																																																				0.577	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		9	387						9	387	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	650						7	650	---	---	---	---
RIT1	6016	broad.mit.edu	37	1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-	rs372170139		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)aacfs	p.N201fs	RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(601-603)acfs		Ras-like without CAAX 1							302.0	310.0	308.0					1																	155870237		2203	4300	6503	SO:0001589	frameshift_variant	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870237delT	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.602delA	1.37:g.155870237delT	ENSP00000357306:p.Asn201fs					RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000461050.1_5'UTR	p.N201fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		6	806	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		201					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Frame_Shift_Del	DEL	ENST00000368323.3	37	c.602delA	CCDS1123.1																																																																																				0.413	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		8	2041						8	2041	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L	RP11-544M22.8_ENST00000447167.1_RNA	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	19					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(55-60)cta>ct		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161059028_161059030delAGC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.57_59delGCT	1.37:g.161059037_161059039delAGC	ENSP00000356991:p.Leu22del						p.LL21del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	359_361	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		21					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.57_59delGCT	CCDS1216.1																																																																																				0.567	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		9	660						9	660	---	---	---	---
LOXL3	84695	broad.mit.edu	37	2	74763923	74763924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:74763923_74763924insC	ENST00000264094.3	-	5	895_896	c.824_825insG	c.(823-825)ggcfs	p.G275fs	LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.G275fs|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.G275fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649																																						ENST00000264094.3																			1	Insertion - Frameshift(1)	p.A277fs*57(1)	large_intestine(1)	endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(823-825)gccfs		lysyl oxidase-like 3																																				SO:0001589	frameshift_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763923_74763924insC	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.825dupG	2.37:g.74763931_74763931dupC	ENSP00000264094:p.Gly275fs					LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs	p.A275fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			5	895_896	-			275			SRCR 2.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Frame_Shift_Ins	INS	ENST00000264094.3	37	c.824_825insG	CCDS1953.1																																																																																				0.649	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		8	364						8	364	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		8	351						8	351	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000282272.8_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																						ENST00000409153.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1693-1695)tfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197943383_197943384delTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs					ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron	p.H565fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1875_1876	-			811					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000409153.1	37	c.1693_1694delCA																																																																																					0.411	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		14	70						14	70	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195404592	195404592	+	lincRNA	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:195404592delT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		TTTGTTGTTGTTTTAGGAGAT	0.348																																						ENST00000445430.1																			0																																																			0							g.chr3:195404592delT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404592delT														0	1454	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.348	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			34	167						34	167	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-	rs71180116|rs374076986	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(52-54)del		huntingtin																																				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3076604_3076606delCAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_54delCAG	4.37:g.3076613_3076615delCAG	ENSP00000347184:p.Gln38del						p.Q38del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	1	197_199	+		all_epithelial(65;0.18)	38			Poly-Gln.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.52_54delCAG	CCDS43206.1																																																																																				0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	6						3	6	---	---	---	---
MIR5689HG	106660610	broad.mit.edu	37	6	10443752	10443753	+	lincRNA	INS	-	-	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:10443752_10443753insA	ENST00000366312.2	+	0	76																											tgatgaattccaaaaatgttgt	0.401																																						ENST00000366312.2																			0																																																			0							g.chr6:10443752_10443753insA																													6.37:g.10443757_10443757dupA														0	76	+									RNA	INS	ENST00000366312.2	37																																																																																						0.401	RP1-290I10.7-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000039814.1			2	4						2	4	---	---	---	---
TDP2	51567	broad.mit.edu	37	6	24654677	24654682	+	In_Frame_Del	DEL	GGAAAA	GGAAAA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:24654677_24654682delGGAAAA	ENST00000378198.4	-	5	764_769	c.594_599delTTTTCC	c.(592-600)ccttttcca>cca	p.198_200PFP>P	TDP2_ENST00000341060.3_In_Frame_Del_p.140_142PFP>P|TDP2_ENST00000545995.1_In_Frame_Del_p.228_230PFP>P|TDP2_ENST00000478285.1_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	198					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TTTGGTACTTGGAAAAGGAATAATCT	0.272								Direct reversal of damage																														ENST00000341060.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(418-426)cca>cc	Direct reversal of damage	tyrosyl-DNA phosphodiesterase 2																																				SO:0001651	inframe_deletion	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24654677_24654682delGGAAAA	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.594_599delTTTTCC	6.37:g.24654677_24654682delGGAAAA	ENSP00000367440:p.Pro198_Phe199del					TDP2_ENST00000545995.1_In_Frame_Del_p.PFP228del|TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000378198.4_In_Frame_Del_p.PFP198del	p.PFP140del			O95551	TYDP2_HUMAN			4	815_820	-			198					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	In_Frame_Del	DEL	ENST00000378198.4	37	c.420_425delTTTTCC	CCDS4557.1																																																																																				0.272	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			33	289						33	289	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62687982	62687983	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:62687982_62687983insT	ENST00000281156.4	-	4	749_750	c.471_472insA	c.(469-474)aaattcfs	p.F158fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGAACCAGGAATTTTTTAATCT	0.351																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(469-474)aatcctfs		KH domain containing, RNA binding, signal transduction associated 2																																				SO:0001589	frameshift_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62687982_62687983insT	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.472dupA	6.37:g.62687988_62687988dupT	ENSP00000281156:p.Phe158fs						p.NP157fs	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	4	749_750	-			157					A8K7M8|Q8N4I4|Q8TCZ4	Frame_Shift_Ins	INS	ENST00000281156.4	37	c.471_472insA	CCDS4963.1																																																																																				0.351	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		65	374						65	374	---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|PPIL6_ENST00000424445.2_Intron|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112.0	120.0	117.0					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			9	683						9	683	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AATTAGGATTGAAAAAAAAACC	0.347																																						ENST00000265723.4																			1	Deletion - Frameshift(1)	p.S339fs*3(1)	lung(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	GRCh37	CD034702|CI034710	ABCB4	D|I		c.(1015-1017)aatfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074281_87074282insA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1016dupT	7.37:g.87074290_87074290dupA	ENSP00000265723:p.Ser339fs					ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs	p.N339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			10	1126_1127	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		339			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.1015_1016insT	CCDS5606.1																																																																																				0.347	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		7	192						7	192	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs372773235|rs146191724	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:100384030_100384033delTTGT	ENST00000348028.3	+	0	7143				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505														1390	0.277556	0.3434	0.2406	5008	,	,		19485	0.0774		0.4602	False		,,,				2504	0.2331					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100384030_100384033delTTGT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100384038_100384041delTTGT						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7124	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	5						7	5	---	---	---	---
IMPA1P	650747	broad.mit.edu	37	8	82539414	82539414	+	RNA	DEL	A	A	-	rs34397379		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:82539414delA	ENST00000522318.1	-	0	127									inositol(myo)-1(or 4)-monophosphatase 1 pseudogene																		AGAAATATACAAAAAAAAAAT	0.313																																						ENST00000522318.1																			0																																																			0							g.chr8:82539414delA			8q21.13	2014-03-18			ENSG00000251521	ENSG00000251521			33956	pseudogene	pseudogene							Standard	NG_007612		Approved				OTTHUMG00000164680		8.37:g.82539414delA														0	127	-									RNA	DEL	ENST00000522318.1	37																																																																																						0.313	IMPA1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000379721.1			3	4						3	4	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)aggfs	p.R298fs	MLLT3_ENST00000475957.1_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(892-894)ggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144.0	150.0	148.0					9																	20413952		2203	4300	6503	SO:0001589	frameshift_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413952delT	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.892delA	9.37:g.20413952delT	ENSP00000369695:p.Arg298fs					MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR	p.R298fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	1178	-			298					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Frame_Shift_Del	DEL	ENST00000380338.4	37	c.892delA	CCDS6494.1																																																																																				0.393	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	914						7	914	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78973707	78973709	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:78973707_78973709delGAT	ENST00000545128.1	+	37	5990_5992	c.5452_5454delGAT	c.(5452-5454)gatdel	p.D1822del		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1822	AC 1. {ECO:0000250}.|Asp-rich.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTATGATGAGGATGATGATGATG	0.468																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(5452-5454)del		proprotein convertase subtilisin/kexin type 5																																				SO:0001651	inframe_deletion	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78973707_78973709delGAT		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5452_5454delGAT	9.37:g.78973716_78973718delGAT	ENSP00000446280:p.Asp1822del						p.D1822del	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			37	5990_5992	+			639					F5H2G7|Q13527|Q96EP4	In_Frame_Del	DEL	ENST00000545128.1	37	c.5452_5454delGAT	CCDS55320.1																																																																																				0.468	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	830						7	830	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:52569667_52569669delAGC	ENST00000373993.1	-	10	1662_1664	c.1618_1620delGCT	c.(1618-1620)gctdel	p.A540del	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'Flank|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000395489.2_In_Frame_Del_p.A533del|A1CF_ENST00000374001.2_In_Frame_Del_p.A532del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	540					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1597-1599)del		APOBEC1 complementation factor																																				SO:0001651	inframe_deletion	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52569667_52569669delAGC	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1618_1620delGCT	10.37:g.52569676_52569678delAGC	ENSP00000363105:p.Ala540del					A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del	p.A533del	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			14	1993_1995	-			540					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	In_Frame_Del	DEL	ENST00000373993.1	37	c.1597_1599delGCT	CCDS7242.1																																																																																				0.512	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		12	351						12	351	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60703785	60703787	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:60703785_60703787delGGA	ENST00000453848.2	+	11	2636_2638	c.2478_2480delGGA	c.(2476-2481)agggag>agg	p.E835del	TMEM132A_ENST00000005286.4_In_Frame_Del_p.E836del			Q24JP5	T132A_HUMAN	transmembrane protein 132A	835	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.|Glu-rich.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGAAGCCAGggaggaggaggag	0.635																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(2479-2484)agg>ag		transmembrane protein 132A																																				SO:0001651	inframe_deletion	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60703785_60703787delGGA	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2478_2480delGGA	11.37:g.60703794_60703796delGGA	ENSP00000405823:p.Glu835del					TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del	p.RE827del	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			11	2634_2636	+			826			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	In_Frame_Del	DEL	ENST00000453848.2	37	c.2481_2483delGGA	CCDS44618.1																																																																																				0.635	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		7	394						7	394	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		9	889						9	889	---	---	---	---
RP11-283I3.6	0	broad.mit.edu	37	12	385899	385900	+	RNA	DEL	AA	AA	-	rs35383776|rs556980581|rs111691040	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:385899_385900delAA	ENST00000570140.1	-	0	389_390																											AGTTCCAGGGAAAAAAAAAAAA	0.48																																						ENST00000570140.1																			0																																																			0							g.chr12:385899_385900delAA																													12.37:g.385909_385910delAA														0	389_390	-									RNA	DEL	ENST00000570140.1	37																																																																																						0.480	RP11-283I3.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000421260.1			4	6						4	6	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		11	1574						11	1574	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40716292	40716294	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:40716292_40716294delTGA	ENST00000298910.7	+	37	5547_5549	c.5489_5491delTGA	c.(5488-5493)ttgatg>ttg	p.M1831del		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1831					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTGATGACTTGATGAAGAAAGC	0.3																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(5488-5493)ttg>t		leucine-rich repeat kinase 2																																				SO:0001651	inframe_deletion	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40716292_40716294delTGA	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5489_5491delTGA	12.37:g.40716295_40716297delTGA	ENSP00000298910:p.Met1831del						p.LM1830del	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			37	5547_5549	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1830					A6NJU2|Q6ZS50|Q8NCX9	In_Frame_Del	DEL	ENST00000298910.7	37	c.5489_5491delTGA	CCDS31774.1																																																																																				0.300	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		54	356						54	356	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25319304	25319304	+	RNA	DEL	G	G	-	rs200554896		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:25319304delG	ENST00000549804.2	+	0	977				SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-10_ENST00000363791.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TTTTTTTTTTGGAAAGGTGAA	0.393																																						ENST00000549804.2																			0																				42.0	39.0	40.0					15																	25319304		875	1991	2866			0							g.chr15:25319304delG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25319304delG						SNORD116-10_ENST00000363791.1_RNA								0	977	+									RNA	DEL	ENST00000549804.2	37																																																																																						0.393	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			8	445						8	445	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25337049	25337050	+	RNA	DEL	GA	GA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:25337049_25337050delGA	ENST00000546682.1	+	0	969				SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000384430.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-23_ENST00000384645.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTGGAGCTGGAGAGAGAGAGA	0.5																																						ENST00000546682.1																			0																	2,2680		1,0,1340						-3.0	0.0			129	8,5082		4,0,2541	no	intergenic				5,0,3881	A1A1,A1R,RR		0.1572,0.0746,0.1287				10,7762						0							g.chr15:25337049_25337050delGA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25337059_25337060delGA						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	969	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.500	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			9	942						9	942	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-	rs542176654		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304				AC074051.1_ENST00000408882.1_RNA																							GCAGggtgacggtggtggtggtg	0.483																																						ENST00000569895.1																			0																																																			0							g.chr16:5313074_5313076delGGT																													16.37:g.5313083_5313085delGGT														0	304	+									RNA	DEL	ENST00000569895.1	37																																																																																						0.483	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			10	125						10	125	---	---	---	---
LOC100294341	100294341	broad.mit.edu	37	17	43596433	43596433	+	RNA	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:43596433delT	ENST00000253803.2	+	0	267																											TTTTTGCCGGTTTTGGCCTAC	0.478																																						ENST00000253803.2																			0																																																			0							g.chr17:43596433delT																													17.37:g.43596433delT														0	267	+									RNA	DEL	ENST00000253803.2	37																																																																																						0.478	RP11-798G7.5-201	KNOWN	basic	antisense	antisense				10	4221						10	4221	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		8	500						8	500	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|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)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			10	755						10	755	---	---	---	---
ZNF45	7596	broad.mit.edu	37	19	44417694	44417695	+	Frame_Shift_Del	DEL	TT	TT	-	rs577243801		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:44417694_44417695delTT	ENST00000269973.5	-	10	2983_2984	c.1893_1894delAA	c.(1891-1896)caaagafs	p.R632fs	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Frame_Shift_Del_p.R632fs	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	632					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GTGTGAACTCTTTGATGGGCTT	0.485																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1891-1896)cagafs		zinc finger protein 45																																				SO:0001589	frameshift_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417694_44417695delTT	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1893_1894delAA	19.37:g.44417694_44417695delTT	ENSP00000269973:p.Arg632fs					ZNF45_ENST00000589703.1_Frame_Shift_Del_p.QR631fs|RP11-15A1.2_ENST00000586247.1_RNA	p.QR631fs	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	2983_2984	-			631					P17016|P78472|Q9P1U9	Frame_Shift_Del	DEL	ENST00000269973.5	37	c.1893_1894delAA	CCDS12632.1																																																																																				0.485	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		112	559						112	559	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885|rs71292114		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGACTGAGATGTAAGTTGTTGG	0.446																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038813_11038814insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038814_11038814dupT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1389_1390	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.446	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	1349						7	1349	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-	rs374572591		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		7	400						7	400	---	---	---	---
