#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CRHR1	1394	broad.mit.edu	37	17	43898756	43898756	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:43898756T>G	ENST00000398285.3	+	4	277	c.277T>G	c.(277-279)Tgg>Ggg	p.W93G	CRHR1_ENST00000577353.1_Missense_Mutation_p.W93G|CRHR1_ENST00000314537.5_Missense_Mutation_p.W93G|CRHR1_ENST00000352855.5_Missense_Mutation_p.W53G|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Intron	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	93					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CAATGGCAGCTGGGCCGCCCG	0.642																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(277-279)Tgg>Ggg		corticotropin releasing hormone receptor 1							52.0	59.0	57.0					17																	43898756		1962	4158	6120	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43898756T>G	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.277T>G	17.37:g.43898756T>G	ENSP00000381333:p.Trp93Gly		Somatic				CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000352855.5_Missense_Mutation_p.W53G|CRHR1_ENST00000398285.3_Missense_Mutation_p.W93G|CRHR1_ENST00000577353.1_Missense_Mutation_p.W93G	p.W93G	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	WXS	Illumina GAIIx	Phase_I	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	4	502	+	Colorectal(2;0.0416)		93					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.277T>G	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075111	0.36566	.	.	ENSG00000120088	ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	D;D;D;T	0.84442	-1.85;-1.85;-1.85;0.66	4.84	4.84	0.62591	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	H	0.97440	4.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95979	0.8976	10	0.72032	D	0.01	.	12.7009	0.57032	0.0:0.0:0.0:1.0	.	93;93;53;93	P34998-4;P34998;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.	G	93;93;93;53	ENSP00000381333:W93G;ENSP00000326060:W93G;ENSP00000239167:W93G;ENSP00000344068:W53G	ENSP00000326060:W93G	W	+	1	0	CRHR1	41254537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.352000	0.79404	2.164000	0.68074	0.533000	0.62120	TGG		0.642	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			6	113	0	0	0	0.001984	0	6	113				
PCDH11X	27328	broad.mit.edu	37	X	91134175	91134175	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:91134175C>T	ENST00000373094.1	+	2	3781	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	PCDH11X_ENST00000406881.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S979F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S979F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	979					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACTCTATCTCCAAGTGTTCC	0.512																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2935-2937)tCc>tTc		protocadherin 11 X-linked							271.0	208.0	229.0					X																	91134175		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134175C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2936C>T	X.37:g.91134175C>T	ENSP00000362186:p.Ser979Phe		Somatic				PCDH11X_ENST00000361655.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S979F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S979F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S979F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S979F	p.S979F	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			2	3781	+			979					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2936C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428825	0.62844	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.35	5.35	0.76521	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	M	0.75777	2.31	0.51767	D	0.999937	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.997;0.999	T	0.66646	-0.5871	10	0.87932	D	0	.	16.9575	0.86263	0.0:1.0:0.0:0.0	.	979;979;979;979;979;979;979;979	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	979	ENSP00000378746:S979F;ENSP00000362186:S979F;ENSP00000362189:S979F;ENSP00000355040:S979F;ENSP00000362180:S979F;ENSP00000423762:S979F;ENSP00000355105:S979F;ENSP00000384758:S979F;ENSP00000298274:S979F	ENSP00000298274:S979F	S	+	2	0	PCDH11X	91020831	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.209000	0.77916	2.211000	0.71520	0.600000	0.82982	TCC		0.512	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		65	141	0	0	0	0.014410	0	65	141				
PGK2	5232	broad.mit.edu	37	6	49754598	49754598	+	Silent	SNP	G	G	A	rs549102825		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:49754598G>A	ENST00000304801.3	-	1	455	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	101					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCACTTCTGCGCCTACACAGT	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19522	0.0		0.0	False		,,,				2504	0.0					ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(301-303)ggC>ggT		phosphoglycerate kinase 2							123.0	115.0	117.0					6																	49754598		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754598G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.303C>T	6.37:g.49754598G>A			Somatic					p.G101G	NM_138733.4	NP_620061.2	WXS	Illumina GAIIx	Phase_I	P07205	PGK2_HUMAN			1	455	-	Lung NSC(77;0.0402)		101					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.303C>T	CCDS4930.1																																																																																				0.522	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			9	116	0	0	0	0.008291	0	9	116				
NAA25	80018	broad.mit.edu	37	12	112509842	112509842	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr12:112509842G>A	ENST00000261745.4	-	10	1141	c.893C>T	c.(892-894)tCt>tTt	p.S298F	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	298						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTTTTCTGCAGAATAATGTAC	0.393																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(892-894)tCt>tTt		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							78.0	66.0	70.0					12																	112509842		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112509842G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.893C>T	12.37:g.112509842G>A	ENSP00000261745:p.Ser298Phe		Somatic					p.S298F	NM_024953.3	NP_079229.2	WXS	Illumina GAIIx	Phase_I	Q14CX7	NAA25_HUMAN			10	1141	-			298					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.893C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274075	0.80580	.	.	ENSG00000111300	ENST00000261745	T	0.48522	0.81	5.8	5.8	0.92144	.	0.119985	0.64402	D	0.000019	T	0.53578	0.1805	M	0.68952	2.095	0.58432	D	0.999999	P;P	0.46784	0.884;0.884	P;P	0.44732	0.459;0.459	T	0.58880	-0.7558	10	0.72032	D	0.01	-12.116	16.3293	0.83004	0.0:0.1319:0.8681:0.0	.	298;298	A8K8X0;Q14CX7	.;NAA25_HUMAN	F	298	ENSP00000261745:S298F	ENSP00000261745:S298F	S	-	2	0	NAA25	110994225	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.702000	0.74628	2.744000	0.94065	0.655000	0.94253	TCT		0.393	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		12	29	0	0	0	0.002450	0	12	29				
TFAP2D	83741	broad.mit.edu	37	6	50683027	50683027	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:50683027C>G	ENST00000008391.3	+	2	466	c.238C>G	c.(238-240)Cac>Gac	p.H80D		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGAGTTTCAGCACAGCCACCC	0.597																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(238-240)Cac>Gac		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							218.0	177.0	191.0					6																	50683027		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683027C>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.238C>G	6.37:g.50683027C>G	ENSP00000008391:p.His80Asp		Somatic					p.H80D	NM_172238.3	NP_758438.2	WXS	Illumina GAIIx	Phase_I	Q7Z6R9	AP2D_HUMAN			2	466	+	Lung NSC(77;0.0334)		80						Missense_Mutation	SNP	ENST00000008391.3	37	c.238C>G	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346461	0.24426	.	.	ENSG00000008197	ENST00000008391	D	0.96856	-4.15	5.07	5.07	0.68467	.	0.112655	0.64402	D	0.000010	D	0.87791	0.6266	N	0.08118	0	0.80722	D	1	B	0.28850	0.225	B	0.27887	0.084	D	0.85879	0.1421	10	0.37606	T	0.19	-4.4082	18.8076	0.92045	0.0:1.0:0.0:0.0	.	80	Q7Z6R9	AP2D_HUMAN	D	80	ENSP00000008391:H80D	ENSP00000008391:H80D	H	+	1	0	TFAP2D	50790986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.498000	0.84270	0.655000	0.94253	CAC		0.597	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		23	62	0	0	0	0.012319	0	23	62				
UBE2NL	389898	broad.mit.edu	37	X	142967630	142967630	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:142967630C>T	ENST00000370494.1	+	1	458	c.428C>T	c.(427-429)gCa>gTa	p.A143V		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	143						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCTAGAGCATGGACTAGG	0.428																																						ENST00000370494.1																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(427-429)gCa>gTa		ubiquitin-conjugating enzyme E2N-like							131.0	108.0	115.0					X																	142967630		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967630C>T			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.428C>T	X.37:g.142967630C>T	ENSP00000359525:p.Ala143Val		Somatic					p.A143V	NM_001012989.1	NP_001013007.1	WXS	Illumina GAIIx	Phase_I	Q5JXB2	UE2NL_HUMAN			1	458	+	Acute lymphoblastic leukemia(192;6.56e-05)		143					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.428C>T	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	3.871	-0.027895	0.07589	.	.	ENSG00000102069	ENST00000370494	T	0.38401	1.14	1.06	1.06	0.20224	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.31312	U	0.007878	T	0.29556	0.0737	L	0.57130	1.785	0.37965	D	0.933097	B	0.31503	0.326	B	0.32289	0.143	T	0.25293	-1.0136	10	0.72032	D	0.01	-0.6883	5.2487	0.15510	0.0:1.0:0.0:0.0	.	143	Q5JXB2	UE2NL_HUMAN	V	143	ENSP00000359525:A143V	ENSP00000359525:A143V	A	+	2	0	UBE2NL	142795296	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	4.562000	0.60816	0.846000	0.35142	0.181000	0.17075	GCA		0.428	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		38	107	0	0	0	0.008740	0	38	107				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		8	44	0	0	0	0.008291	0	8	44				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	31	0	0	0	0.009096	0	3	31				
TTC39A	22996	broad.mit.edu	37	1	51755792	51755792	+	Splice_Site	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:51755792C>A	ENST00000447632.2	-	16	1535		c.e16-1		TTC39A_ENST00000451380.1_Splice_Site|TTC39A_ENST00000530004.1_Splice_Site|TTC39A_ENST00000262675.7_Splice_Site|TTC39A_ENST00000371750.5_Splice_Site|TTC39A_ENST00000413473.2_Splice_Site|TTC39A_ENST00000534098.1_Splice_Site			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A									p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TACTCGTTCTCTGAAAATAGG	0.473																																						ENST00000447632.2																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						c.e16-1		tetratricopeptide repeat domain 39A							44.0	41.0	42.0					1																	51755792		1877	4122	5999	SO:0001630	splice_region_variant	22996						binding	g.chr1:51755792C>A	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1487-1G>T	1.37:g.51755792C>A			Somatic				TTC39A_ENST00000262675.7_Splice_Site|TTC39A_ENST00000530004.1_Splice_Site|TTC39A_ENST00000371750.5_Splice_Site|TTC39A_ENST00000451380.1_Splice_Site|TTC39A_ENST00000413473.2_Splice_Site|TTC39A_ENST00000534098.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5SRH9	TT39A_HUMAN			16	1535	-								B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Splice_Site	SNP	ENST00000447632.2	37			.	.	.	.	.	.	.	.	.	.	C	23.4	4.410887	0.83340	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0004	0.92830	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC39A	51528380	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.005000	0.63972	2.837000	0.97791	0.591000	0.81541	.		0.473	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		Intron	9	31	1	0	2.62144e-13	0.004482	3.33638e-13	9	31				
GRIN3A	116443	broad.mit.edu	37	9	104357086	104357086	+	Intron	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:104357086C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.V43M	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AACTCCTCCACGCTCAGAGAC	0.542																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(127-129)Gtg>Atg		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						66.0	66.0	66.0					9																	104357086		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357086C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15444G>A	9.37:g.104357086C>T			Somatic				GRIN3A_ENST00000361820.3_Intron	p.V43M	NM_147180.2	NP_671709.1	WXS	Illumina GAIIx	Phase_I	Q96LZ3	CANB2_HUMAN			1	197	-		Acute lymphoblastic leukemia(62;0.0527)	40			EF-hand 1.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.127G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243578	0.22796	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.71934	-0.61	3.84	2.92	0.33932	EF-hand-like domain (1);	0.461581	0.15985	N	0.235089	T	0.62258	0.2413	L	0.45581	1.43	0.30671	N	0.753398	B	0.21381	0.055	B	0.20384	0.029	T	0.63346	-0.6658	10	0.51188	T	0.08	-16.2384	10.1657	0.42879	0.0:0.8974:0.0:0.1026	.	40	Q96LZ3	CANB2_HUMAN	M	43	ENSP00000363939:V43M	ENSP00000363939:V43M	V	-	1	0	PPP3R2	103396907	1.000000	0.71417	0.940000	0.37924	0.170000	0.22686	1.926000	0.40084	1.173000	0.42796	0.563000	0.77884	GTG		0.542	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			4	79	0	0	0	0.001984	0	4	79				
CD300A	11314	broad.mit.edu	37	17	72469738	72469738	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:72469738A>C	ENST00000360141.3	+	2	392	c.104A>C	c.(103-105)cAg>cCg	p.Q35P	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	35	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CTGAGTGTGCAGTGTCCCTAT	0.542																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(103-105)cAg>cCg		CD300a molecule							87.0	84.0	85.0					17																	72469738		2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469738A>C	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.104A>C	17.37:g.72469738A>C	ENSP00000353259:p.Gln35Pro		Somatic				CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron	p.Q35P	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	WXS	Illumina GAIIx	Phase_I	Q9UGN4	CLM8_HUMAN			2	392	+			35			Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.104A>C	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	A	9.669	1.146286	0.21288	.	.	ENSG00000167851	ENST00000360141	T	0.62788	0.0	4.06	0.381	0.16228	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.793260	0.10555	N	0.660925	T	0.68824	0.3043	L	0.56280	1.765	0.37011	D	0.895711	D	0.89917	1.0	D	0.75020	0.985	T	0.66814	-0.5828	10	0.62326	D	0.03	.	3.7594	0.08598	0.5716:0.2023:0.2261:0.0	.	35	Q9UGN4	CLM8_HUMAN	P	35	ENSP00000353259:Q35P	ENSP00000353259:Q35P	Q	+	2	0	CD300A	69981333	0.998000	0.40836	0.061000	0.19648	0.018000	0.09664	0.598000	0.24074	-0.068000	0.12953	0.254000	0.18369	CAG		0.542	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		29	78	0	0	0	0.006320	0	29	78				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(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.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	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.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys		Somatic				NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		8	51	0	0	0	0.003080	0	8	51				
XPO7	23039	broad.mit.edu	37	8	21839275	21839275	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr8:21839275T>C	ENST00000252512.9	+	10	1091	c.991T>C	c.(991-993)Tgc>Cgc	p.C331R	XPO7_ENST00000434536.1_Missense_Mutation_p.C340R|XPO7_ENST00000433566.4_Missense_Mutation_p.C332R	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	331				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCATGAGTTTTGCAGACTACT	0.393																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1018-1020)Tgc>Cgc		exportin 7							135.0	124.0	128.0					8																	21839275		1838	4090	5928	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21839275T>C	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.991T>C	8.37:g.21839275T>C	ENSP00000252512:p.Cys331Arg		Somatic				XPO7_ENST00000433566.4_Missense_Mutation_p.C332R|XPO7_ENST00000252512.9_Missense_Mutation_p.C331R	p.C340R			WXS	Illumina GAIIx	Phase_I	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	10	1120	+			331	Missing (in Ref. 3; BAA34465).				O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1018T>C	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807117	0.70797	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.42513	0.97;0.97;0.97	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.092308	0.85682	D	0.000000	T	0.73171	0.3553	H	0.94183	3.505	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.97	P;D;P	0.67900	0.896;0.954;0.896	T	0.81876	-0.0731	10	0.87932	D	0	-12.3081	15.5952	0.76574	0.0:0.0:0.0:1.0	.	332;340;331	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	R	340;331;332	ENSP00000404853:C340R;ENSP00000252512:C331R;ENSP00000410249:C332R	ENSP00000252512:C331R	C	+	1	0	XPO7	21895221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.284000	0.72652	2.157000	0.67596	0.533000	0.62120	TGC		0.393	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		35	91	0	0	0	0.013726	0	35	91				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							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			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	87	0	0	0	0.004672	0	3	87				
BRWD1	54014	broad.mit.edu	37	21	40582046	40582046	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr21:40582046T>C	ENST00000333229.2	-	36	4399	c.4072A>G	c.(4072-4074)Atg>Gtg	p.M1358V	BRWD1_ENST00000342449.3_Missense_Mutation_p.M1358V|BRWD1_ENST00000380800.3_Missense_Mutation_p.M1358V	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1358	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAAATCCATTGGGGTATCT	0.353																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4072-4074)Atg>Gtg		bromodomain and WD repeat domain containing 1							84.0	84.0	84.0					21																	40582046		2202	4300	6502	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40582046T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4072A>G	21.37:g.40582046T>C	ENSP00000330753:p.Met1358Val		Somatic				BRWD1_ENST00000380800.3_Missense_Mutation_p.M1358V|BRWD1_ENST00000333229.2_Missense_Mutation_p.M1358V	p.M1358V	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			36	4150	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1358			Bromo 2.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4072A>G	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.63|19.63	3.864071|3.864071	0.71949|0.71949	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.26067|.	1.76;1.76;1.76|.	6.04|6.04	4.87|4.87	0.63330|0.63330	Bromodomain (6);Bromodomain, conserved site (1);|.	0.055336|.	0.64402|.	D|.	0.000001|.	D|D	0.85279|0.85279	0.5660|0.5660	H|H	0.94345|0.94345	3.525|3.525	0.80722|0.80722	D|D	1|1	P;P;P|.	0.50819|.	0.939;0.869;0.932|.	B;B;B|.	0.43536|.	0.263;0.263;0.423|.	D|D	0.88655|0.88655	0.3185|0.3185	10|5	0.62326|.	D|.	0.03|.	-11.3699|-11.3699	13.3848|13.3848	0.60789|0.60789	0.0:0.0:0.1314:0.8686|0.0:0.0:0.1314:0.8686	.|.	1358;1358;1358|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	V|S	1358;1358;1358;314|295	ENSP00000330753:M1358V;ENSP00000344333:M1358V;ENSP00000370178:M1358V|.	ENSP00000330753:M1358V|.	M|N	-|-	1|2	0|0	BRWD1|BRWD1	39503916|39503916	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.996000|0.996000	0.88848|0.88848	7.579000|7.579000	0.82511|0.82511	1.073000|1.073000	0.40885|0.40885	0.460000|0.460000	0.39030|0.39030	ATG|AAT		0.353	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	89	0	0	0	0.000602	0	5	89				
DNAH9	1770	broad.mit.edu	37	17	11809061	11809061	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:11809061C>T	ENST00000262442.4	+	61	11752	c.11684C>T	c.(11683-11685)cCa>cTa	p.P3895L	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.P207L|DNAH9_ENST00000454412.2_Missense_Mutation_p.P3895L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3895	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAATCGGGACCAGCCACTCCT	0.478																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11683-11685)cCa>cTa		dynein, axonemal, heavy chain 9							71.0	71.0	71.0					17																	11809061		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11809061C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11684C>T	17.37:g.11809061C>T	ENSP00000262442:p.Pro3895Leu		Somatic				DNAH9_ENST00000396001.2_Missense_Mutation_p.P207L|DNAH9_ENST00000454412.2_Missense_Mutation_p.P3895L	p.P3895L	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	61	11752	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3895			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11684C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140194	0.94560	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.09350	2.99;2.99;2.99	4.81	4.81	0.61882	Dynein heavy chain (1);	0.110364	0.64402	D	0.000007	T	0.49525	0.1562	H	0.98721	4.31	0.80722	D	1	D;D	0.58620	0.977;0.983	P;P	0.59487	0.847;0.858	T	0.72673	-0.4222	10	0.87932	D	0	.	18.4172	0.90574	0.0:1.0:0.0:0.0	.	248;3895	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	L	3895;3895;2477;207;248	ENSP00000262442:P3895L;ENSP00000414874:P3895L;ENSP00000379323:P207L	ENSP00000262442:P3895L	P	+	2	0	DNAH9	11749786	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.575000	0.82447	2.665000	0.90641	0.655000	0.94253	CCA		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		19	33	0	0	0	0.014323	0	19	33				
SCGB2A1	4246	broad.mit.edu	37	11	61977950	61977950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:61977950G>T	ENST00000244930.4	+	2	185	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	41					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						ATCTATACCTGAATACAAAGA	0.398																																						ENST00000244930.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(121-123)Gaa>Taa		secretoglobin, family 2A, member 1							111.0	115.0	114.0					11																	61977950		2202	4299	6501	SO:0001587	stop_gained	4246					extracellular region	androgen binding	g.chr11:61977950G>T	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.121G>T	11.37:g.61977950G>T	ENSP00000244930:p.Glu41*		Somatic					p.E41*	NM_002407.2	NP_002398.1	WXS	Illumina GAIIx	Phase_I	O75556	SG2A1_HUMAN			2	185	+			41						Nonsense_Mutation	SNP	ENST00000244930.4	37	c.121G>T	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083584	0.36758	.	.	ENSG00000124939	ENST00000244930	.	.	.	3.54	-0.684	0.11331	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.4597	0.07528	0.3599:0.1997:0.4405:0.0	.	.	.	.	X	41	.	ENSP00000244930:E41X	E	+	1	0	SCGB2A1	61734526	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.150000	0.10189	-0.119000	0.11830	0.555000	0.69702	GAA		0.398	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407		41	125	1	0	1.8453e-21	0.010771	2.51165e-21	41	125				
CNTNAP3	79937	broad.mit.edu	37	9	39109190	39109190	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:39109190A>T	ENST00000297668.6	-	15	2405	c.2332T>A	c.(2332-2334)Tat>Aat	p.Y778N	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Y777N|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Y690N	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	778	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCAGTGTATAAGCTGCTTCG	0.438																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(2332-2334)Tat>Aat		contactin associated protein-like 3							56.0	50.0	52.0					9																	39109190		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39109190A>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2332T>A	9.37:g.39109190A>T	ENSP00000297668:p.Tyr778Asn		Somatic				CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Y690N|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Y777N	p.Y778N	NM_033655.3	NP_387504.2	WXS	Illumina GAIIx	Phase_I	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	15	2405	-			778			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.2332T>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	9.824	1.186497	0.21870	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.15603	2.41;2.41;2.41	2.99	1.83	0.25207	.	.	.	.	.	T	0.42966	0.1226	M	0.89534	3.04	0.09310	N	1	D;D;P	0.71674	0.998;0.984;0.935	D;D;P	0.69654	0.965;0.923;0.66	T	0.16897	-1.0387	9	0.59425	D	0.04	.	6.9483	0.24530	0.8815:0.0:0.1185:0.0	.	778;777;778	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	N	778;777;690	ENSP00000297668:Y778N;ENSP00000366884:Y777N;ENSP00000350863:Y690N	ENSP00000297668:Y778N	Y	-	1	0	CNTNAP3	39099190	0.855000	0.29742	0.529000	0.27951	0.161000	0.22273	2.674000	0.46867	0.373000	0.24621	0.254000	0.18369	TAT		0.438	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		11	34	0	0	0	0.008291	0	11	34				
KIAA1109	84162	broad.mit.edu	37	4	123270439	123270439	+	Silent	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:123270439G>A	ENST00000264501.4	+	78	13780	c.13407G>A	c.(13405-13407)ggG>ggA	p.G4469G	KIAA1109_ENST00000388738.3_Silent_p.G4469G			Q2LD37	K1109_HUMAN	KIAA1109	4469					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						TAGTTGGAGGGACCATAGATG	0.383																																						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.(13405-13407)ggG>ggA		KIAA1109							151.0	161.0	158.0					4																	123270439		1905	4112	6017	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123270439G>A	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.13407G>A	4.37:g.123270439G>A			Somatic				KIAA1109_ENST00000388738.3_Silent_p.G4469G	p.G4469G			WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			78	13780	+			4469					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.13407G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	6.858	0.527696	0.13127	.	.	ENSG00000138688	ENST00000306802	T	0.69175	-0.38	5.99	-0.593	0.11667	.	0.050480	0.85682	D	0.000000	T	0.61173	0.2326	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57705	-0.7765	7	0.87932	D	0	.	0.3137	0.00292	0.3129:0.1938:0.2937:0.1996	.	.	.	.	E	845	ENSP00000304374:G845E	ENSP00000304374:G845E	G	+	2	0	KIAA1109	123489889	0.995000	0.38212	0.996000	0.52242	0.987000	0.75469	0.340000	0.19892	-0.062000	0.13088	-0.886000	0.02939	GGA		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		20	55	0	0	0	0.012319	0	20	55				
MOV10L1	54456	broad.mit.edu	37	22	50552903	50552903	+	Silent	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr22:50552903C>T	ENST00000262794.5	+	7	1061	c.978C>T	c.(976-978)gaC>gaT	p.D326D	MOV10L1_ENST00000395858.3_Silent_p.D326D|MOV10L1_ENST00000540615.1_Silent_p.D306D|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.D326D	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	326					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGATAAAGACCAGATGTGCC	0.368																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(976-978)gaC>gaT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							83.0	83.0	83.0					22																	50552903		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552903C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.978C>T	22.37:g.50552903C>T			Somatic				MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.D326D|MOV10L1_ENST00000540615.1_Silent_p.D306D|MOV10L1_ENST00000545383.1_Silent_p.D326D	p.D326D	NM_018995.2	NP_061868.1	WXS	Illumina GAIIx	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	7	1061	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	326					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.978C>T	CCDS14084.1																																																																																				0.368	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		18	65	0	0	0	0.006122	0	18	65				
TGM7	116179	broad.mit.edu	37	15	43572078	43572078	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:43572078G>A	ENST00000452443.2	-	10	1427	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	475					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TCCAGGAAGGGCAAAGAAGCT	0.592																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1423-1425)Ccc>Tcc		transglutaminase 7	L-Glutamine(DB00130)						64.0	70.0	68.0					15																	43572078		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43572078G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1423C>T	15.37:g.43572078G>A	ENSP00000389466:p.Pro475Ser		Somatic					p.P475S	NM_052955.2	NP_443187.1	WXS	Illumina GAIIx	Phase_I	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	10	1427	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	475						Missense_Mutation	SNP	ENST00000452443.2	37	c.1423C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.342496	0.01277	.	.	ENSG00000159495	ENST00000452443	T	0.78816	-1.21	4.55	-1.76	0.08006	.	0.943542	0.08900	N	0.877339	T	0.60919	0.2306	L	0.43152	1.355	0.09310	N	0.999999	B	0.20887	0.049	B	0.18263	0.021	T	0.44544	-0.9321	10	0.06494	T	0.89	-2.3354	4.0968	0.09995	0.4803:0.0:0.3543:0.1654	.	475	Q96PF1	TGM7_HUMAN	S	475	ENSP00000389466:P475S	ENSP00000389466:P475S	P	-	1	0	TGM7	41359370	0.207000	0.23482	0.014000	0.15608	0.192000	0.23643	0.287000	0.18920	-0.587000	0.05890	-0.961000	0.02630	CCC		0.592	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		30	110	0	0	0	0.013726	0	30	110				
LRRC71	149499	broad.mit.edu	37	1	156900360	156900360	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:156900360G>A	ENST00000337428.7	+	12	1434	c.1280G>A	c.(1279-1281)gGg>gAg	p.G427E	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	427										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGGGCAAAAGGGATCAAGATC	0.592																																						ENST00000337428.7																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						c.(1279-1281)gGg>gAg		leucine rich repeat containing 71							45.0	49.0	48.0					1																	156900360		2007	4163	6170	SO:0001583	missense	149499							g.chr1:156900360G>A	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1280G>A	1.37:g.156900360G>A	ENSP00000336661:p.Gly427Glu		Somatic				LRRC71_ENST00000490146.1_3'UTR	p.G427E	NM_144702.2	NP_653303.2	WXS	Illumina GAIIx	Phase_I	Q8N4P6	LRC71_HUMAN			12	1434	+			427					Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.1280G>A	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345982	0.41599	.	.	ENSG00000160838	ENST00000337428	T	0.30182	1.54	5.43	4.5	0.54988	.	0.107611	0.42053	D	0.000772	T	0.27027	0.0662	L	0.29908	0.895	0.27559	N	0.95024	P;D	0.67145	0.931;0.996	B;D	0.65323	0.444;0.934	T	0.09250	-1.0683	10	0.72032	D	0.01	-27.2603	13.1352	0.59405	0.0:0.1673:0.8327:0.0	.	427;212	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	E	427	ENSP00000336661:G427E	ENSP00000336661:G427E	G	+	2	0	LRRC71	155166984	1.000000	0.71417	0.177000	0.23020	0.010000	0.07245	3.698000	0.54771	1.484000	0.48361	0.650000	0.86243	GGG		0.592	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		2	3	0	0	0	0.004672	0	2	3				
SEC24B	10427	broad.mit.edu	37	4	110452560	110452560	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:110452560C>A	ENST00000265175.5	+	20	3327	c.3272C>A	c.(3271-3273)aCa>aAa	p.T1091K	SEC24B_ENST00000399100.2_Missense_Mutation_p.T1056K|SEC24B_ENST00000504968.2_Missense_Mutation_p.T1121K	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1091					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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGAACGGGTACAAGCACACGG	0.343																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3271-3273)aCa>aAa		SEC24 family member B							107.0	102.0	103.0					4																	110452560		1875	4122	5997	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110452560C>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3272C>A	4.37:g.110452560C>A	ENSP00000265175:p.Thr1091Lys		Somatic				SEC24B_ENST00000504968.2_Missense_Mutation_p.T1121K|SEC24B_ENST00000399100.2_Missense_Mutation_p.T1056K	p.T1091K	NM_006323.2	NP_006314.2	WXS	Illumina GAIIx	Phase_I	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	20	3327	+		Hepatocellular(203;0.217)	1091					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.3272C>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992162	0.74703	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.89485	-2.52;-2.52;-2.52	5.48	5.48	0.80851	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.89136	0.6629	M	0.74467	2.265	0.80722	D	1	B;B;B;P;P	0.37015	0.008;0.404;0.027;0.523;0.578	B;B;B;B;B	0.34038	0.008;0.062;0.026;0.108;0.174	D	0.90007	0.4118	10	0.72032	D	0.01	-21.9992	19.351	0.94387	0.0:1.0:0.0:0.0	.	1005;690;1121;1056;1091	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	K	1121;1056;1091	ENSP00000428564:T1121K;ENSP00000382051:T1056K;ENSP00000265175:T1091K	ENSP00000265175:T1091K	T	+	2	0	SEC24B	110672009	0.994000	0.37717	0.987000	0.45799	0.990000	0.78478	3.177000	0.50871	2.579000	0.87056	0.650000	0.86243	ACA		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			25	78	1	0	7.92952e-12	0.003954	9.71366e-12	25	78				
C11orf84	144097	broad.mit.edu	37	11	63585351	63585351	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:63585351A>G	ENST00000294244.4	+	2	501	c.202A>G	c.(202-204)Aag>Gag	p.K68E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	68										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TGAGGAGCCGAAGCAGCAGGT	0.667																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(202-204)Aag>Gag		chromosome 11 open reading frame 84							55.0	49.0	51.0					11																	63585351		2200	4298	6498	SO:0001583	missense	144097							g.chr11:63585351A>G	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.202A>G	11.37:g.63585351A>G	ENSP00000294244:p.Lys68Glu		Somatic					p.K68E	NM_138471.1	NP_612480.1	WXS	Illumina GAIIx	Phase_I	Q9BUA3	CK084_HUMAN			2	501	+			68					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.202A>G	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	A	7.667	0.686071	0.14973	.	.	ENSG00000168005	ENST00000294244	T	0.42900	0.96	5.18	4.05	0.47172	.	1.294160	0.05038	N	0.475756	T	0.33760	0.0874	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.22871	-1.0204	10	0.87932	D	0	-13.8555	4.6307	0.12500	0.8302:0.0:0.1698:0.0	.	68	Q9BUA3	CK084_HUMAN	E	68	ENSP00000294244:K68E	ENSP00000294244:K68E	K	+	1	0	C11orf84	63341927	0.908000	0.30866	0.255000	0.24374	0.321000	0.28281	1.375000	0.34295	1.969000	0.57287	0.459000	0.35465	AAG		0.667	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		10	17	0	0	0	0.006214	0	10	17				
GNPTAB	79158	broad.mit.edu	37	12	102159997	102159997	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr12:102159997A>C	ENST00000299314.7	-	12	1746	c.1484T>G	c.(1483-1485)tTt>tGt	p.F495C	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	495	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTCCACCAAACTGCCAGGG	0.498																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1483-1485)tTt>tGt		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							171.0	153.0	159.0					12																	102159997		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102159997A>C	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1484T>G	12.37:g.102159997A>C	ENSP00000299314:p.Phe495Cys		Somatic					p.F495C	NM_024312.4	NP_077288.2	WXS	Illumina GAIIx	Phase_I	Q3T906	GNPTA_HUMAN			12	1746	-			495			Gly-rich.		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.1484T>G	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324049	0.81580	.	.	ENSG00000111670	ENST00000299314	D	0.96522	-4.04	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95385	0.8502	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	P	0.57324	0.818	D	0.95284	0.8389	10	0.87932	D	0	-22.4447	10.202	0.43089	0.9257:0.0:0.0743:0.0	.	495	Q3T906	GNPTA_HUMAN	C	495	ENSP00000299314:F495C	ENSP00000299314:F495C	F	-	2	0	GNPTAB	100684128	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.804000	0.75186	2.193000	0.70182	0.533000	0.62120	TTT		0.498	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			40	86	0	0	0	0.009718	0	40	86				
PAQR5	54852	broad.mit.edu	37	15	69689888	69689888	+	Silent	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:69689888C>T	ENST00000340965.3	+	7	1262	c.594C>T	c.(592-594)ctC>ctT	p.L198L	PAQR5_ENST00000395407.2_Silent_p.L198L|PAQR5_ENST00000561153.1_Silent_p.L198L|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	198					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GGGACTCCCTCCCCATCTTCT	0.522																																						ENST00000340965.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						c.(592-594)ctC>ctT		progestin and adipoQ receptor family member V							182.0	149.0	161.0					15																	69689888		2199	4298	6497	SO:0001819	synonymous_variant	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69689888C>T		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.594C>T	15.37:g.69689888C>T			Somatic				RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Silent_p.L198L|PAQR5_ENST00000395407.2_Silent_p.L198L|RP11-253M7.1_ENST00000560539.1_RNA	p.L198L	NM_001104554.1	NP_001098024.1	WXS	Illumina GAIIx	Phase_I	Q9NXK6	MPRG_HUMAN			7	1262	+			198					Q8IXU2	Silent	SNP	ENST00000340965.3	37	c.594C>T	CCDS10232.1																																																																																				0.522	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		21	74	0	0	0	0.002780	0	21	74				
OR4K14	122740	broad.mit.edu	37	14	20483333	20483333	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr14:20483333G>T	ENST00000305045.2	-	1	19	c.20C>A	c.(19-21)tCc>tAc	p.S7Y		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACACCAAGGAATAGTTCTG	0.378																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(19-21)tCc>tAc		olfactory receptor, family 4, subfamily K, member 14							43.0	44.0	44.0					14																	20483333		2171	4281	6452	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483333G>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.20C>A	14.37:g.20483333G>T	ENSP00000305011:p.Ser7Tyr		Somatic					p.S7Y	NM_001004712.1	NP_001004712.1	WXS	Illumina GAIIx	Phase_I	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	19	-	all_cancers(95;0.00108)		7					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.20C>A	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	10.10	1.257248	0.22965	.	.	ENSG00000169484	ENST00000305045	T	0.54479	0.57	4.15	4.15	0.48705	.	0.215756	0.23515	N	0.047359	T	0.77624	0.4158	H	0.95539	3.685	0.21841	N	0.999515	D	0.89917	1.0	D	0.79108	0.992	T	0.70887	-0.4750	10	0.87932	D	0	.	9.2406	0.37493	0.0:0.0:0.7843:0.2157	.	7	Q8NGD5	OR4KE_HUMAN	Y	7	ENSP00000305011:S7Y	ENSP00000305011:S7Y	S	-	2	0	OR4K14	19553173	0.145000	0.22656	0.776000	0.31678	0.020000	0.10135	1.595000	0.36708	2.131000	0.65755	0.603000	0.83216	TCC		0.378	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			18	54	1	0	8.10497e-08	0.010504	9.68643e-08	18	54				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G			Somatic					p.I191I	NM_030976.1	NP_112238.1	WXS	Illumina GAIIx	Phase_I	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			6	12	0	0	0	0.001984	0	6	12				
PCSK6	5046	broad.mit.edu	37	15	101983760	101983760	+	Splice_Site	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:101983760C>A	ENST00000561177.1	-	2	569		c.e2+1		PCSK6_ENST00000398181.2_Splice_Site|PCSK6_ENST00000358417.3_Splice_Site|PCSK6_ENST00000344273.2_Splice_Site|PCSK6_ENST00000348070.1_Splice_Site			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6						determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACACTCTGTACCTGGGGGTCC	0.453																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.e3+1		proprotein convertase subtilisin/kexin type 6							121.0	125.0	123.0					15																	101983760		1893	4103	5996	SO:0001630	splice_region_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101983760C>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000561177.1:c.3838+1G>T	15.37:g.101983760C>A			Somatic				PCSK6_ENST00000561177.1_Splice_Site|PCSK6_ENST00000358417.3_Splice_Site|PCSK6_ENST00000398181.2_Splice_Site|PCSK6_ENST00000344273.2_Splice_Site		NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	WXS	Illumina GAIIx	Phase_I	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	399	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)							Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Splice_Site	SNP	ENST00000561177.1	37			.	.	.	.	.	.	.	.	.	.	C	19.55	3.848999	0.71603	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8282	0.88672	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK6	99801283	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.568000	0.67385	2.822000	0.97130	0.650000	0.86243	.		0.453	PCSK6-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000416811.5	NM_002570	Intron	7	166	1	0	0.00198382	0.001984	0.00228723	7	166				
CHGB	1114	broad.mit.edu	37	20	5903084	5903084	+	Silent	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr20:5903084C>T	ENST00000378961.4	+	4	498	c.294C>T	c.(292-294)tcC>tcT	p.S98S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	98						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCCACGAGTCCTCCAGCAGGG	0.537																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(292-294)tcC>tcT		chromogranin B (secretogranin 1)							44.0	45.0	45.0					20																	5903084		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903084C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.294C>T	20.37:g.5903084C>T			Somatic					p.S98S	NM_001819.2	NP_001810.2	WXS	Illumina GAIIx	Phase_I	P05060	SCG1_HUMAN			4	498	+			98					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.294C>T	CCDS13092.1																																																																																				0.537	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		10	20	0	0	0	0.006214	0	10	20				
TEX11	56159	broad.mit.edu	37	X	69774533	69774533	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:69774533T>G	ENST00000395889.2	-	27	2458	c.2303A>C	c.(2302-2304)cAt>cCt	p.H768P	TEX11_ENST00000374320.2_Missense_Mutation_p.H443P|TEX11_ENST00000344304.3_Missense_Mutation_p.H768P|TEX11_ENST00000374333.2_Missense_Mutation_p.H753P	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	768					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTTTCTAAATGAGGCAACTC	0.368																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2302-2304)cAt>cCt		testis expressed 11							87.0	74.0	78.0					X																	69774533		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69774533T>G	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2303A>C	X.37:g.69774533T>G	ENSP00000379226:p.His768Pro		Somatic				TEX11_ENST00000344304.3_Missense_Mutation_p.H768P|TEX11_ENST00000374333.2_Missense_Mutation_p.H753P|TEX11_ENST00000374320.2_Missense_Mutation_p.H443P	p.H768P	NM_001003811.1	NP_001003811.1	WXS	Illumina GAIIx	Phase_I	Q8IYF3	TEX11_HUMAN			27	2458	-	Renal(35;0.156)		768					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2303A>C	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	8.494	0.862722	0.17178	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.46063	1.47;1.47;0.88;1.47	4.43	1.84	0.25277	.	0.604578	0.16311	N	0.220006	T	0.24967	0.0606	L	0.29908	0.895	0.09310	N	1	P;P	0.43094	0.799;0.697	B;B	0.37833	0.259;0.133	T	0.08330	-1.0727	9	.	.	.	0.0132	5.3366	0.15961	0.0:0.1001:0.1745:0.7254	.	753;768	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	P	753;768;443;768	ENSP00000363453:H753P;ENSP00000379226:H768P;ENSP00000363440:H443P;ENSP00000340995:H768P	.	H	-	2	0	TEX11	69691258	0.716000	0.27956	0.357000	0.25798	0.729000	0.41735	2.016000	0.40971	0.146000	0.19002	0.486000	0.48141	CAT		0.368	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			17	59	0	0	0	0.004007	0	17	59				
RGAG1	57529	broad.mit.edu	37	X	109694660	109694660	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:109694660T>A	ENST00000465301.2	+	3	1061	c.815T>A	c.(814-816)aTa>aAa	p.I272K	RGAG1_ENST00000540313.1_Missense_Mutation_p.I272K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	272										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCTCACTGATAATGTCAGCT	0.498																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(814-816)aTa>aAa		retrotransposon gag domain containing 1							146.0	125.0	132.0					X																	109694660		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694660T>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.815T>A	X.37:g.109694660T>A	ENSP00000419786:p.Ile272Lys		Somatic				RGAG1_ENST00000540313.1_Missense_Mutation_p.I272K	p.I272K	NM_020769.2	NP_065820.1	WXS	Illumina GAIIx	Phase_I	Q8NET4	RGAG1_HUMAN			3	1061	+			272					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.815T>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805895	0.50421	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.59364	0.27;0.27	3.91	3.91	0.45181	.	0.000000	0.40144	N	0.001170	T	0.58148	0.2102	N	0.19112	0.55	0.43919	D	0.996568	D	0.89917	1.0	D	0.85130	0.997	T	0.55611	-0.8114	9	.	.	.	-24.8719	10.1519	0.42799	0.0:0.0:0.0:1.0	.	272	Q8NET4	RGAG1_HUMAN	K	272	ENSP00000419786:I272K;ENSP00000441452:I272K	.	I	+	2	0	RGAG1	109581316	1.000000	0.71417	0.994000	0.49952	0.633000	0.38033	2.266000	0.43320	1.756000	0.51951	0.486000	0.48141	ATA		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	180	0	0	0	0.001168	0	6	180				
TTLL6	284076	broad.mit.edu	37	17	46865173	46865173	+	Splice_Site	SNP	C	C	T	rs374777398		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:46865173C>T	ENST00000393382.3	-	11	1730	c.1589G>A	c.(1588-1590)cGg>cAg	p.R530Q	TTLL6_ENST00000433608.2_Splice_Site_p.R223Q	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTCTTCCTACCGGGCATACTC	0.542																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.e11+1		tubulin tyrosine ligase-like family, member 6		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	73.0	73.0	73.0		1589,668	5.4	1.0	17		73	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	TTLL6	NM_001130918.1,NM_173623.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	530/892,223/585	46865173	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46865173C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1589+1G>A	17.37:g.46865173C>T			Somatic				TTLL6_ENST00000433608.2_Splice_Site_p.R223_splice	p.R530_splice	NM_001130918.1	NP_001124390.1	WXS	Illumina GAIIx	Phase_I	Q8N841	TTLL6_HUMAN			11	1730	-			482						Splice_Site	SNP	ENST00000393382.3	37	c.1589_splice	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481530	0.96307	0.0	1.16E-4	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.38	5.38	0.77491	.	7739.340000	0.00166	U	0.000000	D	0.86581	0.5967	M	0.82193	2.58	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.68353	0.943;0.957;0.786	T	0.71919	-0.4447	9	0.62326	D	0.03	.	18.3115	0.90201	0.0:1.0:0.0:0.0	.	482;283;223	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	Q	530;223;208;482	.	ENSP00000302547:R223Q	R	-	2	0	TTLL6	44220172	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.708000	0.68377	2.694000	0.91930	0.555000	0.69702	CGG		0.542	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623	Missense_Mutation	39	53	0	0	0	0.006230	0	39	53				
ZNF354B	117608	broad.mit.edu	37	5	178310052	178310052	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr5:178310052A>C	ENST00000322434.3	+	5	825	c.599A>C	c.(598-600)aAt>aCt	p.N200T	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAATTCAAATTTACTTAAC	0.318																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(598-600)aAt>aCt		zinc finger protein 354B							50.0	53.0	52.0					5																	178310052		2201	4292	6493	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310052A>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.599A>C	5.37:g.178310052A>C	ENSP00000327143:p.Asn200Thr		Somatic					p.N200T	NM_058230.2	NP_478137.1	WXS	Illumina GAIIx	Phase_I	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	825	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	200					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.599A>C	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	2.565	-0.300931	0.05495	.	.	ENSG00000178338	ENST00000322434	T	0.28255	1.62	3.23	0.69	0.18039	.	.	.	.	.	T	0.19406	0.0466	L	0.42632	1.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34675	-0.9819	9	0.10902	T	0.67	-30.4082	4.2519	0.10698	0.6596:0.2174:0.123:0.0	.	200	Q96LW1	Z354B_HUMAN	T	200	ENSP00000327143:N200T	ENSP00000327143:N200T	N	+	2	0	ZNF354B	178242658	0.000000	0.05858	0.996000	0.52242	0.983000	0.72400	-1.017000	0.03630	0.035000	0.15519	0.459000	0.35465	AAT		0.318	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		33	82	0	0	0	0.012213	0	33	82				
SIAE	54414	broad.mit.edu	37	11	124543579	124543579	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:124543579C>T	ENST00000263593.3	-	1	198	c.26G>A	c.(25-27)gGg>gAg	p.G9E	SPA17_ENST00000227135.2_5'Flank|SIAE_ENST00000545756.1_5'UTR|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000532692.1_5'Flank			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	9					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.G9V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CAGCACCAGCCCGAGTACAAG	0.711																																						ENST00000263593.3																			1	Substitution - Missense(1)	p.G9V(1)	breast(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(25-27)gGg>gAg		sialic acid acetylesterase							23.0	26.0	25.0					11																	124543579		2197	4297	6494	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124543579C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.26G>A	11.37:g.124543579C>T	ENSP00000263593:p.Gly9Glu		Somatic				SIAE_ENST00000545756.1_5'UTR|SIAE_ENST00000525730.1_Intron	p.G9E			WXS	Illumina GAIIx	Phase_I	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	1	198	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	9					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.26G>A	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584496	0.46110	.	.	ENSG00000110013	ENST00000263593	D	0.84589	-1.87	4.69	2.79	0.32731	.	1.438130	0.04107	N	0.313897	T	0.73063	0.3539	N	0.19112	0.55	0.26006	N	0.982054	B	0.12630	0.006	B	0.12837	0.008	T	0.58668	-0.7596	10	0.06494	T	0.89	-2.0428	6.7038	0.23240	0.0:0.7237:0.1788:0.0974	.	9	Q9HAT2	SIAE_HUMAN	E	9	ENSP00000263593:G9E	ENSP00000263593:G9E	G	-	2	0	SIAE	124048789	0.008000	0.16893	0.140000	0.22221	0.375000	0.29983	0.501000	0.22578	0.680000	0.31366	0.467000	0.42956	GGG		0.711	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		7	15	0	0	0	0.001984	0	7	15				
CNTNAP3	79937	broad.mit.edu	37	9	39176052	39176052	+	Missense_Mutation	SNP	C	C	A	rs368430481		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:39176052C>A	ENST00000297668.6	-	7	1038	c.965G>T	c.(964-966)cGg>cTg	p.R322L	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R234L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	322	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTGAATGCCCGCGATCTTCC	0.383																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(964-966)cGg>cTg		contactin associated protein-like 3							62.0	68.0	66.0					9																	39176052		2200	4297	6497	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39176052C>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.965G>T	9.37:g.39176052C>A	ENSP00000297668:p.Arg322Leu		Somatic				CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R234L|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R322L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R322L	p.R322L	NM_033655.3	NP_387504.2	WXS	Illumina GAIIx	Phase_I	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	7	1038	-			322			Laminin G-like 1.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.965G>T	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.225118	0.01530	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	3.09	1.93	0.25924	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.53433	0.1796	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0	B;B;B;B;B	0.14023	0.007;0.01;0.001;0.001;0.0	T	0.40757	-0.9546	9	0.27785	T	0.31	.	8.5723	0.33576	0.6036:0.3963:0.0:0.0	.	322;322;322;322;322	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	L	322;322;234;322;322;234	ENSP00000297668:R322L;ENSP00000366884:R322L;ENSP00000350863:R234L;ENSP00000320728:R322L;ENSP00000366887:R322L	ENSP00000297668:R322L	R	-	2	0	CNTNAP3	39166052	0.275000	0.24201	0.001000	0.08648	0.042000	0.13812	2.173000	0.42472	0.401000	0.25424	-0.534000	0.04291	CGG		0.383	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		26	85	1	0	5.60225e-13	0.009535	7.03872e-13	26	85				
CEBPZ	10153	broad.mit.edu	37	2	37450342	37450342	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr2:37450342C>T	ENST00000234170.5	-	3	1997	c.1852G>A	c.(1852-1854)Ggt>Agt	p.G618S		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	618					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTTCTTAAACCTGGTTTTGCT	0.348																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1852-1854)Ggt>Agt		CCAAT/enhancer binding protein (C/EBP), zeta							136.0	133.0	134.0					2																	37450342		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37450342C>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1852G>A	2.37:g.37450342C>T	ENSP00000234170:p.Gly618Ser		Somatic					p.G618S	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			3	1997	-		all_hematologic(82;0.21)	618					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.1852G>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230223	0.58777	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.19938	2.11	5.59	3.8	0.43715	Armadillo-type fold (1);CCAAT-binding factor (1);	0.453162	0.27019	N	0.021323	T	0.21427	0.0516	L	0.43152	1.355	0.41330	D	0.987239	P	0.37548	0.599	B	0.39706	0.307	T	0.02477	-1.1153	10	0.54805	T	0.06	.	12.3045	0.54893	0.0:0.8628:0.0:0.1372	.	618	Q03701	CEBPZ_HUMAN	S	618	ENSP00000234170:G618S	ENSP00000234170:G618S	G	-	1	0	CEBPZ	37303846	0.953000	0.32496	0.952000	0.39060	0.975000	0.68041	2.841000	0.48223	0.841000	0.35020	0.561000	0.74099	GGT		0.348	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		5	118	0	0	0	0.003080	0	5	118				
NUP93	9688	broad.mit.edu	37	16	56852646	56852646	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr16:56852646G>A	ENST00000308159.5	+	6	681	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	NUP93_ENST00000569842.1_Missense_Mutation_p.R187Q|NUP93_ENST00000564887.1_Missense_Mutation_p.R64Q|NUP93_ENST00000542526.1_Missense_Mutation_p.R64Q	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	187					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCCTATGCGCGGCAAGTGAGT	0.443																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(190-192)cGg>cAg		nucleoporin 93kDa							110.0	107.0	108.0					16																	56852646		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56852646G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.560G>A	16.37:g.56852646G>A	ENSP00000310668:p.Arg187Gln		Somatic				NUP93_ENST00000308159.5_Missense_Mutation_p.R187Q|NUP93_ENST00000542526.1_Missense_Mutation_p.R64Q|NUP93_ENST00000569842.1_Missense_Mutation_p.R187Q	p.R64Q	NM_001242795.1	NP_001229724.1	WXS	Illumina GAIIx	Phase_I	Q8N1F7	NUP93_HUMAN			4	820	+			187					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.191G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771856	0.69992	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.44482	0.92;0.95	5.27	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	N	0.14661	0.345	0.80722	D	1	B	0.24576	0.106	B	0.12156	0.007	T	0.04825	-1.0924	10	0.38643	T	0.18	-14.6025	13.6527	0.62320	0.0756:0.0:0.9244:0.0	.	187	Q8N1F7	NUP93_HUMAN	Q	187;64	ENSP00000310668:R187Q;ENSP00000440235:R64Q	ENSP00000310668:R187Q	R	+	2	0	NUP93	55410147	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.134000	0.71689	1.359000	0.45940	0.655000	0.94253	CGG		0.443	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		3	71	0	0	0	0.009096	0	3	71				
PRSS12	8492	broad.mit.edu	37	4	119273399	119273399	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:119273399G>C	ENST00000296498.3	-	1	759	c.477C>G	c.(475-477)gaC>gaG	p.D159E		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	159	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTAGCCCCAGTCCACCTTGC	0.687																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(475-477)gaC>gaG		protease, serine, 12 (neurotrypsin, motopsin)							17.0	20.0	19.0					4																	119273399		2202	4299	6501	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119273399G>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.477C>G	4.37:g.119273399G>C	ENSP00000296498:p.Asp159Glu		Somatic					p.D159E	NM_003619.3	NP_003610.2	WXS	Illumina GAIIx	Phase_I	P56730	NETR_HUMAN			1	759	-			159			Kringle.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.477C>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732612	0.89482	.	.	ENSG00000164099	ENST00000296498	T	0.64991	-0.13	4.33	4.33	0.51752	Kringle (4);Kringle-like fold (1);	0.113372	0.56097	D	0.000028	T	0.63896	0.2550	L	0.33245	0.995	0.48395	D	0.999647	D	0.61697	0.99	P	0.57846	0.828	T	0.60875	-0.7176	10	0.30854	T	0.27	.	14.2062	0.65737	0.0:0.0:1.0:0.0	.	159	P56730	NETR_HUMAN	E	159	ENSP00000296498:D159E	ENSP00000296498:D159E	D	-	3	2	PRSS12	119492847	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.390000	0.66261	2.399000	0.81585	0.467000	0.42956	GAC		0.687	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			5	19	0	0	0	0.000602	0	5	19				
RPL3	6122	broad.mit.edu	37	22	39711444	39711444	+	Silent	SNP	A	A	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr22:39711444A>T	ENST00000216146.4	-	5	791	c.618T>A	c.(616-618)ccT>ccA	p.P206P	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.P154P|SNORD83B_ENST00000386745.1_RNA|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	206					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CTTGGTTCACAGGTACCTGCT	0.587																																						ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(616-618)ccT>ccA		ribosomal protein L3							92.0	82.0	86.0					22																	39711444		2203	4300	6503	SO:0001819	synonymous_variant	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39711444A>T	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.618T>A	22.37:g.39711444A>T			Somatic				RPL3_ENST00000401609.1_Silent_p.P154P|RPL3_ENST00000465618.1_5'UTR	p.P206P	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	WXS	Illumina GAIIx	Phase_I	P39023	RL3_HUMAN			5	791	-	Melanoma(58;0.04)		206					B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	c.618T>A	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948814	0.34377	.	.	ENSG00000100316	ENST00000427905	.	.	.	5.32	-3.02	0.05446	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32025	-0.9922	4	.	.	.	.	1.4301	0.02332	0.3502:0.111:0.3214:0.2174	.	.	.	.	S	238	.	.	C	-	1	0	RPL3	38041390	0.258000	0.24033	0.960000	0.40013	0.962000	0.63368	-0.271000	0.08572	-0.536000	0.06298	0.379000	0.24179	TGT		0.587	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		23	66	0	0	0	0.014323	0	23	66				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G			Somatic				MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	WXS	Illumina GAIIx	Phase_I	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	33	0	0	0	0.004672	0	3	33				
ATP8B3	148229	broad.mit.edu	37	19	1809703	1809703	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:1809703C>T	ENST00000310127.6	-	4	579	c.341G>A	c.(340-342)cGt>cAt	p.R114H	ATP8B3_ENST00000525591.1_Missense_Mutation_p.R61H|ATP8B3_ENST00000539485.1_Missense_Mutation_p.R114H|ATP8B3_ENST00000526092.2_Missense_Mutation_p.R61H	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	114					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGTAGGCACGGTTGTTGGC	0.632																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(340-342)cGt>cAt		ATPase, aminophospholipid transporter, class I, type 8B, member 3							55.0	64.0	61.0					19																	1809703		1980	4151	6131	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1809703C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.341G>A	19.37:g.1809703C>T	ENSP00000311336:p.Arg114His		Somatic				ATP8B3_ENST00000526092.1_Missense_Mutation_p.R61H|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R114H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R61H	p.R114H			WXS	Illumina GAIIx	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	574	-		Hepatocellular(1079;0.137)	114					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.341G>A	CCDS45901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.234|8.234	0.805380|0.805380	0.16467|0.16467	.|.	.|.	ENSG00000130270|ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339|ENST00000533993	T;T;T;T|.	0.74842|.	-0.88;-0.88;-0.88;-0.88|.	4.44|4.44	0.99|0.99	0.19807|0.19807	.|.	0.338800|.	0.25890|.	N|.	0.027622|.	T|T	0.33118|0.33118	0.0852|0.0852	L|L	0.31371|0.31371	0.925|0.925	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;P;P|.	0.71870|.	0.975;0.791;0.877|.	T|T	0.31280|0.31280	-0.9949|-0.9949	10|6	0.62326|0.87932	D|D	0.03|0	.|.	6.18|6.18	0.20465|0.20465	0.0:0.6644:0.1552:0.1803|0.0:0.6644:0.1552:0.1803	.|.	61;114;61|.	F5H3R9;O60423;Q7Z485|.	.;AT8B3_HUMAN;.|.	H|M	114;114;61;61;61|77	ENSP00000311336:R114H;ENSP00000443574:R114H;ENSP00000437115:R61H;ENSP00000445204:R61H|.	ENSP00000311336:R114H|ENSP00000444334:V77M	R|V	-|-	2|1	0|0	ATP8B3|ATP8B3	1760703|1760703	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.258000|0.258000	0.18387|0.18387	0.303000|0.303000	0.22785|0.22785	-0.291000|-0.291000	0.09656|0.09656	CGT|GTG		0.632	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		3	10	0	0	0	0.004672	0	3	10				
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C	rs587777893		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGAAGCCACTGTCAGTGGGTA	0.478																																						ENST00000361445.4																			3	Substitution - Missense(3)	p.T1977R(2)|p.T1977K(1)	kidney(2)|prostate(1)	breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5929-5931)aCa>aGa		mechanistic target of rapamycin (serine/threonine kinase)							117.0	121.0	120.0					1																	11188164		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11188164G>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5930C>G	1.37:g.11188164G>C	ENSP00000354558:p.Thr1977Arg		Somatic				MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	p.T1977R	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	P42345	MTOR_HUMAN			43	6006	-			1977			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5930C>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659586	0.88154	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.92373	0.5907	10	0.87932	D	0	-18.9382	20.063	0.97692	0.0:0.0:1.0:0.0	.	1977	P42345	MTOR_HUMAN	R	1977;182	ENSP00000354558:T1977R;ENSP00000366034:T182R	ENSP00000354558:T1977R	T	-	2	0	MTOR	11110751	1.000000	0.71417	0.968000	0.41197	0.902000	0.53008	9.188000	0.94921	2.735000	0.93741	0.655000	0.94253	ACA		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		40	141	0	0	0	0.014410	0	40	141				
ZC3H12D	340152	broad.mit.edu	37	6	149773757	149773757	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:149773757G>T	ENST00000409806.3	-	5	1100	c.782C>A	c.(781-783)cCt>cAt	p.P261H	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P261H|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.P261H|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P261H			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	261					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CCCACCATAAGGACAATGCTG	0.632																																						ENST00000389942.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(781-783)cCt>cAt		zinc finger CCCH-type containing 12D							32.0	37.0	35.0					6																	149773757		1914	4118	6032	SO:0001583	missense	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149773757G>T			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.782C>A	6.37:g.149773757G>T	ENSP00000386616:p.Pro261His		Somatic				ZC3H12D_ENST00000409806.3_Missense_Mutation_p.P261H|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P261H|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P261H	p.P261H			WXS	Illumina GAIIx	Phase_I	A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	5	1029	-		Ovarian(120;0.0907)	261					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37	c.782C>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.112103	0.77210	.	.	ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614	T;T;T;T	0.46451	0.87;1.09;0.87;1.15	4.6	4.6	0.57074	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.63843	1.955	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61520	-0.7046	10	0.87932	D	0	-22.1976	17.6256	0.88093	0.0:0.0:1.0:0.0	.	261;261	A2A288;B7WNU7	ZC12D_HUMAN;.	H	261	ENSP00000374592:P261H;ENSP00000408686:P261H;ENSP00000386616:P261H;ENSP00000440813:P261H	ENSP00000374592:P261H	P	-	2	0	ZC3H12D	149815450	1.000000	0.71417	0.997000	0.53966	0.573000	0.36030	9.094000	0.94168	2.395000	0.81488	0.561000	0.74099	CCT		0.632	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		7	9	1	0	8.12818e-05	0.001984	9.48288e-05	7	9				
EPS15L1	58513	broad.mit.edu	37	19	16528867	16528867	+	Silent	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:16528867G>A	ENST00000248070.6	-	11	1138	c.999C>T	c.(997-999)ttC>ttT	p.F333F	EPS15L1_ENST00000597937.1_Silent_p.F333F|EPS15L1_ENST00000594975.1_Silent_p.F333F|EPS15L1_ENST00000602009.1_Silent_p.F179F|EPS15L1_ENST00000535753.2_Silent_p.F333F|EPS15L1_ENST00000455140.2_Silent_p.F333F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	333	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TAGCTAACGCGAATTGGTCTT	0.557											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(535-537)ttC>ttT		epidermal growth factor receptor pathway substrate 15-like 1							227.0	164.0	185.0					19																	16528867		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528867G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.999C>T	19.37:g.16528867G>A			Somatic	OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_ENST00000597937.1_Silent_p.F333F|EPS15L1_ENST00000535753.2_Silent_p.F333F|EPS15L1_ENST00000455140.2_Silent_p.F333F|EPS15L1_ENST00000248070.6_Silent_p.F333F|EPS15L1_ENST00000594975.1_Silent_p.F333F	p.F179F			WXS	Illumina GAIIx	Phase_I	Q9UBC2	EP15R_HUMAN			5	1432	-			333			EF-hand.|EH 2.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.537C>T	CCDS32944.1																																																																																				0.557	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		19	53	0	0	0	0.007413	0	19	53				
QRSL1	55278	broad.mit.edu	37	6	107102774	107102774	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:107102774C>T	ENST00000369046.4	+	8	1123	c.1019C>T	c.(1018-1020)gCa>gTa	p.A340V		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TCGAATATGGCAAGATTTGAT	0.378																																					NSCLC(192;2127 2142 11668 26277 49545)	ENST00000369046.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(1018-1020)gCa>gTa		glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1							161.0	153.0	156.0					6																	107102774		2203	4300	6503	SO:0001583	missense	55278				translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor	g.chr6:107102774C>T	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1019C>T	6.37:g.107102774C>T	ENSP00000358042:p.Ala340Val		Somatic					p.A340V	NM_018292.4	NP_060762.3	WXS	Illumina GAIIx	Phase_I	Q9H0R6	QRSL1_HUMAN	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)	8	1123	+	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	340						Missense_Mutation	SNP	ENST00000369046.4	37	c.1019C>T	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500978	0.96371	.	.	ENSG00000130348	ENST00000369046	T	0.56444	0.46	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89390	0.3688	10	0.87932	D	0	-22.5098	19.4594	0.94910	0.0:1.0:0.0:0.0	.	340	Q9H0R6	GATA_HUMAN	V	340	ENSP00000358042:A340V	ENSP00000358042:A340V	A	+	2	0	QRSL1	107209467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.454000	0.80714	2.605000	0.88082	0.591000	0.81541	GCA		0.378	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		6	188	0	0	0	0.001984	0	6	188				
ZNF536	9745	broad.mit.edu	37	19	30936076	30936076	+	Missense_Mutation	SNP	G	G	T	rs568730030		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:30936076G>T	ENST00000355537.3	+	2	1754	c.1607G>T	c.(1606-1608)gGc>gTc	p.G536V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	536					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGAACATGGCTTCTTGTCT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16852	0.0		0.0	False		,,,				2504	0.001					ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1606-1608)gGc>gTc		zinc finger protein 536							59.0	65.0	63.0					19																	30936076		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936076G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1607G>T	19.37:g.30936076G>T	ENSP00000347730:p.Gly536Val		Somatic					p.G536V	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			2	1754	+	Esophageal squamous(110;0.0834)		536					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1607G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256823	0.22965	.	.	ENSG00000198597	ENST00000355537	T	0.42900	0.96	5.53	5.53	0.82687	.	0.163771	0.56097	D	0.000040	T	0.31575	0.0801	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.35745	0.518;0.518	B;B	0.26693	0.072;0.072	T	0.11084	-1.0602	10	0.12430	T	0.62	-27.221	19.4573	0.94900	0.0:0.0:1.0:0.0	.	536;536	A7E228;O15090	.;ZN536_HUMAN	V	536	ENSP00000347730:G536V	ENSP00000347730:G536V	G	+	2	0	ZNF536	35627916	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.747000	0.68689	2.582000	0.87167	0.655000	0.94253	GGC		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		22	82	1	0	1.36565e-18	0.002780	1.78444e-18	22	82				
KIAA1257	57501	broad.mit.edu	37	3	128694691	128694691	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:128694691T>A	ENST00000265068.5	-	7	1119	c.952A>T	c.(952-954)Atc>Ttc	p.I318F	KIAA1257_ENST00000515659.1_Missense_Mutation_p.I206F|KIAA1257_ENST00000511438.1_Missense_Mutation_p.I318F|KIAA1257_ENST00000510149.1_5'Flank	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	318										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AATTCCTTGATCTCCATCATG	0.338																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(952-954)Atc>Ttc		KIAA1257							111.0	98.0	102.0					3																	128694691		1848	4106	5954	SO:0001583	missense	57501							g.chr3:128694691T>A	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.952A>T	3.37:g.128694691T>A	ENSP00000265068:p.Ile318Phe		Somatic				KIAA1257_ENST00000515659.1_Missense_Mutation_p.I206F|KIAA1257_ENST00000511438.1_Missense_Mutation_p.I318F	p.I318F	NM_020741.2	NP_065792.1	WXS	Illumina GAIIx	Phase_I	Q9ULG3	K1257_HUMAN			7	1119	-			318					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.952A>T	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603400	0.28534	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.38	0.836	0.18891	.	0.577624	0.15676	N	0.250137	T	0.21590	0.0520	N	0.19112	0.55	0.22292	N	0.999227	D;D	0.54047	0.964;0.964	P;P	0.49361	0.608;0.608	T	0.08371	-1.0725	9	0.54805	T	0.06	-9.8261	3.5366	0.07796	0.0:0.1257:0.2306:0.6437	.	318;318	Q9ULG3;D6RH05	K1257_HUMAN;.	F	318;318;206	.	ENSP00000265068:I318F	I	-	1	0	KIAA1257	130177381	0.070000	0.21116	0.559000	0.28332	0.164000	0.22412	0.267000	0.18552	0.174000	0.19809	0.402000	0.26972	ATC		0.338	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		3	31	0	0	0	0.004672	0	3	31				
LRRTM3	347731	broad.mit.edu	37	10	68687088	68687088	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr10:68687088G>C	ENST00000361320.4	+	2	992	c.414G>C	c.(412-414)ttG>ttC	p.L138F	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	138					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TACGGAACTTGGATCTGTCCT	0.418																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(412-414)ttG>ttC		leucine rich repeat transmembrane neuronal 3							122.0	129.0	126.0					10																	68687088		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687088G>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.414G>C	10.37:g.68687088G>C	ENSP00000355187:p.Leu138Phe		Somatic				CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	p.L138F	NM_178011.3	NP_821079.3	WXS	Illumina GAIIx	Phase_I	Q86VH5	LRRT3_HUMAN			2	992	+			138					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.414G>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402199	0.42613	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.21031	2.03	5.43	4.52	0.55395	.	0.000000	0.51477	D	0.000097	T	0.52805	0.1757	M	0.90369	3.11	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62969	-0.6741	10	0.87932	D	0	.	12.9779	0.58547	0.0797:0.0:0.9203:0.0	.	138;138	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	F	138	ENSP00000355187:L138F	ENSP00000355187:L138F	L	+	3	2	LRRTM3	68357094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.074000	0.57577	1.277000	0.44412	0.655000	0.94253	TTG		0.418	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		4	236	0	0	0	0.001168	0	4	236				
LARP6	55323	broad.mit.edu	37	15	71124409	71124409	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:71124409C>A	ENST00000299213.8	-	3	1528	c.1458G>T	c.(1456-1458)agG>agT	p.R486S	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	486					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGGCCCTGCTCCTCTCATGGC	0.502																																						ENST00000299213.8																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1456-1458)agG>agT		La ribonucleoprotein domain family, member 6							95.0	100.0	99.0					15																	71124409		2199	4297	6496	SO:0001583	missense	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71124409C>A	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1458G>T	15.37:g.71124409C>A	ENSP00000299213:p.Arg486Ser		Somatic					p.R486S	NM_018357.2	NP_060827.2	WXS	Illumina GAIIx	Phase_I	Q9BRS8	LARP6_HUMAN			3	1528	-			486					Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	c.1458G>T	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119945	0.20877	.	.	ENSG00000166173	ENST00000299213	T	0.52754	0.65	5.17	0.297	0.15762	.	0.104149	0.64402	D	0.000005	T	0.32010	0.0815	L	0.29908	0.895	0.29877	N	0.826366	B	0.26081	0.141	B	0.20184	0.028	T	0.25328	-1.0135	10	0.87932	D	0	-27.3334	10.1078	0.42544	0.0:0.5325:0.0:0.4675	.	486	Q9BRS8	LARP6_HUMAN	S	486	ENSP00000299213:R486S	ENSP00000299213:R486S	R	-	3	2	LARP6	68911463	0.990000	0.36364	0.386000	0.26170	0.597000	0.36814	0.511000	0.22739	-0.072000	0.12864	-1.644000	0.00765	AGG		0.502	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		42	153	1	0	1.23713e-20	0.014410	1.6608e-20	42	153				
SLC34A2	10568	broad.mit.edu	37	4	25664146	25664146	+	Silent	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:25664146A>G	ENST00000382051.3	+	2	74	c.24A>G	c.(22-24)ggA>ggG	p.G8G	SLC34A2_ENST00000503434.1_Silent_p.G8G|SLC34A2_ENST00000504570.1_Silent_p.G8G	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	8					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTGAATTGGGAGATGCCCAGC	0.532			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(22-24)ggA>ggG		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							49.0	49.0	49.0					4																	25664146		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25664146A>G	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.24A>G	4.37:g.25664146A>G			Somatic				SLC34A2_ENST00000504570.1_Silent_p.G8G|SLC34A2_ENST00000503434.1_Silent_p.G8G	p.G8G	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	WXS	Illumina GAIIx	Phase_I	O95436	NPT2B_HUMAN			2	74	+		Breast(46;0.0503)	8					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.24A>G	CCDS3435.1																																																																																				0.532	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		18	55	0	0	0	0.007413	0	18	55				
AHNAK2	113146	broad.mit.edu	37	14	105413493	105413493	+	Silent	SNP	C	C	T	rs529530064		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr14:105413493C>T	ENST00000333244.5	-	7	8414	c.8295G>A	c.(8293-8295)gcG>gcA	p.A2765A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2765						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCACTTCCGCCTTGGGGC	0.612													.|||	1	0.000199681	0.0	0.0	5008	,	,		17777	0.0		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8293-8295)gcG>gcA		AHNAK nucleoprotein 2							120.0	134.0	129.0					14																	105413493		1860	4082	5942	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413493C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8295G>A	14.37:g.105413493C>T			Somatic				AHNAK2_ENST00000557457.1_Intron	p.A2765A	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8414	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2765					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8295G>A	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		68	159	0	0	0	0.014410	0	68	159				
MAPKBP1	23005	broad.mit.edu	37	15	42113793	42113793	+	Silent	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:42113793C>A	ENST00000456763.2	+	25	2944	c.2748C>A	c.(2746-2748)ccC>ccA	p.P916P	MAPKBP1_ENST00000457542.2_Silent_p.P910P|MAPKBP1_ENST00000514566.1_Silent_p.P910P|MAPKBP1_ENST00000260357.7_Silent_p.P749P|MAPKBP1_ENST00000221214.6_Silent_p.P793P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	916										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATGAAAAGCCCCCTCGGCCTC	0.537																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2728-2730)ccC>ccA		mitogen-activated protein kinase binding protein 1							134.0	122.0	126.0					15																	42113793		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42113793C>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2748C>A	15.37:g.42113793C>A			Somatic				MAPKBP1_ENST00000514566.1_Silent_p.P910P|MAPKBP1_ENST00000456763.2_Silent_p.P916P|MAPKBP1_ENST00000260357.7_Silent_p.P749P|MAPKBP1_ENST00000221214.6_Silent_p.P793P	p.P910P	NM_014994.2	NP_055809.2	WXS	Illumina GAIIx	Phase_I	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	24	3016	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	916					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.2730C>A	CCDS45239.1																																																																																				0.537	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		7	114	1	0	0.00448238	0.004482	0.00510783	7	114				
CEACAM5	1048	broad.mit.edu	37	19	42221598	42221598	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:42221598A>C	ENST00000221992.6	+	5	1297	c.1183A>C	c.(1183-1185)Atc>Ctc	p.I395L	CEACAM5_ENST00000405816.1_Missense_Mutation_p.I395L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I394L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	395	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGAGTGTGGAATCCAGAACAA	0.522																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1183-1185)Atc>Ctc		carcinoembryonic antigen-related cell adhesion molecule 5							214.0	199.0	204.0					19																	42221598		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42221598A>C	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1183A>C	19.37:g.42221598A>C	ENSP00000221992:p.Ile395Leu		Somatic				CEACAM5_ENST00000398599.4_Missense_Mutation_p.I394L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I395L	p.I395L	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	5	1297	+			395			Ig-like 4.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1183A>C	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.97|10.97	1.502456|1.502456	0.26949|0.26949	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816|ENST00000398599	T;T|.	0.67698|.	-0.28;-0.28|.	2.45|2.45	-1.17|-1.17	0.09648|0.09648	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.52917|0.52917	0.1764|0.1764	M|M	0.80422|0.80422	2.495|2.495	0.09310|0.09310	N|N	1|1	P;B|.	0.36768|.	0.569;0.002|.	B;B|.	0.42030|.	0.373;0.023|.	T|T	0.50833|0.50833	-0.8781|-0.8781	9|5	0.56958|.	D|.	0.05|.	.|.	5.7696|5.7696	0.18245|0.18245	0.4467:0.0:0.5533:0.0|0.4467:0.0:0.5533:0.0	.|.	395;395|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	L|T	395|390	ENSP00000221992:I395L;ENSP00000385072:I395L|.	ENSP00000221992:I395L|.	I|N	+|+	1|2	0|0	CEACAM5|CEACAM5	46913438|46913438	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.088000|-0.088000	0.11198|0.11198	-0.202000|-0.202000	0.10268|0.10268	0.473000|0.473000	0.43528|0.43528	ATC|AAT		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		47	144	0	0	0	0.014410	0	47	144				
ZNHIT6	54680	broad.mit.edu	37	1	86146557	86146557	+	Silent	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:86146557G>C	ENST00000370574.3	-	6	1183	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	ZNHIT6_ENST00000431532.2_Silent_p.L311L			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	350					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GAGGAAACTGGAGCTTCACAT	0.318																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(931-933)ctC>ctG		zinc finger, HIT-type containing 6							87.0	86.0	86.0					1																	86146557		2203	4298	6501	SO:0001819	synonymous_variant	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86146557G>C	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1050C>G	1.37:g.86146557G>C			Somatic				ZNHIT6_ENST00000370574.3_Silent_p.L350L	p.L311L	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	WXS	Illumina GAIIx	Phase_I	Q9NWK9	BCD1_HUMAN			7	1081	-			350					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Silent	SNP	ENST00000370574.3	37	c.933C>G	CCDS707.1																																																																																				0.318	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		18	52	0	0	0	0.014323	0	18	52				
INTS12	57117	broad.mit.edu	37	4	106603970	106603970	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:106603970A>C	ENST00000451321.2	-	7	1788	c.1309T>G	c.(1309-1311)Tca>Gca	p.S437A	INTS12_ENST00000340139.5_Missense_Mutation_p.S437A|INTS12_ENST00000394735.1_Missense_Mutation_p.S437A	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	437	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GATTCTTGTGAAGTTGGGCCT	0.438																																						ENST00000451321.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(1309-1311)Tca>Gca		integrator complex subunit 12							218.0	215.0	216.0					4																	106603970		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106603970A>C		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.1309T>G	4.37:g.106603970A>C	ENSP00000415433:p.Ser437Ala		Somatic				INTS12_ENST00000394735.1_Missense_Mutation_p.S437A|INTS12_ENST00000340139.5_Missense_Mutation_p.S437A	p.S437A	NM_001142471.1	NP_001135943.1	WXS	Illumina GAIIx	Phase_I	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	7	1788	-			437			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.1309T>G	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134695	0.77662	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.55760	0.5;0.5;0.5	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	L	0.34521	1.04	0.58432	D	0.999994	D	0.64830	0.994	D	0.70716	0.97	T	0.65788	-0.6083	10	0.66056	D	0.02	-15.3553	15.2762	0.73742	1.0:0.0:0.0:0.0	.	437	Q96CB8	INT12_HUMAN	A	437	ENSP00000378221:S437A;ENSP00000340737:S437A;ENSP00000415433:S437A	ENSP00000340737:S437A	S	-	1	0	INTS12	106823419	1.000000	0.71417	0.528000	0.27938	0.614000	0.37383	7.256000	0.78350	2.068000	0.61886	0.460000	0.39030	TCA		0.438	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		57	157	0	0	0	0.014410	0	57	157				
SV2A	9900	broad.mit.edu	37	1	149877444	149877444	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:149877444G>A	ENST00000369146.3	-	12	2523	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L	SV2A_ENST00000369145.1_Missense_Mutation_p.P678L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	678					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTTGTCTGAGGGGTAGAGTTC	0.567																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(2032-2034)cCc>cTc		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						205.0	191.0	196.0					1																	149877444		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149877444G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.2033C>T	1.37:g.149877444G>A	ENSP00000358142:p.Pro678Leu		Somatic				SV2A_ENST00000369145.1_Missense_Mutation_p.P678L	p.P678L	NM_014849.3	NP_055664.3	WXS	Illumina GAIIx	Phase_I	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		12	2523	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		678					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.2033C>T	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514700	0.85389	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	D;D	0.85702	-2.02;-2.02	3.89	3.89	0.44902	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.955102	0.08726	N	0.902715	D	0.92681	0.7674	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90866	0.4742	10	0.87932	D	0	-13.1257	13.3942	0.60840	0.0:0.0:1.0:0.0	.	130;678	B4E000;Q7L0J3	.;SV2A_HUMAN	L	678	ENSP00000358142:P678L;ENSP00000358141:P678L	ENSP00000358141:P678L	P	-	2	0	SV2A	148144068	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.354000	0.97083	2.001000	0.58596	0.297000	0.19635	CCC		0.567	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			67	184	0	0	0	0.014410	0	67	184				
LY6E	4061	broad.mit.edu	37	8	144102375	144102375	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr8:144102375G>T	ENST00000520466.1	+	3	422	c.19G>T	c.(19-21)Gtg>Ttg	p.V7L	LY6E_ENST00000523847.1_Missense_Mutation_p.V7L|LY6E_ENST00000521182.1_Missense_Mutation_p.V7L|LY6E_ENST00000521699.1_Missense_Mutation_p.V7L|LY6E_ENST00000522528.1_Missense_Mutation_p.V7L|LY6E_ENST00000429120.2_Missense_Mutation_p.V7L|LY6E_ENST00000522971.1_Missense_Mutation_p.V7L|LY6E_ENST00000517503.1_Missense_Mutation_p.S101I|LY6E_ENST00000519546.1_Missense_Mutation_p.V7L|LY6E_ENST00000520531.1_Missense_Mutation_p.V7L|LY6E_ENST00000292494.6_Missense_Mutation_p.V7L|RP11-273G15.2_ENST00000502167.2_lincRNA|LY6E_ENST00000521003.1_Missense_Mutation_p.V7L|LY6E_ENST00000519611.1_Missense_Mutation_p.V7L|LY6E_ENST00000522024.1_Missense_Mutation_p.V7L			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	7					adrenal gland development (GO:0030325)|cell surface receptor signaling pathway (GO:0007166)|epinephrine secretion (GO:0048242)|in utero embryonic development (GO:0001701)|norepinephrine metabolic process (GO:0042415)|organ growth (GO:0035265)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTTCTTGCCAGTGCTGCTGGC	0.612																																						ENST00000520466.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7						c.(19-21)Gtg>Ttg		lymphocyte antigen 6 complex, locus E							118.0	94.0	102.0					8																	144102375		2203	4300	6503	SO:0001583	missense	4061				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane		g.chr8:144102375G>T	U42376	CCDS6394.1	8q24	2008-08-07				ENSG00000160932			6727	protein-coding gene	gene with protein product	"""retinoic acid induced gene E"""	601384				8757598, 8650192	Standard	NM_001127213		Approved	TSA-1, RIG-E, SCA-2	uc003yxm.2	Q16553		ENST00000520466.1:c.19G>T	8.37:g.144102375G>T	ENSP00000428572:p.Val7Leu		Somatic				LY6E_ENST00000522024.1_Missense_Mutation_p.V7L|LY6E_ENST00000519546.1_Missense_Mutation_p.V7L|LY6E_ENST00000521699.1_Missense_Mutation_p.V7L|LY6E_ENST00000520531.1_Missense_Mutation_p.V7L|LY6E_ENST00000521182.1_Missense_Mutation_p.V7L|LY6E_ENST00000292494.6_Missense_Mutation_p.V7L|LY6E_ENST00000523847.1_Missense_Mutation_p.V7L|LY6E_ENST00000429120.2_Missense_Mutation_p.V7L|LY6E_ENST00000521003.1_Missense_Mutation_p.V7L|LY6E_ENST00000519611.1_Missense_Mutation_p.V7L|LY6E_ENST00000517503.1_Missense_Mutation_p.S101I|LY6E_ENST00000522528.1_Missense_Mutation_p.V7L|LY6E_ENST00000522971.1_Missense_Mutation_p.V7L	p.V7L			WXS	Illumina GAIIx	Phase_I	Q16553	LY6E_HUMAN			3	422	+	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		7					B2R4X5|D3DWJ2|Q0VDE5	Missense_Mutation	SNP	ENST00000520466.1	37	c.19G>T	CCDS6394.1	.	.	.	.	.	.	.	.	.	.	g	5.302	0.241170	0.10077	.	.	ENSG00000160932	ENST00000517503;ENST00000292494;ENST00000429120;ENST00000521699;ENST00000520531;ENST00000520466;ENST00000521003;ENST00000522528;ENST00000522971;ENST00000519611;ENST00000521182;ENST00000519546;ENST00000523847;ENST00000522024	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	3.92	-1.33	0.09172	.	0.538685	0.15089	N	0.281179	T	0.61286	0.2335	N	0.14661	0.345	0.09310	N	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.43410	-0.9393	10	0.23891	T	0.37	-4.5395	3.4199	0.07389	0.4304:0.0:0.3891:0.1804	.	7	Q16553	LY6E_HUMAN	L	7	ENSP00000292494:V7L;ENSP00000414307:V7L;ENSP00000427915:V7L;ENSP00000428572:V7L;ENSP00000428169:V7L;ENSP00000428159:V7L;ENSP00000428442:V7L	ENSP00000292494:V7L	V	+	1	0	LY6E	144173750	0.005000	0.15991	0.065000	0.19835	0.137000	0.21094	-0.322000	0.08007	-0.290000	0.09025	-0.150000	0.13652	GTG		0.612	LY6E-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380125.1	NM_001127213		12	51	1	0	4.14922e-12	0.004007	5.14713e-12	12	51				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A			Somatic				EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	27	0	0	0	0.004672	0	3	27				
CYP4F11	57834	broad.mit.edu	37	19	16032977	16032977	+	Splice_Site	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:16032977C>A	ENST00000402119.4	-	8	1412		c.e8-1		CYP4F11_ENST00000591841.1_Splice_Site|CYP4F11_ENST00000326742.8_Splice_Site|CYP4F11_ENST00000248041.8_Splice_Site	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGTCATGGCCTGAGGGGCAG	0.567																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.e8-1		cytochrome P450, family 4, subfamily F, polypeptide 11							80.0	72.0	75.0					19																	16032977		2203	4300	6503	SO:0001630	splice_region_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16032977C>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.986-1G>T	19.37:g.16032977C>A			Somatic				CYP4F11_ENST00000402119.3_Splice_Site|CYP4F11_ENST00000248041.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9HBI6	CP4FB_HUMAN			8	987	-									Splice_Site	SNP	ENST00000402119.4	37		CCDS12337.1	.	.	.	.	.	.	.	.	.	.	.	16.29	3.080949	0.55753	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2762	0.49168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP4F11	15893977	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	6.559000	0.73946	1.531000	0.49152	0.484000	0.47621	.		0.567	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	Intron	18	42	1	0	1.55795e-14	0.012319	2.00893e-14	18	42				
DPYD	1806	broad.mit.edu	37	1	98348868	98348868	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:98348868C>G	ENST00000370192.3	-	2	202	c.102G>C	c.(100-102)aaG>aaC	p.K34N	DPYD_ENST00000306031.5_Missense_Mutation_p.K34N|DPYD_ENST00000423006.2_Intron	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	34					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGTCTAATTTCTTGGCCGAAG	0.368																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(100-102)aaG>aaC		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						134.0	127.0	129.0					1																	98348868		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98348868C>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.102G>C	1.37:g.98348868C>G	ENSP00000359211:p.Lys34Asn		Somatic				DPYD_ENST00000306031.5_Missense_Mutation_p.K34N|DPYD_ENST00000423006.2_Intron	p.K34N	NM_000110.3	NP_000101.2	WXS	Illumina GAIIx	Phase_I	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	2	202	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	34					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.102G>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500081	0.64298	.	.	ENSG00000188641	ENST00000370192;ENST00000306031	D;D	0.82526	-1.62;-1.62	5.84	3.92	0.45320	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.062767	0.64402	D	0.000012	T	0.76256	0.3962	L	0.51422	1.61	0.80722	D	1	P;P	0.51351	0.944;0.747	P;B	0.53062	0.717;0.33	T	0.77046	-0.2733	10	0.54805	T	0.06	-16.4825	7.1026	0.25346	0.0:0.7062:0.0:0.2938	.	34;34	E9PFN1;Q12882	.;DPYD_HUMAN	N	34	ENSP00000359211:K34N;ENSP00000307107:K34N	ENSP00000307107:K34N	K	-	3	2	DPYD	98121456	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.906000	0.28517	0.740000	0.32651	0.557000	0.71058	AAG		0.368	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		21	73	0	0	0	0.004656	0	21	73				
TRIM24	8805	broad.mit.edu	37	7	138268636	138268636	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr7:138268636G>C	ENST00000343526.4	+	18	3050	c.2835G>C	c.(2833-2835)ttG>ttC	p.L945F	TRIM24_ENST00000415680.2_Missense_Mutation_p.L911F			O15164	TIF1A_HUMAN	tripartite motif containing 24	945	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAATGGATTTGTCAACCATCA	0.284																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2833-2835)ttG>ttC		tripartite motif containing 24							51.0	57.0	55.0					7																	138268636		2203	4299	6502	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138268636G>C	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2835G>C	7.37:g.138268636G>C	ENSP00000340507:p.Leu945Phe		Somatic				TRIM24_ENST00000415680.2_Missense_Mutation_p.L911F	p.L945F			WXS	Illumina GAIIx	Phase_I	O15164	TIF1A_HUMAN			18	3050	+			945			Bromo.		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2835G>C	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768447	0.69878	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.36340	1.26;1.26	5.95	4.14	0.48551	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.41415	1.275	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.988	T	0.39313	-0.9620	10	0.41790	T	0.15	-11.3208	11.3559	0.49615	0.1995:0.0:0.8005:0.0	.	945;911	O15164;O15164-2	TIF1A_HUMAN;.	F	945;856;911	ENSP00000340507:L945F;ENSP00000390829:L911F	ENSP00000340507:L945F	L	+	3	2	TRIM24	137919176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.289000	0.33307	1.526000	0.49068	0.563000	0.77884	TTG		0.284	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		22	59	0	0	0	0.002780	0	22	59				
IZUMO2	126123	broad.mit.edu	37	19	50657913	50657913	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:50657913C>G	ENST00000293405.3	-	6	567	c.567G>C	c.(565-567)ttG>ttC	p.L189F		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	189						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TGAGGATGCCCAACAGCGCCT	0.617																																						ENST00000293405.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(565-567)ttG>ttC		IZUMO family member 2							131.0	153.0	146.0					19																	50657913		2111	4224	6335	SO:0001583	missense	126123					integral to membrane		g.chr19:50657913C>G	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.567G>C	19.37:g.50657913C>G	ENSP00000293405:p.Leu189Phe		Somatic					p.L189F	NM_152358.2	NP_689571.2	WXS	Illumina GAIIx	Phase_I	Q6UXV1	IZUM2_HUMAN			6	567	-			189					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.567G>C	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.576|3.576	-0.086640|-0.086640	0.07097|0.07097	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.44881|.	0.91|.	3.43|3.43	-4.9|-4.9	0.03094|0.03094	.|.	.|.	.|.	.|.	.|.	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.35699|0.35699	-0.9778|-0.9778	9|6	0.30854|0.87932	T|D	0.27|0	.|.	6.5454|6.5454	0.22402|0.22402	0.4192:0.3258:0.255:0.0|0.4192:0.3258:0.255:0.0	.|.	189|.	Q6UXV1|.	IZUM2_HUMAN|.	F|S	189|154	ENSP00000293405:L189F|.	ENSP00000293405:L189F|ENSP00000366199:W154S	L|W	-|-	3|2	2|0	IZUMO2|IZUMO2	55349725|55349725	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.064000|0.064000	0.16182|0.16182	-1.261000|-1.261000	0.02855|0.02855	-0.708000|-0.708000	0.05015|0.05015	0.305000|0.305000	0.20034|0.20034	TTG|TGG		0.617	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		24	73	0	0	0	0.006320	0	24	73				
PITX2	5308	broad.mit.edu	37	4	111539370	111539370	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr4:111539370T>C	ENST00000354925.2	-	7	2570	c.865A>G	c.(865-867)Aag>Gag	p.K289E	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Missense_Mutation_p.K296E|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000394598.2_Missense_Mutation_p.K289E|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.K243E	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	289					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAGTGCTGCTTTGCTTTCAGT	0.637																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(865-867)Aag>Gag		paired-like homeodomain 2							63.0	57.0	59.0					4																	111539370		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539370T>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.865A>G	4.37:g.111539370T>C	ENSP00000347004:p.Lys289Glu		Somatic				PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.K243E|PITX2_ENST00000306732.3_Missense_Mutation_p.K296E|PITX2_ENST00000394598.2_Missense_Mutation_p.K289E	p.K289E	NM_001204397.1	NP_001191326.1	WXS	Illumina GAIIx	Phase_I	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2570	-		Hepatocellular(203;0.217)	289					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.865A>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225104	0.79576	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.85	5.68	5.68	0.88126	Paired-like homeodomain protein, OAR (2);	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	0.999;0.974;0.999;1.0	D;D;D;D	0.91635	0.999;0.953;0.999;0.999	D	0.99855	1.1076	10	0.87932	D	0	.	15.9332	0.79683	0.0:0.0:0.0:1.0	.	243;243;289;296	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	E	296;289;243;289;289	ENSP00000304169:K296E;ENSP00000378097:K289E;ENSP00000347192:K243E;ENSP00000347004:K289E;ENSP00000421454:K289E	ENSP00000304169:K296E	K	-	1	0	PITX2	111758819	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	8.040000	0.89188	2.172000	0.68678	0.533000	0.62120	AAG		0.637	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			15	32	0	0	0	0.006122	0	15	32				
HYDIN	54768	broad.mit.edu	37	16	71212850	71212850	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr16:71212850A>G	ENST00000393567.2	-	4	512	c.362T>C	c.(361-363)aTt>aCt	p.I121T	HYDIN_ENST00000393550.2_Missense_Mutation_p.I121T|HYDIN_ENST00000538248.1_Missense_Mutation_p.I148T|HYDIN_ENST00000541601.1_Missense_Mutation_p.I138T|HYDIN_ENST00000321489.5_Missense_Mutation_p.I121T|HYDIN_ENST00000448691.1_Missense_Mutation_p.I121T|HYDIN_ENST00000448089.2_Missense_Mutation_p.I121T|HYDIN_ENST00000288168.10_Missense_Mutation_p.I138T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	121					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTCCTCAAAATCAGTGGAAC	0.398																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(361-363)aTt>aCt		HYDIN, axonemal central pair apparatus protein							126.0	129.0	128.0					16																	71212850		2198	4300	6498	SO:0001583	missense	54768							g.chr16:71212850A>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.362T>C	16.37:g.71212850A>G	ENSP00000377197:p.Ile121Thr		Somatic				HYDIN_ENST00000448089.2_Missense_Mutation_p.I121T|HYDIN_ENST00000541601.1_Missense_Mutation_p.I138T|HYDIN_ENST00000448691.1_Missense_Mutation_p.I121T|HYDIN_ENST00000393550.2_Missense_Mutation_p.I121T|HYDIN_ENST00000538248.1_Missense_Mutation_p.I148T|HYDIN_ENST00000288168.10_Missense_Mutation_p.I138T|HYDIN_ENST00000321489.5_Missense_Mutation_p.I121T	p.I121T	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			4	512	-		Ovarian(137;0.0654)	121					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.362T>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	3.662	-0.069283	0.07228	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.12465	5.73;3.92;3.93;3.93;3.91;3.93;3.57;2.68	5.6	4.51	0.55191	.	0.322503	0.15861	U	0.241033	T	0.07908	0.0198	N	0.16903	0.455	0.26187	N	0.979632	B;B;B;B;B	0.25169	0.0;0.0;0.0;0.0;0.119	B;B;B;B;B	0.18561	0.001;0.001;0.001;0.001;0.022	T	0.35895	-0.9770	10	0.12766	T	0.61	.	10.2874	0.43575	0.8618:0.0:0.1382:0.0	.	148;138;138;121;121	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	121;121;121;121;121;148;138;138;121	ENSP00000377197:I121T;ENSP00000398544:I121T;ENSP00000394826:I121T;ENSP00000314736:I121T;ENSP00000444970:I148T;ENSP00000437341:I138T;ENSP00000288168:I138T;ENSP00000377181:I121T	ENSP00000288168:I138T	I	-	2	0	HYDIN	69770351	0.977000	0.34250	0.997000	0.53966	0.845000	0.48019	1.735000	0.38176	0.944000	0.37579	-0.609000	0.04063	ATT		0.398	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			56	127	0	0	0	0.014410	0	56	127				
LRRC19	64922	broad.mit.edu	37	9	26997769	26997769	+	Silent	SNP	T	T	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:26997769T>G	ENST00000380055.5	-	3	662	c.552A>C	c.(550-552)ctA>ctC	p.L184L	IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|LRRC19_ENST00000482770.1_5'Flank|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	184	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GCAAATTAAATAGACTGCAAG	0.343																																						ENST00000380055.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)	6						c.(550-552)ctA>ctC		leucine rich repeat containing 19							72.0	73.0	72.0					9																	26997769		2202	4300	6502	SO:0001819	synonymous_variant	64922					integral to membrane		g.chr9:26997769T>G	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.552A>C	9.37:g.26997769T>G			Somatic				IFT74_ENST00000429045.2_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron	p.L184L	NM_022901.2	NP_075052.1	WXS	Illumina GAIIx	Phase_I	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	3	662	-		all_neural(11;1.81e-09)	184			LRRCT.		A0AV00|B9EG91	Silent	SNP	ENST00000380055.5	37	c.552A>C	CCDS6518.1																																																																																				0.343	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		21	69	0	0	0	0.008871	0	21	69				
MORF4L1	10933	broad.mit.edu	37	15	79187218	79187218	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr15:79187218T>G	ENST00000331268.5	+	12	1180	c.976T>G	c.(976-978)Tta>Gta	p.L326V	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558746.1_Missense_Mutation_p.L260V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.L199V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.L199V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.L312V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.L287V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	326	Interaction with RB1-2.|MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CCTTGCTTTATTACTCAATTA	0.368																																						ENST00000331268.5																			0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(976-978)Tta>Gta		mortality factor 4 like 1							133.0	118.0	123.0					15																	79187218		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79187218T>G	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.976T>G	15.37:g.79187218T>G	ENSP00000331310:p.Leu326Val		Somatic				MORF4L1_ENST00000426013.2_Missense_Mutation_p.L287V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.L312V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.L199V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.L199V|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558746.1_Missense_Mutation_p.L260V	p.L326V	NM_206839.2	NP_996670.1	WXS	Illumina GAIIx	Phase_I	Q9UBU8	MO4L1_HUMAN			12	1180	+			326			Interaction with RB1-2.|Sufficient for interaction with PHF12.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.976T>G	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400205	0.62177	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.17528	2.27;2.27;2.27	4.99	3.86	0.44501	.	0.000000	0.64402	D	0.000003	T	0.30293	0.0760	M	0.66939	2.045	0.58432	D	0.99999	D;P	0.58620	0.983;0.939	P;P	0.61874	0.826;0.895	T	0.03193	-1.1062	10	0.46703	T	0.11	-9.8484	5.1502	0.15005	0.0:0.2508:0.0:0.7492	.	287;326	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	V	312;287;326	ENSP00000368850:L312V;ENSP00000408880:L287V;ENSP00000331310:L326V	ENSP00000331310:L326V	L	+	1	2	MORF4L1	76974273	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.716000	0.47219	2.009000	0.58944	0.533000	0.62120	TTA		0.368	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		20	75	0	0	0	0.012319	0	20	75				
RAB4A	5867	broad.mit.edu	37	1	229434801	229434801	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:229434801C>G	ENST00000366690.4	+	6	731	c.523C>G	c.(523-525)Ctt>Gtt	p.L175V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	175					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				AAGAAAAATACTTAACAAAAT	0.348																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(523-525)Ctt>Gtt		RAB4A, member RAS oncogene family							100.0	95.0	97.0					1																	229434801		2203	4300	6503	SO:0001583	missense	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229434801C>G	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.523C>G	1.37:g.229434801C>G	ENSP00000355651:p.Leu175Val		Somatic				RAB4A_ENST00000473894.1_3'UTR	p.L175V	NM_004578.2	NP_004569.2	WXS	Illumina GAIIx	Phase_I	P20338	RAB4A_HUMAN			6	731	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	170					Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	c.523C>G	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415075	0.62511	.	.	ENSG00000168118	ENST00000366690	T	0.80653	-1.4	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	L	0.48218	1.51	0.80722	D	1	B	0.16802	0.019	B	0.28465	0.09	T	0.75966	-0.3131	10	0.72032	D	0.01	.	19.5035	0.95105	0.0:1.0:0.0:0.0	.	170	P20338	RAB4A_HUMAN	V	175	ENSP00000355651:L175V	ENSP00000355651:L175V	L	+	1	0	RAB4A	227501424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.007000	0.70731	2.674000	0.91012	0.655000	0.94253	CTT		0.348	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		3	79	0	0	0	0.004672	0	3	79				
TET1	80312	broad.mit.edu	37	10	70450720	70450720	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr10:70450720A>G	ENST00000373644.4	+	12	5769	c.5560A>G	c.(5560-5562)Act>Gct	p.T1854A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1854					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTCCCCGAAGACTGCTTCAGC	0.512																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5560-5562)Act>Gct		tet methylcytosine dioxygenase 1							83.0	79.0	80.0					10																	70450720		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70450720A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5560A>G	10.37:g.70450720A>G	ENSP00000362748:p.Thr1854Ala		Somatic					p.T1854A	NM_030625.2	NP_085128.2	WXS	Illumina GAIIx	Phase_I	Q8NFU7	TET1_HUMAN			12	5769	+			1854					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.5560A>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	4.708	0.131658	0.08981	.	.	ENSG00000138336	ENST00000373644	T	0.06142	3.34	5.48	0.382	0.16234	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	17.798000	0.00166	N	0.000003	T	0.05135	0.0137	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.38457	-0.9660	10	0.19590	T	0.45	.	0.3069	0.00282	0.2961:0.2297:0.2566:0.2175	.	1854	Q8NFU7	TET1_HUMAN	A	1854	ENSP00000362748:T1854A	ENSP00000362748:T1854A	T	+	1	0	TET1	70120726	0.000000	0.05858	0.001000	0.08648	0.205000	0.24178	-0.170000	0.09897	0.393000	0.25203	0.533000	0.62120	ACT		0.512	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		28	85	0	0	0	0.006320	0	28	85				
TNRC6A	27327	broad.mit.edu	37	16	24802866	24802866	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr16:24802866C>A	ENST00000395799.3	+	6	3032	c.2903C>A	c.(2902-2904)aCa>aAa	p.T968K	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T968K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	968	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CCTCCTGGTACAGGCTGGCTG	0.527																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2902-2904)aCa>aAa		trinucleotide repeat containing 6A							38.0	42.0	41.0					16																	24802866		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802866C>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2903C>A	16.37:g.24802866C>A	ENSP00000379144:p.Thr968Lys		Somatic				TNRC6A_ENST00000315183.7_Missense_Mutation_p.T968K	p.T968K	NM_014494.2	NP_055309.2	WXS	Illumina GAIIx	Phase_I	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	3032	+			968			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.2903C>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527961	0.64860	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13538	2.58;2.6	5.44	5.44	0.79542	.	0.275081	0.38058	N	0.001834	T	0.15652	0.0377	L	0.46157	1.445	0.80722	D	1	B;B;B	0.33238	0.071;0.403;0.255	B;B;B	0.33690	0.149;0.168;0.038	T	0.02676	-1.1125	10	0.32370	T	0.25	-7.9019	16.7721	0.85541	0.0:1.0:0.0:0.0	.	715;968;968	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	K	968	ENSP00000326900:T968K;ENSP00000379144:T968K	ENSP00000326900:T968K	T	+	2	0	TNRC6A	24710367	0.608000	0.26966	1.000000	0.80357	0.998000	0.95712	4.890000	0.63178	2.700000	0.92200	0.655000	0.94253	ACA		0.527	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		19	59	1	0	3.32936e-07	0.006122	3.93105e-07	19	59				
CYP4F11	57834	broad.mit.edu	37	19	16032978	16032978	+	Splice_Site	SNP	T	T	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr19:16032978T>A	ENST00000402119.4	-	8	1412		c.e8-2		CYP4F11_ENST00000591841.1_Splice_Site|CYP4F11_ENST00000326742.8_Splice_Site|CYP4F11_ENST00000248041.8_Splice_Site	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTCATGGCCTGAGGGGCAGC	0.567																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.e8-2		cytochrome P450, family 4, subfamily F, polypeptide 11							78.0	71.0	74.0					19																	16032978		2203	4300	6503	SO:0001630	splice_region_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16032978T>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.986-2A>T	19.37:g.16032978T>A			Somatic				CYP4F11_ENST00000402119.3_Splice_Site|CYP4F11_ENST00000248041.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9HBI6	CP4FB_HUMAN			8	987	-									Splice_Site	SNP	ENST00000402119.4	37		CCDS12337.1	.	.	.	.	.	.	.	.	.	.	.	16.22	3.062670	0.55432	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9655	0.35874	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP4F11	15893978	1.000000	0.71417	0.988000	0.46212	0.887000	0.51463	6.719000	0.74718	1.254000	0.44035	0.397000	0.26171	.		0.567	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	Intron	18	41	0	0	0	0.010504	0	18	41				
FAM168A	23201	broad.mit.edu	37	11	73120706	73120706	+	Splice_Site	SNP	C	C	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:73120706C>A	ENST00000064778.4	-	7	732	c.448G>T	c.(448-450)Gga>Tga	p.G150*	RP11-809N8.4_ENST00000542598.1_RNA|FAM168A_ENST00000356467.4_Splice_Site_p.G141*|FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000536855.1_RNA			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	150										endometrium(3)|kidney(1)|lung(1)	5						TAGTAGGCTCCCTGGGGGAAA	0.582																																						ENST00000064778.4																			0				endometrium(3)|kidney(1)|lung(1)	5						c.e7-1		family with sequence similarity 168, member A							109.0	120.0	117.0					11																	73120706		2119	4218	6337	SO:0001630	splice_region_variant	23201							g.chr11:73120706C>A	BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"""tongue cancer chemotherapy resistance-associated protein 1"""		"""KIAA0280"""	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.448-1G>T	11.37:g.73120706C>A			Somatic				FAM168A_ENST00000450446.2_Intron|RP11-809N8.4_ENST00000536855.1_RNA|FAM168A_ENST00000356467.4_Splice_Site_p.G141_splice|RP11-809N8.4_ENST00000542598.1_RNA	p.G150_splice			WXS	Illumina GAIIx	Phase_I	Q92567	F168A_HUMAN			7	732	-			150					A2ICY2|A2ID81|Q86UG2	Splice_Site	SNP	ENST00000064778.4	37	c.447_splice		.	.	.	.	.	.	.	.	.	.	C	39	7.301682	0.98196	.	.	ENSG00000054965	ENST00000064778;ENST00000356467	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.5845	0.91183	0.0:1.0:0.0:0.0	.	.	.	.	X	150;141	.	ENSP00000064778:G150X	G	-	1	0	FAM168A	72798354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.648000	0.89879	0.561000	0.74099	GGA		0.582	FAM168A-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000397424.1	NM_015159	Nonsense_Mutation	28	73	1	0	8.88839e-20	0.010818	1.17711e-19	28	73				
LRP2	4036	broad.mit.edu	37	2	169993944	169993944	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr2:169993944G>C	ENST00000263816.3	-	76	13863	c.13578C>G	c.(13576-13578)taC>taG	p.Y4526*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4526					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTCTGGCTGAGTACATTGGGT	0.438																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(13576-13578)taC>taG		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						193.0	181.0	185.0					2																	169993944		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169993944G>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13578C>G	2.37:g.169993944G>C	ENSP00000263816:p.Tyr4526*		Somatic					p.Y4526*	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	76	13863	-			4526					O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.13578C>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	55	23.889499	0.99957	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.44	-4.07	0.03975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.46654	D	0.999143	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8071	0.57619	0.479:0.0:0.521:0.0	.	.	.	.	X	4526	.	ENSP00000263816:Y4526X	Y	-	3	2	LRP2	169702190	0.005000	0.15991	0.004000	0.12327	0.321000	0.28281	0.091000	0.15046	-1.027000	0.03325	-0.499000	0.04595	TAC		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		24	81	0	0	0	0.004656	0	24	81				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T			Somatic				NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			WXS	Illumina GAIIx	Phase_I	Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	29	0	0	0	0.004672	0	3	29				
GPR149	344758	broad.mit.edu	37	3	154147212	154147212	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:154147212T>C	ENST00000389740.2	-	1	292	c.193A>G	c.(193-195)Act>Gct	p.T65A		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	65					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GACACAACAGTTCTGTTCTGC	0.463																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(193-195)Act>Gct		G protein-coupled receptor 149							89.0	90.0	90.0					3																	154147212		2027	4185	6212	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147212T>C	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.193A>G	3.37:g.154147212T>C	ENSP00000374390:p.Thr65Ala		Somatic					p.T65A	NM_001038705.1	NP_001033794.1	WXS	Illumina GAIIx	Phase_I	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	292	-			65						Missense_Mutation	SNP	ENST00000389740.2	37	c.193A>G	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287353	0.59976	.	.	ENSG00000174948	ENST00000389740	T	0.45668	0.89	5.91	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.110762	0.64402	D	0.000008	T	0.50786	0.1636	M	0.63843	1.955	0.29937	N	0.821401	D	0.58970	0.984	P	0.56612	0.802	T	0.56601	-0.7952	10	0.87932	D	0	-7.022	6.1513	0.20313	0.2431:0.0678:0.0:0.689	.	65	Q86SP6	GP149_HUMAN	A	65	ENSP00000374390:T65A	ENSP00000374390:T65A	T	-	1	0	GPR149	155629906	1.000000	0.71417	0.032000	0.17829	0.970000	0.65996	4.415000	0.59809	1.064000	0.40671	0.533000	0.62120	ACT		0.463	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		6	102	0	0	0	0.001168	0	6	102				
PCDHGA2	56113	broad.mit.edu	37	5	140720917	140720917	+	Silent	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr5:140720917G>A	ENST00000394576.2	+	1	2379	c.2379G>A	c.(2377-2379)gcG>gcA	p.A793A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	793					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTATCAGCGCCTCAATCTC	0.453																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2377-2379)gcG>gcA									76.0	82.0	80.0					5																	140720917		2203	4300	6503	SO:0001819	synonymous_variant	56113							g.chr5:140720917G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2379G>A	5.37:g.140720917G>A			Somatic				PCDHGA1_ENST00000517417.1_Intron	p.A793A	NM_018915.2	NP_061738.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2379	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.2379G>A	CCDS47289.1																																																																																				0.453	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		6	108	0	0	0	0.001984	0	6	108				
UBE3B	89910	broad.mit.edu	37	12	109939265	109939265	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr12:109939265G>A	ENST00000342494.3	+	13	1803	c.1208G>A	c.(1207-1209)aGc>aAc	p.S403N	UBE3B_ENST00000434735.2_Missense_Mutation_p.S403N|UBE3B_ENST00000280774.5_Missense_Mutation_p.S403N|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	403					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GACATCCTGAGCAAGAAGCTA	0.567																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1207-1209)aGc>aAc		ubiquitin protein ligase E3B							111.0	102.0	105.0					12																	109939265		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109939265G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1208G>A	12.37:g.109939265G>A	ENSP00000340596:p.Ser403Asn		Somatic				UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.S403N|UBE3B_ENST00000434735.2_Missense_Mutation_p.S403N	p.S403N	NM_130466.3	NP_569733.2	WXS	Illumina GAIIx	Phase_I	Q7Z3V4	UBE3B_HUMAN			13	1803	+			403					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1208G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196416	0.58126	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.43294	1.28;0.95;1.54;1.28	5.55	2.76	0.32466	.	0.272266	0.45867	N	0.000334	T	0.36963	0.0986	L	0.57536	1.79	0.39575	D	0.969337	B	0.18610	0.029	B	0.12837	0.008	T	0.17228	-1.0376	10	0.40728	T	0.16	-1.7474	9.9717	0.41759	0.2233:0.0:0.7767:0.0	.	403	Q7Z3V4	UBE3B_HUMAN	N	403	ENSP00000391529:S403N;ENSP00000280774:S403N;ENSP00000443131:S403N;ENSP00000340596:S403N	ENSP00000280774:S403N	S	+	2	0	UBE3B	108423648	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.340000	0.52143	0.310000	0.22990	-0.137000	0.14449	AGC		0.567	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		31	90	0	0	0	0.009535	0	31	90				
LRCH4	4034	broad.mit.edu	37	7	100175156	100175156	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr7:100175156G>A	ENST00000310300.6	-	10	1194	c.1142C>T	c.(1141-1143)cCt>cTt	p.P381L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	381					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTGCCCCAGGGCTTAATTC	0.672																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1141-1143)cCt>cTt		leucine-rich repeats and calponin homology (CH) domain containing 4							74.0	69.0	71.0					7																	100175156		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100175156G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1142C>T	7.37:g.100175156G>A	ENSP00000309689:p.Pro381Leu		Somatic				LRCH4_ENST00000497245.1_5'UTR	p.P381L	NM_002319.3	NP_002310.2	WXS	Illumina GAIIx	Phase_I	O75427	LRCH4_HUMAN			10	1194	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		381					A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1142C>T	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	G	1.382	-0.583256	0.03827	.	.	ENSG00000077454	ENST00000310300	T	0.30448	1.53	5.43	3.59	0.41128	.	0.838409	0.10726	N	0.641206	T	0.11410	0.0278	N	0.01705	-0.755	0.20074	N	0.999933	B	0.02656	0.0	B	0.01281	0.0	T	0.27123	-1.0083	10	0.20519	T	0.43	0.0213	6.8285	0.23897	0.2084:0.0:0.7916:0.0	.	381	O75427	LRCH4_HUMAN	L	381	ENSP00000309689:P381L	ENSP00000309689:P381L	P	-	2	0	LRCH4	100013092	0.011000	0.17503	0.002000	0.10522	0.074000	0.17049	0.660000	0.25009	1.288000	0.44600	0.536000	0.68110	CCT		0.672	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		25	91	0	0	0	0.004656	0	25	91				
ZCCHC11	23318	broad.mit.edu	37	1	52912272	52912272	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr1:52912272delG	ENST00000371544.3	-	21	3765	c.3503delC	c.(3502-3504)acafs	p.T1168fs	ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.T1168fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1168					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAGTTCTTCTGTTTTATCAAA	0.269																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3502-3504)aafs		zinc finger, CCHC domain containing 11							32.0	35.0	34.0					1																	52912272		2198	4285	6483	SO:0001589	frameshift_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52912272delG	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3503delC	1.37:g.52912272delG	ENSP00000360599:p.Thr1168fs		Somatic				ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.T1168fs	p.T1168fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			21	3765	-			1168					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	ENST00000371544.3	37	c.3503delC	CCDS30716.1																																																																																				0.269	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		15	55						15	55	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52692214	52692214	+	Splice_Site	DEL	C	C	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:52692214delC	ENST00000296302.7	-	5	647		c.e5+1		PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCATCACTTACCACTTTAGAA	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.e5+1		polybromo 1							90.0	90.0	90.0					3																	52692214		2203	4300	6503	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52692214delC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.645+1G>-	3.37:g.52692214delC			Somatic				PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	5	648	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	DEL	ENST00000296302.7	37																																																																																						0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	22	75						22	75	---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167414854	167414854	+	Frame_Shift_Del	DEL	T	T	-	rs370184081		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:167414854delT	ENST00000392750.2	-	5	628	c.211delA	c.(211-213)agcfs	p.S71fs	PDCD10_ENST00000492396.1_Frame_Shift_Del_p.S8fs|PDCD10_ENST00000497056.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000470131.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000487947.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000461494.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000473645.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000471885.1_Frame_Shift_Del_p.S71fs	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	71					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.S71fs*18(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACTTCCACGCTTTTTTTCTCT	0.343																																						ENST00000392750.2																			1	Deletion - Frameshift(1)	p.S71fs*18(1)	lung(1)	central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						c.(211-213)gcfs		programmed cell death 10							108.0	113.0	112.0					3																	167414854		2203	4300	6503	SO:0001589	frameshift_variant	11235				angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167414854delT	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.211delA	3.37:g.167414854delT	ENSP00000376506:p.Ser71fs		Somatic				PDCD10_ENST00000461494.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000487947.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000470131.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000492396.1_Frame_Shift_Del_p.S8fs|PDCD10_ENST00000471885.1_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000473645.2_Frame_Shift_Del_p.S71fs|PDCD10_ENST00000497056.2_Frame_Shift_Del_p.S71fs	p.S71fs	NM_007217.3	NP_009148.2	WXS	Illumina GAIIx	Phase_I	Q9BUL8	PDC10_HUMAN			5	628	-			71					A8K515|D3DNN5|O14811	Frame_Shift_Del	DEL	ENST00000392750.2	37	c.211delA	CCDS3202.1																																																																																				0.343	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		30	90						30	90	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195698244	195698246	+	RNA	DEL	CAA	CAA	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr3:195698244_195698246delCAA	ENST00000427841.1	-	0	1626_1628					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTTCCATCAGCAAATCTCAATTT	0.448																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195698244_195698246delCAA	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698244_195698246delCAA			Somatic						NR_003264.2		WXS	Illumina GAIIx	Phase_I					0	1626_1628	-									RNA	DEL	ENST00000427841.1	37																																																																																						0.448	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	81						7	81	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72960628	72960628	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr6:72960628delA	ENST00000521978.1	+	14	2377	c.2377delA	c.(2377-2379)aaafs	p.K793fs	RIMS1_ENST00000518273.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000520567.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000517827.1_Frame_Shift_Del_p.K252fs|RIMS1_ENST00000264839.7_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000401910.3_Frame_Shift_Del_p.K267fs|RIMS1_ENST00000523963.1_Frame_Shift_Del_p.K267fs|RIMS1_ENST00000348717.5_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000425662.2_Frame_Shift_Del_p.K186fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.K793fs	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	793	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTCAGTGATAAAAGTAAAAG	0.294																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(2377-2379)aafs		regulating synaptic membrane exocytosis 1							47.0	44.0	45.0					6																	72960628		1761	3984	5745	SO:0001589	frameshift_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72960628delA	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2377delA	6.37:g.72960628delA	ENSP00000428417:p.Lys793fs		Somatic				RIMS1_ENST00000348717.5_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000521978.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000518273.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000425662.2_Frame_Shift_Del_p.K186fs|RIMS1_ENST00000517827.1_Frame_Shift_Del_p.K252fs|RIMS1_ENST00000520567.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000523963.1_Frame_Shift_Del_p.K267fs|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.K793fs|RIMS1_ENST00000401910.3_Frame_Shift_Del_p.K267fs	p.K793fs			WXS	Illumina GAIIx	Phase_I	Q86UR5	RIMS1_HUMAN			14	2377	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	793			C2 1.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Del	DEL	ENST00000521978.1	37	c.2377delA	CCDS47449.1																																																																																				0.294	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			2	4						2	4	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210125	28210126	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr8:28210125_28210126delCA	ENST00000344423.5	-	6	1015_1016	c.884_885delTG	c.(883-885)gtgfs	p.V295fs	ZNF395_ENST00000523095.1_Frame_Shift_Del_p.V295fs|ZNF395_ENST00000523202.1_Frame_Shift_Del_p.V295fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V295V(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTTTGATGCCCACAATGGAGCG	0.564																																						ENST00000344423.5																			1	Substitution - coding silent(1)	p.V295V(1)	lung(1)	cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(883-885)gfs		zinc finger protein 395																																				SO:0001589	frameshift_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28210125_28210126delCA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.884_885delTG	8.37:g.28210127_28210128delCA	ENSP00000340494:p.Val295fs		Somatic				ZNF395_ENST00000523202.1_Frame_Shift_Del_p.V295fs|ZNF395_ENST00000523095.1_Frame_Shift_Del_p.V295fs	p.V295fs	NM_018660.2	NP_061130.1	WXS	Illumina GAIIx	Phase_I	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	6	1015_1016	-		Ovarian(32;2.06e-05)	295					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Frame_Shift_Del	DEL	ENST00000344423.5	37	c.884_885delTG	CCDS6067.1																																																																																				0.564	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			13	71						13	71	---	---	---	---
OR1L1	26737	broad.mit.edu	37	9	125423916	125423919	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr9:125423916_125423919delGAGA	ENST00000373686.1	+	1	72_75	c.72_75delGAGA	c.(70-75)aggagafs	p.RR24fs	OR1L1_ENST00000309623.1_5'Flank			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R25I(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGAATAAAAGGAGAAATTTTGGAC	0.294																																						ENST00000373686.1																			1	Substitution - Missense(1)	p.R25I(1)	pancreas(1)	breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(70-75)agfs		olfactory receptor, family 1, subfamily L, member 1																																				SO:0001589	frameshift_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125423916_125423919delGAGA		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.72_75delGAGA	9.37:g.125423916_125423919delGAGA	ENSP00000362790:p.Arg24fs		Somatic					p.RR24fs			WXS	Illumina GAIIx	Phase_I	Q8NH94	OR1L1_HUMAN			1	72_75	+			24					Q5T7Z3|Q6IFN2	Frame_Shift_Del	DEL	ENST00000373686.1	37	c.72_75delGAGA																																																																																					0.294	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				13	66						13	66	---	---	---	---
TRIM6	117854	broad.mit.edu	37	11	5632212	5632216	+	Frame_Shift_Del	DEL	GGGGG	GGGGG	-	rs10769124	byFrequency	TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:5632212_5632216delGGGGG	ENST00000278302.5	+	8	1247_1251	c.1107_1111delGGGGG	c.(1105-1113)ctgggggtafs	p.GV370fs	TRIM6_ENST00000506134.1_Frame_Shift_Del_p.GV195fs|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Frame_Shift_Del_p.GV195fs|TRIM6_ENST00000507320.1_Frame_Shift_Del_p.GV195fs|TRIM6_ENST00000380097.3_Frame_Shift_Del_p.GV398fs|TRIM6_ENST00000380107.1_Frame_Shift_Del_p.GV344fs|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Frame_Shift_Del_p.GV195fs|TRIM6_ENST00000481603.1_3'UTR|TRIM6-TRIM34_ENST00000354852.5_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	370	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTGGATCCTGGGGGTATGCAGCAA	0.488																																						ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(1189-1197)cttafs		tripartite motif containing 6																																				SO:0001589	frameshift_variant	117854							g.chr11:5632212_5632216delGGGGG	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1107_1111delGGGGG	11.37:g.5632212_5632216delGGGGG	ENSP00000278302:p.Gly370fs		Somatic				TRIM6_ENST00000506134.1_Frame_Shift_Del_p.LGV194fs|TRIM6_ENST00000507320.1_Frame_Shift_Del_p.LGV194fs|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Frame_Shift_Del_p.LGV194fs|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000278302.5_Frame_Shift_Del_p.LGV369fs|TRIM6_ENST00000380107.1_Frame_Shift_Del_p.LGV343fs|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000515022.1_Frame_Shift_Del_p.LGV194fs	p.LGV397fs	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1	WXS	Illumina GAIIx	Phase_I				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	8	1433_1437	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Frame_Shift_Del	DEL	ENST00000278302.5	37	c.1191_1195delGGGGG	CCDS31390.1																																																																																				0.488	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		37	104						37	104	---	---	---	---
CSTF3	1479	broad.mit.edu	37	11	33107506	33107506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:33107506delC	ENST00000323959.4	-	19	1964	c.1825delG	c.(1825-1827)gtgfs	p.V609fs	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	609	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ACTGGGAACACTCCACCAGGT	0.423																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1825-1827)tgfs		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							62.0	60.0	61.0					11																	33107506		2202	4298	6500	SO:0001589	frameshift_variant	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33107506delC	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1825delG	11.37:g.33107506delC	ENSP00000315791:p.Val609fs		Somatic				TCP11L1_ENST00000324357.9_Intron	p.V609fs	NM_001326.2	NP_001317.1	WXS	Illumina GAIIx	Phase_I	Q12996	CSTF3_HUMAN			19	1964	-			609			Pro-rich.		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Frame_Shift_Del	DEL	ENST00000323959.4	37	c.1825delG	CCDS7883.1																																																																																				0.423	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		7	23						7	23	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del		Somatic				ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	p.RS1367del	NM_022370.3	NP_071765.2	WXS	Illumina GAIIx	Phase_I	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		4	4						4	4	---	---	---	---
G6PC	2538	broad.mit.edu	37	17	41063346	41063346	+	Frame_Shift_Del	DEL	C	C	-	rs80356486		TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:41063346delC	ENST00000253801.2	+	5	1056	c.977delC	c.(976-978)tccfs	p.S326fs	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	326					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TACGTCTTGTCCTTCTGCAAG	0.582																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(976-978)tcfs		glucose-6-phosphatase, catalytic subunit							144.0	141.0	142.0					17																	41063346		2203	4300	6503	SO:0001589	frameshift_variant	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063346delC	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.977delC	17.37:g.41063346delC	ENSP00000253801:p.Ser326fs		Somatic				G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	p.S326fs	NM_000151.3	NP_000142.2	WXS	Illumina GAIIx	Phase_I	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1056	+		Breast(137;0.000143)	326					A1L4C0|B4E1C3|K7EL82	Frame_Shift_Del	DEL	ENST00000253801.2	37	c.977delC	CCDS11446.1																																																																																				0.582	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		66	172						66	172	---	---	---	---
NBR1	4077	broad.mit.edu	37	17	41341765	41341766	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:41341765_41341766delAT	ENST00000422280.1	+	8	1100_1101	c.641_642delAT	c.(640-642)catfs	p.H214fs	NBR1_ENST00000389312.4_Frame_Shift_Del_p.H214fs|NBR1_ENST00000542611.1_Frame_Shift_Del_p.H193fs|NBR1_ENST00000589872.1_Frame_Shift_Del_p.H214fs|NBR1_ENST00000590996.1_Frame_Shift_Del_p.H214fs|NBR1_ENST00000341165.6_Frame_Shift_Del_p.H214fs	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	214					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TTCAGCTGGCATATTGCTTGCA	0.465																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(640-642)cfs		neighbor of BRCA1 gene 1																																				SO:0001589	frameshift_variant	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341765_41341766delAT	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.641_642delAT	17.37:g.41341767_41341768delAT	ENSP00000411250:p.His214fs		Somatic				NBR1_ENST00000589872.1_Frame_Shift_Del_p.H214fs|NBR1_ENST00000389312.4_Frame_Shift_Del_p.H214fs|NBR1_ENST00000341165.6_Frame_Shift_Del_p.H214fs|NBR1_ENST00000590996.1_Frame_Shift_Del_p.H214fs|NBR1_ENST00000542611.1_Frame_Shift_Del_p.H193fs	p.H214fs	NM_031858.2	NP_114064.1	WXS	Illumina GAIIx	Phase_I	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	8	1100_1101	+		Breast(137;0.00086)	214					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Frame_Shift_Del	DEL	ENST00000422280.1	37	c.641_642delAT	CCDS45694.1																																																																																				0.465	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		74	198						74	198	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54535324	54535325	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr17:54535324_54535325insAA	ENST00000318698.2	+	13	1585_1586	c.1550_1551insAA	c.(1549-1554)gcaacafs	p.T518fs	ANKFN1_ENST00000566473.2_Frame_Shift_Ins_p.T518fs	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	518								p.A517E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGCTCGCAGCAACAGCACAGC	0.46																																						ENST00000566473.2																			1	Substitution - Missense(1)	p.A517E(1)	large_intestine(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1549-1551)gacfs		ankyrin-repeat and fibronectin type III domain containing 1																																				SO:0001589	frameshift_variant	162282							g.chr17:54535324_54535325insAA	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1551_1552dupAA	17.37:g.54535325_54535326dupAA	ENSP00000321627:p.Thr518fs		Somatic				ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.D517fs	p.D517fs			WXS	Illumina GAIIx	Phase_I	Q8N957	ANKF1_HUMAN			13	1550_1551	+			517						Frame_Shift_Ins	INS	ENST00000318698.2	37	c.1550_1551insAA	CCDS32686.1																																																																																				0.460	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		18	37						18	37	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50728367	50728370	+	Frame_Shift_Del	DEL	TGTG	TGTG	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chr22:50728367_50728370delTGTG	ENST00000449103.1	-	3	784_787	c.644_647delCACA	c.(643-648)acacagfs	p.TQ215fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.TQ215fs			O15031	PLXB2_HUMAN	plexin B2	215	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACGAACTGCTGTGTGTTGGTGGA	0.627																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(643-648)agfs		plexin B2																																				SO:0001589	frameshift_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728367_50728370delTGTG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.644_647delCACA	22.37:g.50728367_50728370delTGTG	ENSP00000409171:p.Thr215fs		Somatic				PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.TQ215fs	p.TQ215fs			WXS	Illumina GAIIx	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	784_787	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	215			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	ENST00000449103.1	37	c.644_647delCACA	CCDS43035.1																																																																																				0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		10	59						10	59	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76919038	76919038	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5844-01A-11D-1669-08	TCGA-B4-5844-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e5aea05-4ff2-43ea-a516-26dcef52b132	773f9a87-7513-4ac8-a8a3-833470984fb4	g.chrX:76919038delT	ENST00000373344.5	-	12	4167	c.3953delA	c.(3952-3954)aatfs	p.N1318fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1280fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1318	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTGACTTGATTTTTTGCTTC	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3952-3954)atfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						51.0	43.0	45.0					X																	76919038		2202	4296	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76919038delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3953delA	X.37:g.76919038delT	ENSP00000362441:p.Asn1318fs		Somatic				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1280fs	p.N1318fs	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			12	4167	-			1318					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3953delA	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		13	33						13	33	---	---	---	---
