#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
PCDH9	5101	broad.mit.edu	37	13	67801398	67801398	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr13:67801398T>C	ENST00000377865.2	-	1	1309	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000544246.1_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G			Q9HC56	PCDH9_HUMAN	protocadherin 9	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CACATCTGTGTCCTTATCTGA	0.383																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1174-1176)gAc>gGc		protocadherin 9							118.0	114.0	115.0					13																	67801398		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801398T>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1175A>G	13.37:g.67801398T>C	ENSP00000367096:p.Asp392Gly					PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000377865.2_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G	p.D392G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1866	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	392			Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1175A>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996635	0.54147	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.89917	0.972;1.0;1.0;1.0	P;D;D;D	0.97110	0.883;1.0;0.999;1.0	D	0.93490	0.6835	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	392;392;392;392	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	G	392	ENSP00000442186:D392G;ENSP00000367096:D392G;ENSP00000401699:D392G;ENSP00000332060:D392G;ENSP00000367092:D392G	ENSP00000332060:D392G	D	-	2	0	PCDH9	66699399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAC		0.383	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	138	0	0	0	1	0	5	138				
SEC31A	22872	broad.mit.edu	37	4	83788357	83788357	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr4:83788357G>C	ENST00000395310.2	-	9	1177	c.995C>G	c.(994-996)tCt>tGt	p.S332C	SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000432794.1_Missense_Mutation_p.S332C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	332	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCATGATAGAATAAACACT	0.413																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(994-996)tCt>tGt		SEC31 homolog A (S. cerevisiae)							132.0	119.0	124.0					4																	83788357		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83788357G>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.995C>G	4.37:g.83788357G>C	ENSP00000378721:p.Ser332Cys					SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C	p.S332C			O94979	SC31A_HUMAN			9	1158	-		Hepatocellular(203;0.114)	332			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.995C>G	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238745	0.95240	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68331	1.57;1.57;1.57;1.42;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;-0.32;1.57;1.57	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84999	0.5597	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.998;0.998;0.988;0.999;0.989;1.0;0.995;0.997;0.998	D;D;P;P;D;D;D;P;D;D	0.75484	0.945;0.929;0.891;0.806;0.978;0.923;0.986;0.878;0.926;0.967	D	0.86835	0.2013	10	0.87932	D	0	-20.5567	19.8364	0.96659	0.0:0.0:1.0:0.0	.	327;332;332;332;332;332;332;332;332;104	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;.;SC31A_HUMAN;.	C	332;332;332;327;332;332;332;332;332;332;332;332;332;104;332;332	ENSP00000337602:S332C;ENSP00000426886:S332C;ENSP00000378721:S332C;ENSP00000408027:S327C;ENSP00000426569:S332C;ENSP00000407944:S332C;ENSP00000400926:S332C;ENSP00000325087:S332C;ENSP00000309070:S332C;ENSP00000421633:S332C;ENSP00000421464:S332C;ENSP00000424635:S332C;ENSP00000347329:S332C;ENSP00000264405:S104C;ENSP00000424451:S332C;ENSP00000425999:S332C	ENSP00000264405:S104C	S	-	2	0	SEC31A	84007381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.799000	0.99117	2.765000	0.95021	0.573000	0.79308	TCT		0.413	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		3	81	0	0	0	1	0	3	81				
MAN2A1	4124	broad.mit.edu	37	5	109200789	109200789	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:109200789T>G	ENST00000261483.4	+	21	4276	c.3224T>G	c.(3223-3225)tTt>tGt	p.F1075C	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1075					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGAAAAGGGTTTGATTGTCGG	0.453																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3223-3225)tTt>tGt		mannosidase, alpha, class 2A, member 1							159.0	142.0	148.0					5																	109200789		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109200789T>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3224T>G	5.37:g.109200789T>G	ENSP00000261483:p.Phe1075Cys					MAN2A1_ENST00000505313.1_3'UTR	p.F1075C	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	21	4276	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1075					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3224T>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338413	0.41398	.	.	ENSG00000112893	ENST00000261483	T	0.79454	-1.27	5.53	4.35	0.52113	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.055992	0.64402	D	0.000001	D	0.88265	0.6390	M	0.87456	2.885	0.52501	D	0.999951	D	0.76494	0.999	D	0.74674	0.984	D	0.88928	0.3371	9	.	.	.	-16.9903	12.1853	0.54234	0.1281:0.0:0.0:0.8719	.	1075	Q16706	MA2A1_HUMAN	C	1075	ENSP00000261483:F1075C	.	F	+	2	0	MAN2A1	109228688	1.000000	0.71417	0.289000	0.24876	0.030000	0.12068	4.152000	0.58111	1.003000	0.39130	0.528000	0.53228	TTT		0.453	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			5	56	0	0	0	1	0	5	56				
FMO4	2329	broad.mit.edu	37	1	171301877	171301877	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:171301877G>C	ENST00000367749.3	+	7	987	c.657G>C	c.(655-657)tgG>tgC	p.W219C	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	219					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGGTACCTGGGTTCTTGGGC	0.363																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(655-657)tgG>tgC		flavin containing monooxygenase 4							146.0	144.0	145.0					1																	171301877		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171301877G>C	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.657G>C	1.37:g.171301877G>C	ENSP00000356723:p.Trp219Cys					FMO4_ENST00000462992.1_3'UTR	p.W219C	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			7	987	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		219					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.657G>C	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354361	0.61293	.	.	ENSG00000076258	ENST00000367749	T	0.66280	-0.2	5.93	5.02	0.67125	.	0.127611	0.64402	D	0.000018	D	0.82481	0.5046	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88566	0.3126	10	0.87932	D	0	-8.1658	14.524	0.67873	0.0707:0.0:0.9293:0.0	.	219	P31512	FMO4_HUMAN	C	219	ENSP00000356723:W219C	ENSP00000356723:W219C	W	+	3	0	FMO4	169568501	1.000000	0.71417	0.999000	0.59377	0.551000	0.35334	8.447000	0.90332	1.505000	0.48720	0.655000	0.94253	TGG		0.363	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		8	113	0	0	0	1	0	8	113				
KIAA1109	84162	broad.mit.edu	37	4	123202796	123202796	+	Silent	SNP	A	A	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr4:123202796A>G	ENST00000264501.4	+	52	9277	c.8904A>G	c.(8902-8904)ccA>ccG	p.P2968P	KIAA1109_ENST00000388738.3_Silent_p.P2968P|KIAA1109_ENST00000455637.1_Silent_p.P2968P			Q2LD37	K1109_HUMAN	KIAA1109	2968					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCAGCTACCAGAAGGCTTAG	0.388																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(8902-8904)ccA>ccG		KIAA1109							113.0	106.0	109.0					4																	123202796		1824	4089	5913	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123202796A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8904A>G	4.37:g.123202796A>G						KIAA1109_ENST00000388738.3_Silent_p.P2968P|KIAA1109_ENST00000455637.1_Silent_p.P2968P	p.P2968P			Q2LD37	K1109_HUMAN			52	9277	+			2968					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.8904A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	9.414	1.081333	0.20309	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.46	-7.83	0.01201	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	1.4871	0.02449	0.3497:0.1707:0.0853:0.3943	.	.	.	.	G	926	.	.	R	+	1	2	KIAA1109	123422246	0.544000	0.26441	0.916000	0.36221	0.993000	0.82548	-0.241000	0.08940	-1.599000	0.01605	-0.438000	0.05819	AGA		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		6	90	0	0	0	1	0	6	90				
TFCP2L1	29842	broad.mit.edu	37	2	122038720	122038720	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr2:122038720C>G	ENST00000263707.5	-	2	287	c.190G>C	c.(190-192)Gag>Cag	p.E64Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	64					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTCAGCGTCTCTTCATGCAGC	0.637																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(190-192)Gag>Cag		transcription factor CP2-like 1							80.0	84.0	83.0					2																	122038720		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122038720C>G	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.190G>C	2.37:g.122038720C>G	ENSP00000263707:p.Glu64Gln						p.E64Q	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			2	287	-	Renal(3;0.01)		64					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.190G>C	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176257	0.94846	.	.	ENSG00000115112	ENST00000263707	T	0.18338	2.22	5.2	5.2	0.72013	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.53528	-0.8426	10	0.34782	T	0.22	.	18.7572	0.91837	0.0:1.0:0.0:0.0	.	64;64	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	Q	64	ENSP00000263707:E64Q	ENSP00000263707:E64Q	E	-	1	0	TFCP2L1	121755190	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	7.818000	0.86416	2.429000	0.82318	0.655000	0.94253	GAG		0.637	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		7	95	0	0	0	1	0	7	95				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	89	0	0	0	1	0	3	89				
LYN	4067	broad.mit.edu	37	8	56860229	56860229	+	Silent	SNP	C	C	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr8:56860229C>A	ENST00000519728.1	+	4	527	c.231C>A	c.(229-231)atC>atA	p.I77I	LYN_ENST00000520220.2_Silent_p.I56I	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	77	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ATGATGGCATCCACCCGGACG	0.498																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(166-168)atC>atA		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							175.0	159.0	165.0					8																	56860229		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56860229C>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.231C>A	8.37:g.56860229C>A						LYN_ENST00000519728.1_Silent_p.I77I	p.I56I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		4	442	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	77					A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.168C>A	CCDS6162.1																																																																																				0.498	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		7	123	1	0	0.00198382	1	0.00210781	7	123				
KIF21A	55605	broad.mit.edu	37	12	39763969	39763969	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr12:39763969T>G	ENST00000361418.5	-	2	154	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	KIF21A_ENST00000395670.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	47	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTAAAAGCCTTATCTTTCCCT	0.393																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(139-141)Aag>Cag		kinesin family member 21A							123.0	120.0	121.0					12																	39763969		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763969T>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.139A>C	12.37:g.39763969T>G	ENSP00000354878:p.Lys47Gln					KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q	p.K47Q			Q7Z4S6	KI21A_HUMAN			2	558	-		Lung NSC(34;0.179)|all_lung(34;0.213)	47			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.139A>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445287	0.83993	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.47	5.47	0.80525	Kinesin, motor domain (4);	0.000000	0.52532	D	0.000066	D	0.83538	0.5276	L	0.53561	1.675	0.58432	D	0.999992	P;D;D;D;D	0.89917	0.829;0.999;0.988;1.0;0.963	P;D;D;D;P	0.91635	0.499;0.997;0.92;0.999;0.747	D	0.85291	0.1067	10	0.87932	D	0	.	15.8762	0.79166	0.0:0.0:0.0:1.0	.	47;47;47;47;47	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	Q	47	ENSP00000354851:K47Q;ENSP00000379029:K47Q;ENSP00000445606:K47Q;ENSP00000354878:K47Q;ENSP00000438075:K47Q	ENSP00000344501:K47Q	K	-	1	0	KIF21A	38050236	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	7.757000	0.85209	2.206000	0.71126	0.528000	0.53228	AAG		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	96	0	0	0	1	0	8	96				
KIAA1429	25962	broad.mit.edu	37	8	95538760	95538760	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr8:95538760T>C	ENST00000297591.5	-	8	1787	c.1712A>G	c.(1711-1713)gAc>gGc	p.D571G	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	571					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGCTAAATGGTCACCAAGTCT	0.403																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1711-1713)gAc>gGc		KIAA1429							134.0	132.0	133.0					8																	95538760		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538760T>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1712A>G	8.37:g.95538760T>C	ENSP00000297591:p.Asp571Gly					KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G	p.D571G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1787	-	Breast(36;3.29e-05)		571					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1712A>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791398	0.70452	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.47177	0.85;0.85;0.85	5.95	5.95	0.96441	.	0.062105	0.64402	D	0.000003	T	0.38348	0.1037	N	0.24115	0.695	0.45662	D	0.99858	P;P	0.40476	0.718;0.718	B;B	0.39258	0.295;0.295	T	0.32693	-0.9897	10	0.54805	T	0.06	-15.4389	16.4069	0.83677	0.0:0.0:0.0:1.0	.	571;571	Q69YN4-4;Q69YN4	.;VIR_HUMAN	G	571	ENSP00000297591:D571G;ENSP00000395600:D571G;ENSP00000398390:D571G	ENSP00000297591:D571G	D	-	2	0	KIAA1429	95607936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.721000	0.47260	2.272000	0.75746	0.460000	0.39030	GAC		0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		6	140	0	0	0	1	0	6	140				
ALDH2	217	broad.mit.edu	37	12	112221026	112221026	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr12:112221026G>A	ENST00000261733.2	+	3	345	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	95					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTTGGCGCCGCATGGACGCA	0.637			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(283-285)cGc>cAc		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						67.0	78.0	74.0					12																	112221026		2203	4299	6502	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112221026G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.284G>A	12.37:g.112221026G>A	ENSP00000261733:p.Arg95His					ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T	p.R95H	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			3	345	+			95					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.284G>A	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.603686	0.87157	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000261733;ENST00000553044	T	0.76578	-1.03	5.57	3.41	0.39046	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.101452	0.64402	D	0.000004	T	0.68851	0.3046	L	0.57536	1.79	0.80722	D	1	P;B	0.46912	0.886;0.014	B;B	0.32533	0.147;0.015	T	0.73827	-0.3860	10	0.54805	T	0.06	.	13.4074	0.60922	0.1482:0.0:0.8518:0.0	.	95;95	F8VXI5;P05091	.;ALDH2_HUMAN	H	76;95;95	ENSP00000261733:R95H	ENSP00000261733:R95H	R	+	2	0	ALDH2;RP11-162P23.2	110705409	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.595000	0.82710	1.352000	0.45808	0.651000	0.88453	CGC		0.637	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		4	169	0	0	0	1	0	4	169				
LGSN	51557	broad.mit.edu	37	6	63990991	63990991	+	Silent	SNP	G	G	A	rs141217825	byFrequency	TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr6:63990991G>A	ENST00000370657.4	-	4	498	c.465C>T	c.(463-465)acC>acT	p.T155T	LGSN_ENST00000370658.5_Silent_p.T155T			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	155					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAACTCTAAAGGTTGATAACT	0.403													G|||	5	0.000998403	0.0038	0.0	5008	,	,		12920	0.0		0.0	False		,,,				2504	0.0					ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(463-465)acC>acT		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)	G	,	11,4395	17.9+/-39.9	0,11,2192	137.0	128.0	131.0		465,465	2.7	0.5	6	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LGSN	NM_001143940.1,NM_016571.2	,	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	,	155/209,155/510	63990991	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990991G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.465C>T	6.37:g.63990991G>A						LGSN_ENST00000370657.4_Silent_p.T155T	p.T155T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			4	498	-			155					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.465C>T	CCDS4964.1																																																																																				0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		6	93	0	0	0	1	0	6	93				
LRP1B	53353	broad.mit.edu	37	2	141625171	141625171	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr2:141625171G>A	ENST00000389484.3	-	27	5538	c.4567C>T	c.(4567-4569)Cgc>Tgc	p.R1523C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1523					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGGCTGGCGACTGGGATGG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4567-4569)Cgc>Tgc		low density lipoprotein receptor-related protein 1B							149.0	135.0	140.0					2																	141625171		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625171G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4567C>T	2.37:g.141625171G>A	ENSP00000374135:p.Arg1523Cys	TSP Lung(27;0.18)					p.R1523C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	27	5538	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1523					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4567C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036423	0.54896	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.92048	-2.96;-2.96	5.42	4.51	0.55191	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97081	0.9046	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	D	0.97845	1.0271	10	0.66056	D	0.02	.	15.0623	0.71964	0.0:0.0:0.8526:0.1474	.	706;1523	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	C	1523;1461;668	ENSP00000374135:R1523C;ENSP00000413239:R668C	ENSP00000374135:R1523C	R	-	1	0	LRP1B	141341641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.526000	0.53509	1.228000	0.43614	0.655000	0.94253	CGC		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	112	0	0	0	1	0	10	112				
MUT	4594	broad.mit.edu	37	6	49412360	49412360	+	Silent	SNP	A	A	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr6:49412360A>C	ENST00000274813.3	-	9	1795	c.1668T>G	c.(1666-1668)tcT>tcG	p.S556S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	556					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTTGCCCGAGATGCATCCA	0.433																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1666-1668)tcT>tcG		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						184.0	182.0	183.0					6																	49412360		2203	4300	6503	SO:0001819	synonymous_variant	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49412360A>C		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1668T>G	6.37:g.49412360A>C							p.S556S	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			9	1795	-	Lung NSC(77;0.0376)		556					A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	ENST00000274813.3	37	c.1668T>G	CCDS4924.1																																																																																				0.433	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			7	200	0	0	0	1	0	7	200				
MAN2A1	4124	broad.mit.edu	37	5	109200801	109200801	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:109200801T>C	ENST00000261483.4	+	21	4288	c.3236T>C	c.(3235-3237)tTc>tCc	p.F1079S	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1079					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATTGTCGGTTCTCTAGCAAA	0.463																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3235-3237)tTc>tCc		mannosidase, alpha, class 2A, member 1							164.0	144.0	151.0					5																	109200801		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109200801T>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3236T>C	5.37:g.109200801T>C	ENSP00000261483:p.Phe1079Ser					MAN2A1_ENST00000505313.1_3'UTR	p.F1079S	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	21	4288	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1079					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3236T>C	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682908	0.47991	.	.	ENSG00000112893	ENST00000261483	T	0.77620	-1.11	5.53	5.53	0.82687	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.191337	0.46145	D	0.000317	T	0.75752	0.3892	L	0.61218	1.895	0.50171	D	0.999852	B	0.28128	0.201	B	0.29267	0.1	T	0.72330	-0.4326	9	.	.	.	-11.1991	15.9662	0.79974	0.0:0.0:0.0:1.0	.	1079	Q16706	MA2A1_HUMAN	S	1079	ENSP00000261483:F1079S	.	F	+	2	0	MAN2A1	109228700	1.000000	0.71417	0.756000	0.31282	0.389000	0.30415	4.162000	0.58177	2.223000	0.72356	0.528000	0.53228	TTC		0.463	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			4	52	0	0	0	1	0	4	52				
AGAP4	119016	broad.mit.edu	37	10	51225502	51225502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr10:51225502G>A	ENST00000425119.2	-	7	1605	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	AGAP8_ENST00000602930.1_Nonsense_Mutation_p.R478*	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		494	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						TCCAGAGATCGCACACGGGAA	0.537																																						ENST00000602930.1																			0				breast(1)|endometrium(1)|lung(2)|ovary(2)	6						c.(1432-1434)Cga>Tga		ArfGAP with GTPase domain, ankyrin repeat and PH domain 8							75.0	79.0	78.0					10																	51225502		2189	4258	6447	SO:0001587	stop_gained	728404				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51225502G>A																												ENST00000425119.2:c.1480C>T	10.37:g.51225502G>A	ENSP00000415452:p.Arg494*					AGAP8_ENST00000425119.2_Nonsense_Mutation_p.R494*	p.R478*	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN			9	1981	-			494			Arf-GAP.			Nonsense_Mutation	SNP	ENST00000425119.2	37	c.1432C>T	CCDS41522.1	.	.	.	.	.	.	.	.	.	.	g	17.87	3.496079	0.64186	.	.	ENSG00000174194	ENST00000311652;ENST00000425119	.	.	.	.	.	.	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8849	0.24193	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	270;494	.	ENSP00000309985:R270X	R	-	1	2	AGAP8	50895508	1.000000	0.71417	0.033000	0.17914	0.033000	0.12548	6.471000	0.73562	0.107000	0.17824	0.109000	0.15622	CGA		0.537	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048022.2			5	220	0	0	0	1	0	5	220				
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166.0	157.0	160.0					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		4	171	0	0	0	1	0	4	171				
WDR33	55339	broad.mit.edu	37	2	128476956	128476956	+	Silent	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr2:128476956G>A	ENST00000322313.4	-	16	2801	c.2643C>T	c.(2641-2643)ccC>ccT	p.P881P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	881					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTGAGGTCCGGGGGGTCCTT	0.627																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2641-2643)ccC>ccT		WD repeat domain 33							77.0	84.0	82.0					2																	128476956		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128476956G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2643C>T	2.37:g.128476956G>A							p.P881P	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2801	-	Colorectal(110;0.1)		881					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2643C>T	CCDS2150.1																																																																																				0.627	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		4	92	0	0	0	1	0	4	92				
INO80	54617	broad.mit.edu	37	15	41377751	41377751	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr15:41377751C>T	ENST00000361937.3	-	7	1113	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	INO80_ENST00000401393.3_Missense_Mutation_p.R230Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	230	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCATCTCTTCGTCTTTTTTT	0.448																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(688-690)cGa>cAa		INO80 complex subunit							100.0	98.0	99.0					15																	41377751		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41377751C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.689G>A	15.37:g.41377751C>T	ENSP00000355205:p.Arg230Gln					INO80_ENST00000401393.3_Missense_Mutation_p.R230Q	p.R230Q			Q9ULG1	INO80_HUMAN			7	1113	-			230			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.689G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602252	0.66445	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90900	-2.75;-2.75	5.82	5.82	0.92795	.	0.058496	0.64402	D	0.000002	T	0.80518	0.4638	N	0.14661	0.345	0.45791	D	0.998674	P	0.43352	0.804	B	0.28011	0.085	T	0.80204	-0.1479	10	0.19590	T	0.45	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	230	Q9ULG1	INO80_HUMAN	Q	230	ENSP00000355205:R230Q;ENSP00000384686:R230Q	ENSP00000355205:R230Q	R	-	2	0	INO80	39165043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.667000	0.68067	2.765000	0.95021	0.650000	0.86243	CGA		0.448	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		3	58	0	0	0	1	0	3	58				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	49	0	0	0	1	0	3	49				
GRHL3	57822	broad.mit.edu	37	1	24669481	24669481	+	Missense_Mutation	SNP	A	A	G	rs143169996		TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:24669481A>G	ENST00000350501.5	+	11	1512	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S|GRHL3_ENST00000361548.4_Missense_Mutation_p.N462S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	462					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTCATCCCCAATGTGCACTTC	0.662													A|||	1	0.000199681	0.0	0.0	5008	,	,		16955	0.0		0.001	False		,,,				2504	0.0					ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1384-1386)aAt>aGt		grainyhead-like 3 (Drosophila)		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	109.0	117.0	114.0		1247,1400,1385,1385	5.3	1.0	1	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense	GRHL3	NM_001195010.1,NM_021180.3,NM_198173.2,NM_198174.2	46,46,46,46	0,5,6498	GG,GA,AA		0.0465,0.0227,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	416/557,467/608,462/603,462/627	24669481	5,13001	2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669481A>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1385A>G	1.37:g.24669481A>G	ENSP00000288955:p.Asn462Ser					GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000350501.5_Missense_Mutation_p.N462S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S	p.N462S	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	11	1615	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	462					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1385A>G	CCDS252.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	14.19	2.461375	0.43736	2.27E-4	4.65E-4	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11495	2.98;2.77;2.96;2.98;2.98	5.27	5.27	0.74061	.	0.135823	0.64402	D	0.000003	T	0.07503	0.0189	N	0.19112	0.55	0.48830	D	0.999712	B;P;P	0.35272	0.181;0.493;0.493	B;B;B	0.29942	0.051;0.109;0.109	T	0.40156	-0.9578	10	0.30854	T	0.27	-33.1163	14.5217	0.67853	1.0:0.0:0.0:0.0	.	416;467;462	A2A297;Q8TE85-2;G3XAF0	.;.;.	S	462;369;462;416;467	ENSP00000354943:N462S;ENSP00000340543:N369S;ENSP00000288955:N462S;ENSP00000348333:N416S;ENSP00000236255:N467S	ENSP00000236255:N467S	N	+	2	0	GRHL3	24542068	1.000000	0.71417	0.960000	0.40013	0.457000	0.32468	4.952000	0.63618	2.216000	0.71823	0.459000	0.35465	AAT		0.662	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		4	203	0	0	0	1	0	4	203				
ZNF768	79724	broad.mit.edu	37	16	30536940	30536940	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr16:30536940G>A	ENST00000380412.5	-	2	696	c.521C>T	c.(520-522)gCg>gTg	p.A174V	ZNF768_ENST00000562803.1_Missense_Mutation_p.A143V	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	174					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AAGCATCTCCGCACCTTCCTG	0.498																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(520-522)gCg>gTg		zinc finger protein 768							115.0	121.0	119.0					16																	30536940		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536940G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.521C>T	16.37:g.30536940G>A	ENSP00000369777:p.Ala174Val					ZNF768_ENST00000562803.1_Missense_Mutation_p.A143V	p.A174V	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	696	-			174					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.521C>T	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872270	0.33069	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.06768	3.26	5.06	3.09	0.35607	.	0.316995	0.23030	N	0.052760	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37888	-0.9686	10	0.40728	T	0.16	0.0028	6.5279	0.22310	0.084:0.0:0.4832:0.4328	.	174	Q9H5H4	ZN768_HUMAN	V	174;143	ENSP00000369777:A174V	ENSP00000369777:A174V	A	-	2	0	ZNF768	30444441	0.098000	0.21812	0.975000	0.42487	0.543000	0.35085	1.619000	0.36965	0.716000	0.32124	-0.268000	0.10319	GCG		0.498	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		4	208	0	0	0	1	0	4	208				
WDR76	79968	broad.mit.edu	37	15	44150892	44150892	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr15:44150892G>A	ENST00000263795.6	+	11	1503	c.1433G>A	c.(1432-1434)aGg>aAg	p.R478K	WDR76_ENST00000381246.2_Missense_Mutation_p.R414K|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	478										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TATGATGCAAGGCGATTGAAT	0.388																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1432-1434)aGg>aAg		WD repeat domain 76							154.0	149.0	151.0					15																	44150892		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44150892G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1433G>A	15.37:g.44150892G>A	ENSP00000263795:p.Arg478Lys					WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.R414K	p.R478K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	11	1503	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	478					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1433G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724563	0.89298	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.69175	-0.38;-0.38	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.87269	2.87	0.52501	D	0.999953	D	0.71674	0.998	D	0.68943	0.961	D	0.85916	0.1443	10	0.66056	D	0.02	-9.8978	18.8584	0.92262	0.0:0.0:1.0:0.0	.	478	Q9H967	WDR76_HUMAN	K	478;414	ENSP00000263795:R478K;ENSP00000370645:R414K	ENSP00000263795:R478K	R	+	2	0	WDR76	41938184	1.000000	0.71417	0.971000	0.41717	0.553000	0.35397	7.961000	0.87903	2.804000	0.96469	0.462000	0.41574	AGG		0.388	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		4	79	0	0	0	1	0	4	79				
CALR	811	broad.mit.edu	37	19	13051093	13051093	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr19:13051093C>T	ENST00000316448.5	+	5	602	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	177	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	ACTGATTGTGCGGCCAGACAA	0.532																																						ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(529-531)Cgg>Tgg		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						113.0	122.0	119.0					19																	13051093		2203	4300	6503	SO:0001583	missense	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13051093C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.529C>T	19.37:g.13051093C>T	ENSP00000320866:p.Arg177Trp						p.R177W	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN			5	602	+			177			N-domain.		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	c.529C>T	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249285	0.59103	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.55588	0.51	5.6	3.44	0.39384	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.108387	0.64402	D	0.000008	T	0.78660	0.4318	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.83753	0.0210	10	0.87932	D	0	-28.0286	13.4087	0.60929	0.3156:0.6844:0.0:0.0	.	177	P27797	CALR_HUMAN	W	177;56	ENSP00000320866:R177W	ENSP00000320866:R177W	R	+	1	2	CALR	12912093	0.340000	0.24792	0.996000	0.52242	0.522000	0.34438	0.620000	0.24403	0.656000	0.30886	-0.314000	0.08810	CGG		0.532	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		4	99	0	0	0	1	0	4	99				
BAZ1B	9031	broad.mit.edu	37	7	72891702	72891702	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr7:72891702G>A	ENST00000339594.4	-	7	2427	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R697C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	697					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCAGATCTGCGCAAGCAGAGC	0.463																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2089-2091)Cgc>Tgc		bromodomain adjacent to zinc finger domain, 1B							94.0	90.0	91.0					7																	72891702		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891702G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2089C>T	7.37:g.72891702G>A	ENSP00000342434:p.Arg697Cys					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R697C	p.R697C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2427	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	697					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2089C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760343	0.69763	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60548	0.18;0.18	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69416	-0.5151	10	0.39692	T	0.17	-17.793	18.9316	0.92568	0.0:0.0:1.0:0.0	.	697	Q9UIG0	BAZ1B_HUMAN	C	697	ENSP00000342434:R697C;ENSP00000385442:R697C	ENSP00000342434:R697C	R	-	1	0	BAZ1B	72529638	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.148000	0.77389	2.797000	0.96272	0.561000	0.74099	CGC		0.463	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		9	71	0	0	0	1	0	9	71				
SNTN	132203	broad.mit.edu	37	3	63638399	63638399	+	Silent	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr3:63638399T>C	ENST00000343837.3	+	1	56	c.36T>C	c.(34-36)tcT>tcC	p.S12S	SNTN_ENST00000496807.1_Silent_p.S8S	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	12						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						AGGACAAATCTCTCCACTTGG	0.488																																						ENST00000496807.1																			0				endometrium(2)|ovary(1)	3						c.(22-24)tcT>tcC		sentan, cilia apical structure protein							133.0	101.0	112.0					3																	63638399		2203	4300	6503	SO:0001819	synonymous_variant	132203					cilium	calcium ion binding	g.chr3:63638399T>C	AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817			33706	protein-coding gene	gene with protein product	"""S100A-like protein"""					18829862	Standard	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000343837.3:c.36T>C	3.37:g.63638399T>C						SNTN_ENST00000343837.3_Silent_p.S12S	p.S8S			A6NMZ2	SNTAN_HUMAN			1	26	+			12					B7FF65	Silent	SNP	ENST00000343837.3	37	c.24T>C	CCDS33779.1																																																																																				0.488	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1	NM_001080537		3	42	0	0	0	1	0	3	42				
ZNF70	7621	broad.mit.edu	37	22	24086056	24086056	+	Silent	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr22:24086056G>A	ENST00000341976.3	-	2	1732	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGACTTGCCGCACAGATTGC	0.547																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(1270-1272)tgC>tgT		zinc finger protein 70							113.0	111.0	112.0					22																	24086056		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086056G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1272C>T	22.37:g.24086056G>A							p.C424C	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1732	-			424						Silent	SNP	ENST00000341976.3	37	c.1272C>T	CCDS13812.1																																																																																				0.547	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		4	148	0	0	0	1	0	4	148				
LINC00969	440993	broad.mit.edu	37	3	195412724	195412725	+	lincRNA	DEL	TT	TT	-			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr3:195412724_195412725delTT	ENST00000445430.1	+	0	3921_3922									long intergenic non-protein coding RNA 969																		TTGACAAAACTTTGAACGAGGC	0.401																																						ENST00000445430.1																			0																																																			0							g.chr3:195412724_195412725delTT	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.195412724_195412725delTT														0	3921_3922	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.401	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	33						7	33	---	---	---	---
GUSBP1	728411	broad.mit.edu	37	5	21491295	21491302	+	RNA	DEL	AAAAAAAA	AAAAAAAA	-	rs374549451|rs200338631		TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:21491295_21491302delAAAAAAAA	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										attctatctcaaaaaaaaaaaaaaaaaa	0.471																																						ENST00000607545.1																			0																																																			0							g.chr5:21491295_21491302delAAAAAAAA	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491303_21491310delAAAAAAAA								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	DEL	ENST00000607545.1	37																																																																																						0.471	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		3	3						3	3	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		4	3						4	3	---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113531851	113531851	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr12:113531851delC	ENST00000257600.3	+	5	1677	c.1174delC	c.(1174-1176)cccfs	p.P392fs	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	392					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P392A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGGTAAGAATCCCGAGGATGT	0.622																																						ENST00000257600.3																			1	Substitution - Missense(1)	p.P392A(1)	kidney(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1174-1176)ccfs		deltex homolog 1 (Drosophila)							29.0	25.0	27.0					12																	113531851		2198	4293	6491	SO:0001589	frameshift_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113531851delC	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1174delC	12.37:g.113531851delC	ENSP00000257600:p.Pro392fs					DTX1_ENST00000547974.1_3'UTR	p.P392fs	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			5	1677	+			392					O60630|Q9BS04	Frame_Shift_Del	DEL	ENST00000257600.3	37	c.1174delC	CCDS9164.1																																																																																				0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			2	4						2	4	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		4	5						4	5	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs371932459|rs144931984|rs149686515		TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TAAATGaaaataaaaaaataaa	0.302																																						ENST00000546471.1																			0																																																			0							g.chr16:21817398_21817399insA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817405_21817405dupA														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.302	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		6	10						6	10	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	60						7	60	---	---	---	---
