#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FERD3L	222894	broad.mit.edu	37	7	19184880	19184880	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:19184880C>T	ENST00000275461.3	-	1	164	c.106G>A	c.(106-108)Ggg>Agg	p.G36R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	36			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G36R(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AAGGAGACCCCGGGTGCGAAG	0.657																																						ENST00000275461.3																			1	Substitution - Missense(1)	p.G36R(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(106-108)Ggg>Agg		Fer3-like bHLH transcription factor							38.0	36.0	37.0					7																	19184880		2203	4299	6502	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184880C>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.106G>A	7.37:g.19184880C>T	ENSP00000275461:p.Gly36Arg					AC003986.5_ENST00000452700.1_RNA	p.G36R	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN			1	164	-			36		G -> R (in a colorectal cancer sample; somatic mutation).			Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.106G>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	5.099	0.203845	0.09704	.	.	ENSG00000146618	ENST00000275461	D	0.96522	-4.04	5.39	3.58	0.41010	.	0.919858	0.09287	N	0.822950	D	0.92064	0.7485	L	0.29908	0.895	0.28012	N	0.934869	B	0.22003	0.063	B	0.15484	0.013	D	0.84325	0.0518	10	0.35671	T	0.21	-14.7993	7.6935	0.28581	0.0:0.7185:0.1343:0.1473	.	36	Q96RJ6	FER3L_HUMAN	R	36	ENSP00000275461:G36R	ENSP00000275461:G36R	G	-	1	0	FERD3L	19151405	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	1.152000	0.31663	0.652000	0.30806	0.650000	0.86243	GGG		0.657	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			4	43	0	0	0	1	0	4	43				
DST	667	broad.mit.edu	37	6	56484250	56484250	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:56484250C>T	ENST00000370765.6	-	23	4689	c.4582G>A	c.(4582-4584)Gat>Aat	p.D1528N	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTAGATGATCTGATTTTCTC	0.313																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4582-4584)Gat>Aat		dystonin							61.0	61.0	61.0					6																	56484250		2198	4298	6496	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484250C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4582G>A	6.37:g.56484250C>T	ENSP00000359801:p.Asp1528Asn					DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	p.D1528N	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	4689	-	Lung NSC(77;0.103)		5205					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.4582G>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547056	0.45383	.	.	ENSG00000151914	ENST00000370765	T	0.34667	1.35	5.46	5.46	0.80206	.	.	.	.	.	T	0.11239	0.0274	.	.	.	0.20703	N	0.999861	B	0.10296	0.003	B	0.08055	0.003	T	0.10268	-1.0637	7	0.23302	T	0.38	.	10.4582	0.44563	0.0:0.8807:0.0:0.1193	.	1528	Q03001-3	.	N	1528	ENSP00000359801:D1528N	ENSP00000359801:D1528N	D	-	1	0	DST	56592209	0.954000	0.32549	0.931000	0.37212	0.906000	0.53458	2.538000	0.45710	2.557000	0.86248	0.585000	0.79938	GAT		0.313	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		15	26	0	0	0	1	0	15	26				
PIK3CA	5290	broad.mit.edu	37	3	178937422	178937422	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:178937422T>C	ENST00000263967.3	+	12	1967	c.1810T>C	c.(1810-1812)Tgt>Cgt	p.C604R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C604R(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACTTCTGGACTGTAATTACCC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.C604R(2)	endometrium(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1810-1812)Tgt>Cgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							64.0	59.0	60.0					3																	178937422		1815	4069	5884	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178937422T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1810T>C	3.37:g.178937422T>C	ENSP00000263967:p.Cys604Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C604R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		12	1967	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		604			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1810T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671537	0.88348	.	.	ENSG00000121879	ENST00000263967	T	0.63580	-0.05	5.97	5.97	0.96955	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.046220	0.85682	D	0.000000	T	0.66896	0.2836	L	0.46157	1.445	0.80722	D	1	P	0.43633	0.813	P	0.51055	0.657	T	0.62900	-0.6756	10	0.28530	T	0.3	-1.0E-4	16.4534	0.84003	0.0:0.0:0.0:1.0	.	604	P42336	PK3CA_HUMAN	R	604	ENSP00000263967:C604R	ENSP00000263967:C604R	C	+	1	0	PIK3CA	180420116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.285000	0.76669	0.477000	0.44152	TGT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	16	0	0	0	1	0	7	16				
CTBP2	1488	broad.mit.edu	37	10	126716241	126716241	+	Intron	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:126716241C>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.E30K	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.E30K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGCAGGGACTCGGCGTTCTCC	0.587																																						ENST00000309035.6																			1	Substitution - Missense(1)	p.E30K(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(88-90)Gag>Aag		C-terminal binding protein 2							34.0	35.0	35.0					10																	126716241		2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126716241C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11324G>A	10.37:g.126716241C>T						CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron	p.E30K	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	218	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.88G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962061	0.34659	.	.	ENSG00000175029	ENST00000309035	D	0.94793	-3.52	4.34	2.41	0.29592	.	2.456160	0.01836	N	0.034996	D	0.91168	0.7218	.	.	.	0.80722	D	1	P	0.50710	0.938	B	0.37091	0.241	D	0.84405	0.0562	9	0.54805	T	0.06	.	8.5459	0.33421	0.0:0.7553:0.1572:0.0875	.	30	P56545-2	.	K	30	ENSP00000311825:E30K	ENSP00000311825:E30K	E	-	1	0	CTBP2	126706231	0.154000	0.22792	0.166000	0.22797	0.332000	0.28634	1.448000	0.35112	1.142000	0.42291	0.650000	0.86243	GAG		0.587	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		4	26	0	0	0	1	0	4	26				
MT-CO1	4512	broad.mit.edu	37	M	7364	7364	+	Silent	SNP	A	A	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrM:7364A>G	ENST00000361624.2	+	1	1461	c.1461A>G	c.(1459-1461)gaA>gaG	p.E487E	MT-ATP6_ENST00000361899.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	487					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATAGTAGAAGAACCCTCCATA	0.398																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1459-1461)gaA>gaG		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:7364A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1461A>G	M.37:g.7364A>G							p.487_487insE							1	1461	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1461A>G																																																																																					0.398	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		4	122	0	0	0	1	0	4	122				
DSTYK	25778	broad.mit.edu	37	1	205126443	205126443	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:205126443G>A	ENST00000367162.3	-	10	2340	c.2310C>T	c.(2308-2310)agC>agT	p.S770S	DSTYK_ENST00000367161.3_Silent_p.S770S|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CAAGTCCCTGGCTGTGCAGGA	0.488																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2308-2310)agC>agT		dual serine/threonine and tyrosine protein kinase							150.0	130.0	137.0					1																	205126443		2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205126443G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2310C>T	1.37:g.205126443G>A						DSTYK_ENST00000367161.3_Silent_p.S770S|DSTYK_ENST00000367160.4_Intron	p.S770S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			10	2340	-			770			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.2310C>T	CCDS1451.1																																																																																				0.488	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		22	34	0	0	0	1	0	22	34				
ZC4H2	55906	broad.mit.edu	37	X	64141740	64141740	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:64141740G>A	ENST00000374839.3	-	2	288	c.182C>T	c.(181-183)gCc>gTc	p.A61V	ZC4H2_ENST00000545618.1_Missense_Mutation_p.A56V|ZC4H2_ENST00000447788.2_Missense_Mutation_p.A61V|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.A38V	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	61					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCCACATGGGCCATCTTCTC	0.507																																						ENST00000545618.1																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(166-168)gCc>gTc		zinc finger, C4H2 domain containing							182.0	109.0	134.0					X																	64141740		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64141740G>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.182C>T	X.37:g.64141740G>A	ENSP00000363972:p.Ala61Val					ZC4H2_ENST00000337990.2_Missense_Mutation_p.A38V|ZC4H2_ENST00000374839.3_Missense_Mutation_p.A61V|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.A61V	p.A56V			Q9NQZ6	ZC4H2_HUMAN			3	730	-			61					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.167C>T	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329621	0.95733	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.992	T	0.78770	-0.2074	9	0.72032	D	0.01	.	16.1289	0.81412	0.0:0.0:1.0:0.0	.	61;61	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	V	61;56;61;38	.	ENSP00000338650:A38V	A	-	2	0	ZC4H2	64058465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.529000	0.98049	2.499000	0.84300	0.529000	0.55759	GCC		0.507	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		7	20	0	0	0	1	0	7	20				
C14orf79	122616	broad.mit.edu	37	14	105455303	105455303	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:105455303T>G	ENST00000547315.1	+	2	1086	c.447T>G	c.(445-447)atT>atG	p.I149M	C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549240.1_5'Flank|C14orf79_ENST00000549584.1_3'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	149										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			ATGAGAACATTTTAAAGTGTG	0.373																																						ENST00000547315.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(445-447)atT>atG		chromosome 14 open reading frame 79							91.0	86.0	88.0					14																	105455303		1854	4090	5944	SO:0001583	missense	122616							g.chr14:105455303T>G		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.447T>G	14.37:g.105455303T>G	ENSP00000450114:p.Ile149Met					C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR	p.I149M	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		2	1086	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	149					B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	c.447T>G	CCDS42000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.26|12.26	1.884244|1.884244	0.33255|0.33255	.|.	.|.	ENSG00000140104|ENSG00000140104	ENST00000551606|ENST00000547315	.|.	.|.	.|.	4.53|4.53	3.35|3.35	0.38373|0.38373	.|.	.|0.567142	.|0.13837	.|N	.|0.359336	T|T	0.63965|0.63965	0.2556|0.2556	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.64776	.|0.929	T|T	0.60459|0.60459	-0.7259|-0.7259	5|9	.|0.72032	.|D	.|0.01	-4.0891|-4.0891	7.3387|7.3387	0.26625|0.26625	0.1952:0.0:0.0:0.8048|0.1952:0.0:0.0:0.8048	.|.	.|149	.|Q96F83	.|CN079_HUMAN	C|M	43|149	.|.	.|ENSP00000374614:I149M	F|I	+|+	2|3	0|3	C14orf79|C14orf79	104526348|104526348	0.958000|0.958000	0.32768|0.32768	0.136000|0.136000	0.22124|0.22124	0.188000|0.188000	0.23474|0.23474	0.405000|0.405000	0.21015|0.21015	0.592000|0.592000	0.29728|0.29728	0.456000|0.456000	0.33151|0.33151	TTT|ATT		0.373	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		6	32	0	0	0	1	0	6	32				
MT-ND1	4535	broad.mit.edu	37	M	3407	3407	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrM:3407G>A	ENST00000361390.2	+	1	101	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MT-TA_ENST00000387392.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	34					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TATACAACTACGCAAAGGCCC	0.488																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(100-102)cGc>cAc		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3407G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.101G>A	M.37:g.3407G>A	ENSP00000354687:p.Arg34His						p.34_34insH							1	101	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.101G>A																																																																																					0.488	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		166	19	0	0	0	1	0	166	19				
PRTG	283659	broad.mit.edu	37	15	55931950	55931950	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:55931950G>C	ENST00000389286.4	-	13	2261	c.2214C>G	c.(2212-2214)atC>atG	p.I738M		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGTGCAGGAAGATGGAAGATG	0.488																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2212-2214)atC>atG		protogenin							168.0	182.0	177.0					15																	55931950		2071	4200	6271	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55931950G>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2214C>G	15.37:g.55931950G>C	ENSP00000373937:p.Ile738Met						p.I738M	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	13	2261	-			738			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000389286.4	37	c.2214C>G	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843514	0.71488	.	.	ENSG00000166450	ENST00000389286	T	0.59772	0.24	5.81	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.134566	0.51477	D	0.000084	T	0.60143	0.2246	M	0.66439	2.03	0.80722	D	1	P	0.50819	0.939	P	0.49799	0.622	T	0.61584	-0.7033	10	0.87932	D	0	-17.6855	6.7351	0.23405	0.1444:0.0:0.7111:0.1444	.	738	Q2VWP7	PRTG_HUMAN	M	738	ENSP00000373937:I738M	ENSP00000373937:I738M	I	-	3	3	PRTG	53719242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.346000	0.33964	0.793000	0.33875	0.655000	0.94253	ATC		0.488	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		43	42	0	0	0	1	0	43	42				
SLCO4A1	28231	broad.mit.edu	37	20	61288206	61288206	+	Missense_Mutation	SNP	C	C	T	rs578241688		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:61288206C>T	ENST00000370507.1	+	1	496	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.R134C			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	134					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCTGGAGCGCCGCTATGACCT	0.612																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(400-402)Cgc>Tgc		solute carrier organic anion transporter family, member 4A1							47.0	47.0	47.0					20																	61288206		2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288206C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.400C>T	20.37:g.61288206C>T	ENSP00000359538:p.Arg134Cys					SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R134C	p.R134C	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	605	+	Breast(26;3.65e-08)		134					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.400C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378378	0.42207	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.57752	0.38;0.38	4.58	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83983	0.0333	10	0.87932	D	0	.	11.6696	0.51393	0.3224:0.6776:0.0:0.0	.	134	Q96BD0	SO4A1_HUMAN	C	134	ENSP00000217159:R134C;ENSP00000359538:R134C	ENSP00000217159:R134C	R	+	1	0	SLCO4A1	60758651	1.000000	0.71417	0.767000	0.31495	0.015000	0.08874	4.630000	0.61297	0.864000	0.35578	0.462000	0.41574	CGC		0.612	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		7	71	0	0	0	1	0	7	71				
CACNA1E	777	broad.mit.edu	37	1	181702803	181702803	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:181702803C>T	ENST00000367573.2	+	21	3179	c.3179C>T	c.(3178-3180)aCg>aTg	p.T1060M	CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1041M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1011M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1060M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T667M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T992M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T1041M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1060					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGGCCAACACGGACAAGGCC	0.642																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3121-3123)aCg>aTg		calcium channel, voltage-dependent, R type, alpha 1E subunit							50.0	57.0	54.0					1																	181702803		2201	4284	6485	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702803C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3179C>T	1.37:g.181702803C>T	ENSP00000356545:p.Thr1060Met					CACNA1E_ENST00000367567.4_Missense_Mutation_p.T667M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T992M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1041M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1011M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1060M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1060M	p.T1041M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			20	3287	+			1060					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3122C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266685	0.23136	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96396	-3.92;-3.92;-3.92;-3.92;-4.0;-3.92;-3.92	4.99	0.111	0.14619	.	1.142800	0.06128	N	0.670010	D	0.89473	0.6725	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.13145	0.005;0.007;0.001	B;B;B	0.09377	0.001;0.004;0.003	T	0.80647	-0.1289	10	0.39692	T	0.17	.	6.4641	0.21971	0.1335:0.5498:0.0:0.3168	.	1041;1060;1060	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1060;1041;1011;992;667;1041;1060	ENSP00000356542:T1060M;ENSP00000434814:T1041M;ENSP00000350183:T1011M;ENSP00000351101:T992M;ENSP00000356539:T667M;ENSP00000353222:T1041M;ENSP00000356545:T1060M	ENSP00000350183:T1011M	T	+	2	0	CACNA1E	179969426	0.000000	0.05858	0.657000	0.29651	0.731000	0.41821	0.001000	0.13038	0.107000	0.17824	-0.397000	0.06425	ACG		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	15	0	0	0	1	0	5	15				
TRPM2	7226	broad.mit.edu	37	21	45811363	45811363	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:45811363C>T	ENST00000397928.1	+	11	2094	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Intron|TRPM2_ENST00000300482.5_Missense_Mutation_p.A550V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A550V	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	550					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGGCTTgcgcgcccgcggcg	0.687																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1648-1650)gCg>gTg		transient receptor potential cation channel, subfamily M, member 2							30.0	25.0	27.0					21																	45811363		2202	4299	6501	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45811363C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1649C>T	21.37:g.45811363C>T	ENSP00000381023:p.Ala550Val					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A550V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A550V|TRPM2_ENST00000300481.9_Intron	p.A550V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			11	2094	+			550					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1649C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	3.032	-0.199386	0.06219	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000397932	T;T;T	0.51574	0.81;0.81;0.7	4.16	1.28	0.21552	.	7.618970	0.00357	N	0.000037	T	0.39886	0.1095	L	0.40543	1.245	0.09310	N	0.999999	B;B;B	0.13594	0.008;0.006;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.10382	-1.0632	10	0.32370	T	0.25	-4.3972	5.5876	0.17283	0.0:0.6579:0.1619:0.1802	.	550;336;550	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	V	550	ENSP00000300482:A550V;ENSP00000381023:A550V;ENSP00000381026:A550V	ENSP00000300482:A550V	A	+	2	0	TRPM2	44635791	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.091000	0.03369	-0.037000	0.13646	0.655000	0.94253	GCG		0.687	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		12	19	0	0	0	1	0	12	19				
HDAC8	55869	broad.mit.edu	37	X	71684476	71684476	+	Silent	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:71684476T>C	ENST00000373573.3	-	8	1184	c.843A>G	c.(841-843)ccA>ccG	p.P281P	HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Silent_p.P86P|HDAC8_ENST00000373589.4_Silent_p.P190P	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	281	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CAATTCCCACTGGAGTCATGT	0.448																																						ENST00000373573.3																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(841-843)ccA>ccG		histone deacetylase 8	Vorinostat(DB02546)						157.0	133.0	141.0					X																	71684476		2203	4300	6503	SO:0001819	synonymous_variant	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71684476T>C	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.843A>G	X.37:g.71684476T>C						HDAC8_ENST00000373589.4_Silent_p.P190P|HDAC8_ENST00000429103.2_Silent_p.P86P|HDAC8_ENST00000373583.1_Intron	p.P281P	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN			8	1184	-	Renal(35;0.156)		281			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Silent	SNP	ENST00000373573.3	37	c.843A>G	CCDS14420.1																																																																																				0.448	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		16	84	0	0	0	1	0	16	84				
CES1P1	51716	broad.mit.edu	37	16	55806427	55806427	+	RNA	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:55806427C>G	ENST00000571348.1	+	0	729					NR_003276.2		Q9UKY3	CES1P_HUMAN	carboxylesterase 1 pseudogene 1						anatomical structure morphogenesis (GO:0009653)|metabolic process (GO:0008152)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)										GAAAGTGTCTCTGTTCTTGTG	0.552																																						ENST00000571348.1																			0																																																			0							g.chr16:55806427C>G	AF106005		16q12.2	2013-07-10	2010-10-12	2010-10-12	ENSG00000228695	ENSG00000228695			18546	pseudogene	pseudogene			"""carboxylesterase 4-like"", ""carboxylesterase 4, pseudogene"""	CES4		10452915, 20931200	Standard	NR_003276		Approved	PCE-3, CESR, CES1A3	uc010cce.3	Q9UKY3	OTTHUMG00000154668		16.37:g.55806427C>G								NR_003276.2						0	729	+								A2RRL8|B9ZVS2	RNA	SNP	ENST00000571348.1	37																																																																																						0.552	CES1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000440035.1	NR_003276		7	16	0	0	0	1	0	7	16				
ECM1	1893	broad.mit.edu	37	1	150485731	150485731	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:150485731G>A	ENST00000369047.4	+	10	1536	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	ECM1_ENST00000470432.1_3'UTR|LINC00568_ENST00000416894.1_lincRNA|ECM1_ENST00000369049.4_Missense_Mutation_p.D498N|ECM1_ENST00000346569.6_Missense_Mutation_p.D346N	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	471					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTCATCAATGATCTGTGTGG	0.478																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(1411-1413)Gat>Aat		extracellular matrix protein 1							139.0	134.0	136.0					1																	150485731		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150485731G>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1411G>A	1.37:g.150485731G>A	ENSP00000358043:p.Asp471Asn					ECM1_ENST00000369049.4_Missense_Mutation_p.D498N|ECM1_ENST00000346569.6_Missense_Mutation_p.D346N|ECM1_ENST00000470432.1_3'UTR	p.D471N	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1536	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		471					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1411G>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146454	0.21288	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.75367	-0.93;-0.93;-0.93	4.67	1.31	0.21738	.	0.907757	0.09441	N	0.801693	T	0.31734	0.0806	N	0.25647	0.755	0.09310	N	1	B;B;B	0.18310	0.027;0.027;0.003	B;B;B	0.17979	0.02;0.02;0.007	T	0.18461	-1.0336	10	0.13108	T	0.6	-0.3438	4.2306	0.10601	0.2139:0.0:0.6121:0.174	.	498;346;471	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	N	498;471;346	ENSP00000358045:D498N;ENSP00000358043:D471N;ENSP00000271630:D346N	ENSP00000271630:D346N	D	+	1	0	ECM1	148752355	0.002000	0.14202	0.006000	0.13384	0.952000	0.60782	0.210000	0.17455	0.081000	0.16988	0.563000	0.77884	GAT		0.478	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		13	74	0	0	0	1	0	13	74				
RNF128	79589	broad.mit.edu	37	X	105937564	105937564	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:105937564G>A	ENST00000324342.3	+	1	497	c.332G>A	c.(331-333)aGa>aAa	p.R111K		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	137	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ACAGCGGGCAGAAGAAATGCT	0.383																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(331-333)aGa>aAa		ring finger protein 128, E3 ubiquitin protein ligase							64.0	61.0	62.0					X																	105937564		2203	4299	6502	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937564G>A	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.332G>A	X.37:g.105937564G>A	ENSP00000316127:p.Arg111Lys						p.R111K	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	497	+			137			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.332G>A	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	G	8.998	0.979363	0.18812	.	.	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.06528	3.29;3.29	6.16	5.18	0.71444	.	.	.	.	.	T	0.04724	0.0128	N	0.20986	0.625	0.80722	D	1	B	0.28178	0.202	B	0.29077	0.098	T	0.36163	-0.9759	9	0.09084	T	0.74	.	11.1484	0.48444	0.1118:0.0:0.8882:0.0	.	111	Q8TEB7-2	.	K	84;111	ENSP00000412610:R84K;ENSP00000316127:R111K	ENSP00000316127:R111K	R	+	2	0	RNF128	105824220	0.945000	0.32115	0.954000	0.39281	0.993000	0.82548	1.717000	0.37991	1.100000	0.41517	0.594000	0.82650	AGA		0.383	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		13	25	0	0	0	1	0	13	25				
NRXN2	9379	broad.mit.edu	37	11	64374750	64374750	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:64374750G>A	ENST00000377551.1	-	22	5268	c.5057C>T	c.(5056-5058)gCg>gTg	p.A1686V	NRXN2_ENST00000409571.1_Missense_Mutation_p.A1679V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A640V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1616V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A1686V			Q9P2S2	NRX2A_HUMAN	neurexin 2	1686					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTTCACCACCGCCCCATTGCT	0.582																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(5056-5058)gCg>gTg		neurexin 2							52.0	53.0	53.0					11																	64374750		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64374750G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.5057C>T	11.37:g.64374750G>A	ENSP00000366774:p.Ala1686Val					NRXN2_ENST00000377559.3_Missense_Mutation_p.A1616V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A640V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1679V|NRXN2_ENST00000377551.1_Missense_Mutation_p.A1686V	p.A1686V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			23	5518	-			1686					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.5057C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780642	0.70222	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.70631	-0.14;-0.43;-0.5;-0.43;-0.33	4.46	3.53	0.40419	.	0.132994	0.25830	U	0.028032	T	0.77671	0.4165	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.76494	0.998;0.99;0.999;0.994	P;P;P;P	0.62649	0.891;0.734;0.905;0.562	T	0.79169	-0.1914	10	0.72032	D	0.01	.	9.4359	0.38639	0.1061:0.0:0.8939:0.0	.	1616;1686;1432;640	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	V	640;1686;1616;1686;1616;1679	ENSP00000301894:A640V;ENSP00000366774:A1686V;ENSP00000366782:A1616V;ENSP00000265459:A1686V;ENSP00000386416:A1679V	ENSP00000265459:A1686V	A	-	2	0	NRXN2	64131326	1.000000	0.71417	0.972000	0.41901	0.958000	0.62258	7.664000	0.83830	2.033000	0.60031	0.313000	0.20887	GCG		0.582	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		9	29	0	0	0	1	0	9	29				
PUS3	83480	broad.mit.edu	37	11	125765618	125765618	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:125765618C>G	ENST00000530811.1	-	2	490	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E149Q|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	149					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTAGCCTCCTCTTTTACATTA	0.493																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(445-447)Gag>Cag		pseudouridylate synthase 3							89.0	100.0	96.0					11																	125765618		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125765618C>G	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.445G>C	11.37:g.125765618C>G	ENSP00000432386:p.Glu149Gln					PUS3_ENST00000530811.1_Missense_Mutation_p.E149Q|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron	p.E149Q	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	3	542	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	149					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.445G>C	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.197485	0.01594	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158	T;T;T	0.56103	1.42;1.42;0.48	6.06	-0.144	0.13440	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	1.053990	0.07305	N	0.874746	T	0.34571	0.0902	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.29942	0.109	T	0.30238	-0.9985	10	0.26408	T	0.33	-1.44	3.2908	0.06948	0.1036:0.3853:0.1013:0.4098	.	149	Q9BZE2	PUS3_HUMAN	Q	149	ENSP00000227474:E149Q;ENSP00000432386:E149Q;ENSP00000432272:E149Q	ENSP00000227474:E149Q	E	-	1	0	PUS3	125270828	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.012000	0.13287	-0.265000	0.09352	0.655000	0.94253	GAG		0.493	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		26	69	0	0	0	1	0	26	69				
TRGV2	6974	broad.mit.edu	37	7	38402540	38402540	+	RNA	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:38402540C>G	ENST00000426402.2	-	0	468									T cell receptor gamma variable 2																		TCAAGTTGTTCCTTGTGCTTG	0.468																																						ENST00000426402.2																			0																				106.0	98.0	101.0					7																	38402540		1918	4122	6040			0							g.chr7:38402540C>G	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402540C>G														0	468	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.468	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		27	38	0	0	0	1	0	27	38				
LZTR1	8216	broad.mit.edu	37	22	21344752	21344752	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr22:21344752C>G	ENST00000215739.8	+	8	1088	c.729C>G	c.(727-729)ttC>ttG	p.F243L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	243					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTTTGTATTCTCTGGGCAAA	0.567																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(727-729)ttC>ttG		leucine-zipper-like transcription regulator 1							109.0	103.0	105.0					22																	21344752		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21344752C>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.729C>G	22.37:g.21344752C>G	ENSP00000215739:p.Phe243Leu					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	p.F243L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		8	1088	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	243					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.729C>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810844	0.70797	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.68624	-0.34;-0.34	5.7	4.68	0.58851	Kelch-type beta propeller (1);	0.097484	0.64402	D	0.000001	T	0.73783	0.3631	M	0.80616	2.505	0.58432	D	0.999999	B;P;B;B	0.35944	0.046;0.529;0.026;0.012	B;P;B;B	0.46585	0.066;0.521;0.022;0.02	T	0.76926	-0.2778	10	0.87932	D	0	-33.8228	9.3171	0.37941	0.0:0.837:0.0:0.163	.	224;202;243;202	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	202;243;224	ENSP00000215739:F243L;ENSP00000374006:F224L	ENSP00000215739:F243L	F	+	3	2	LZTR1	19674752	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.106000	0.31098	2.688000	0.91661	0.655000	0.94253	TTC		0.567	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		92	29	0	0	0	1	0	92	29				
JPH4	84502	broad.mit.edu	37	14	24040296	24040296	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:24040296C>T	ENST00000397118.3	-	6	2546	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	JPH4_ENST00000356300.4_Silent_p.E548E|JPH4_ENST00000544177.1_Silent_p.E213E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	548					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCTTCATCCTCCCCCTCCT	0.672																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1642-1644)gaG>gaA		junctophilin 4							70.0	76.0	74.0					14																	24040296		2203	4299	6502	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040296C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1644G>A	14.37:g.24040296C>T						JPH4_ENST00000356300.4_Silent_p.E548E|JPH4_ENST00000544177.1_Silent_p.E213E	p.E548E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2546	-	all_cancers(95;0.000251)		548					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1644G>A	CCDS9603.1																																																																																				0.672	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		65	61	0	0	0	1	0	65	61				
OS9	10956	broad.mit.edu	37	12	58113962	58113962	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:58113962G>A	ENST00000315970.7	+	13	1722	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	OS9_ENST00000389146.6_Missense_Mutation_p.E546K|OS9_ENST00000439210.2_Intron|OS9_ENST00000389142.5_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000257966.8_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000413095.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	561					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GACTGTCCTCGAGATGAAACG	0.602																																						ENST00000315970.7																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(1681-1683)Gag>Aag		osteosarcoma amplified 9, endoplasmic reticulum lectin							79.0	79.0	79.0					12																	58113962		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58113962G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1681G>A	12.37:g.58113962G>A	ENSP00000318165:p.Glu561Lys					OS9_ENST00000413095.2_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000551035.1_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.E546K	p.E561K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		13	1722	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		561					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1681G>A	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827848	0.90955	.	.	ENSG00000135506	ENST00000315970;ENST00000389146	T;T	0.36157	1.31;1.27	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.994;0.983	P;B	0.49012	0.598;0.307	T	0.13019	-1.0525	10	0.56958	D	0.05	.	15.3374	0.74269	0.0:0.0:1.0:0.0	.	546;561	A6NLB2;Q13438	.;OS9_HUMAN	K	561;546	ENSP00000318165:E561K;ENSP00000373798:E546K	ENSP00000318165:E561K	E	+	1	0	OS9	56400229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.358000	0.66064	2.599000	0.87857	0.655000	0.94253	GAG		0.602	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		39	85	0	0	0	1	0	39	85				
IGHM	3507	broad.mit.edu	37	14	106320490	106320490	+	RNA	SNP	G	G	A	rs553799938		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:106320490G>A	ENST00000390559.2	-	0	1319							P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCAGGGACACGTTGTACAGGG	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		10632	0.0		0.0	False		,,,				2504	0.0					ENST00000390559.2																			0																				121.0	128.0	125.0					14																	106320490		2112	4209	6321			0							g.chr14:106320490G>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106320490G>A														0	1319	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.652	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		57	41	0	0	0	1	0	57	41				
B4GALT3	8703	broad.mit.edu	37	1	161143778	161143778	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:161143778C>T	ENST00000319769.5	-	5	773	c.551G>A	c.(550-552)cGt>cAt	p.R184H	B4GALT3_ENST00000367998.1_Missense_Mutation_p.R184H|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	184					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CTCTTCATCACGCAGGGCCTC	0.527																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(550-552)cGt>cAt		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						120.0	99.0	106.0					1																	161143778		2203	4300	6503	SO:0001583	missense	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161143778C>T	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.551G>A	1.37:g.161143778C>T	ENSP00000320965:p.Arg184His					B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R184H|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron	p.R184H	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	773	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		184					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	c.551G>A	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803576	0.70682	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000541560;ENST00000367998;ENST00000367997	T;T	0.34072	1.38;1.38	5.27	3.42	0.39159	.	0.181257	0.47852	D	0.000215	T	0.34337	0.0894	L	0.56340	1.77	0.31957	N	0.608881	D;D	0.71674	0.994;0.998	P;D	0.65773	0.86;0.938	T	0.30208	-0.9986	10	0.87932	D	0	.	6.8311	0.23911	0.0:0.6643:0.0:0.3357	.	184;184	B3KPV4;O60512	.;B4GT3_HUMAN	H	184;161;184;184;184	ENSP00000320965:R184H;ENSP00000356977:R184H	ENSP00000320965:R184H	R	-	2	0	B4GALT3	159410402	0.997000	0.39634	0.896000	0.35187	0.965000	0.64279	1.075000	0.30716	0.803000	0.34113	0.655000	0.94253	CGT		0.527	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		40	37	0	0	0	1	0	40	37				
HGF	3082	broad.mit.edu	37	7	81388026	81388026	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:81388026C>G	ENST00000222390.5	-	3	575	c.349G>C	c.(349-351)Gac>Cac	p.D117H	HGF_ENST00000423064.2_Missense_Mutation_p.D117H|HGF_ENST00000457544.2_Missense_Mutation_p.D117H|HGF_ENST00000453018.1_Missense_Mutation_p.D14H|HGF_ENST00000453411.1_Missense_Mutation_p.D117H|HGF_ENST00000444829.2_Missense_Mutation_p.D117H|HGF_ENST00000354224.6_Missense_Mutation_p.D117H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	117	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCATAGAGGTCAAATTCATGG	0.348																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(349-351)Gac>Cac		hepatocyte growth factor (hepapoietin A; scatter factor)							102.0	101.0	102.0					7																	81388026		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81388026C>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.349G>C	7.37:g.81388026C>G	ENSP00000222390:p.Asp117His					HGF_ENST00000444829.2_Missense_Mutation_p.D117H|HGF_ENST00000457544.2_Missense_Mutation_p.D117H|HGF_ENST00000354224.6_Missense_Mutation_p.D117H|HGF_ENST00000453411.1_Missense_Mutation_p.D117H|HGF_ENST00000423064.2_Missense_Mutation_p.D117H|HGF_ENST00000453018.1_Missense_Mutation_p.D14H	p.D117H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			3	575	-			117			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.349G>C	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143804	0.77888	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881;ENST00000421558	D;D;D;D;D;D;T;D;T	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;0.01;-2.65;-0.36	5.16	5.16	0.70880	PAN-1 domain (1);Apple-like (2);Kringle-like fold (1);	0.155477	0.56097	D	0.000031	D	0.95004	0.8383	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.997;1.0;1.0	D	0.95137	0.8260	10	0.59425	D	0.04	.	18.6462	0.91410	0.0:1.0:0.0:0.0	.	152;117;117;117;117	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	H	117;117;117;117;117;117;117;14;117;117	ENSP00000222390:D117H;ENSP00000391238:D117H;ENSP00000389854:D117H;ENSP00000408270:D117H;ENSP00000413829:D117H;ENSP00000346164:D117H;ENSP00000395468:D14H;ENSP00000396307:D117H;ENSP00000388592:D117H	ENSP00000222390:D117H	D	-	1	0	HGF	81225962	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.011000	0.70760	2.405000	0.81733	0.467000	0.42956	GAC		0.348	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		16	13	0	0	0	1	0	16	13				
ZNF283	284349	broad.mit.edu	37	19	44352095	44352095	+	Nonsense_Mutation	SNP	C	C	T	rs186025400	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:44352095C>T	ENST00000324461.7	+	7	1639	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.Q309*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	448					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)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCACCTTTCTCAACATCAGAA	0.393																																						ENST00000324461.7																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(1342-1344)Caa>Taa		zinc finger protein 283							77.0	86.0	83.0					19																	44352095		2196	4296	6492	SO:0001587	stop_gained	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352095C>T	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1342C>T	19.37:g.44352095C>T	ENSP00000327314:p.Gln448*					ZNF283_ENST00000588797.1_Nonsense_Mutation_p.Q309*	p.Q448*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			7	1639	+		Prostate(69;0.0352)	448					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	ENST00000324461.7	37	c.1342C>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388493	0.61956	.	.	ENSG00000167637	ENST00000324461	.	.	.	3.04	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	6.6279	0.22841	0.3024:0.399:0.2986:0.0	.	.	.	.	X	448	.	ENSP00000327314:Q448X	Q	+	1	0	ZNF283	49043935	0.000000	0.05858	0.511000	0.27724	0.199000	0.23934	-5.405000	0.00125	0.118000	0.18165	0.455000	0.32223	CAA		0.393	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		39	58	0	0	0	1	0	39	58				
LRP5	4041	broad.mit.edu	37	11	68170953	68170953	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:68170953G>A	ENST00000294304.7	+	8	1693	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	529	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGCAGGTGATCAATGTTG	0.592																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1585-1587)gtG>gtA		low density lipoprotein receptor-related protein 5							73.0	59.0	64.0					11																	68170953		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68170953G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1587G>A	11.37:g.68170953G>A							p.V529V	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			8	1693	+			529			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.1587G>A	CCDS8181.1																																																																																				0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		10	40	0	0	0	1	0	10	40				
PCDHGA2	56113	broad.mit.edu	37	5	140719629	140719629	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140719629C>T	ENST00000394576.2	+	1	1091	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			CTTCCAGGAACCATAATTGGG	0.438																																						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.(1090-1092)aCc>aTc									81.0	84.0	83.0					5																	140719629		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719629C>T	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.1091C>T	5.37:g.140719629C>T	ENSP00000378077:p.Thr364Ile					PCDHGA1_ENST00000517417.1_Intron	p.T364I	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1091	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1091C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.69	2.012244	0.35511	.	.	ENSG00000081853	ENST00000394576	T	0.58210	0.35	4.87	3.99	0.46301	Cadherin (3);Cadherin-like (1);	0.000000	0.42548	U	0.000693	T	0.77384	0.4122	M	0.91354	3.2	0.32260	N	0.570253	D;D	0.65815	0.995;0.992	D;D	0.72982	0.979;0.958	D	0.85662	0.1289	10	0.72032	D	0.01	.	15.2826	0.73797	0.0:0.8593:0.1407:0.0	.	364;364	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	I	364	ENSP00000378077:T364I	ENSP00000378077:T364I	T	+	2	0	PCDHGA2	140699813	0.995000	0.38212	0.810000	0.32431	0.084000	0.17831	5.975000	0.70475	1.164000	0.42652	0.313000	0.20887	ACC		0.438	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		11	78	0	0	0	1	0	11	78				
PCLO	27445	broad.mit.edu	37	7	82584412	82584412	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:82584412C>G	ENST00000333891.9	-	5	6194	c.5857G>C	c.(5857-5859)Gag>Cag	p.E1953Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1953Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATATAATCCTCTATTAGCATC	0.368																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5857-5859)Gag>Cag		piccolo presynaptic cytomatrix protein							75.0	74.0	75.0					7																	82584412		1842	4085	5927	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584412C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5857G>C	7.37:g.82584412C>G	ENSP00000334319:p.Glu1953Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.E1953Q	p.E1953Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6194	-			1884						Missense_Mutation	SNP	ENST00000333891.9	37	c.5857G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037531	0.35989	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.23348	1.91;1.92	5.57	5.57	0.84162	.	.	.	.	.	T	0.49423	0.1556	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.46373	-0.9196	9	0.87932	D	0	.	19.5403	0.95271	0.0:1.0:0.0:0.0	.	1953;1953	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1884;1953;1953	ENSP00000334319:E1953Q;ENSP00000388393:E1953Q	ENSP00000334319:E1953Q	E	-	1	0	PCLO	82422348	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.792000	0.85828	2.619000	0.88677	0.655000	0.94253	GAG		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	47	0	0	0	1	0	5	47				
PABPC1	26986	broad.mit.edu	37	8	101727709	101727709	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:101727709C>A	ENST00000318607.5	-	4	1752	c.624G>T	c.(622-624)aaG>aaT	p.K208N	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.K163N|PABPC1_ENST00000522387.1_Missense_Mutation_p.K176N	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	208	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAAAGAGATCCTTAAGGCGCT	0.353																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(622-624)aaG>aaT		poly(A) binding protein, cytoplasmic 1							102.0	96.0	98.0					8																	101727709		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101727709C>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.624G>T	8.37:g.101727709C>A	ENSP00000313007:p.Lys208Asn					PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.K176N|PABPC1_ENST00000519004.1_Missense_Mutation_p.K163N	p.K208N	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		4	1752	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		208			CSDE1-binding.|RRM 3.		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.624G>T	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.25|14.25|14.25	2.480745|2.480745|2.480745	0.44044|0.44044|0.44044	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000519596;ENST00000523555|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	.|D;D;T|.	.|0.86297|.	.|-2.1;-2.1;2.14|.	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000004|.	.|T|T	.|0.58509|0.58509	.|0.2127|0.2127	L|L|L	0.43701|0.43701|0.43701	1.375|1.375|1.375	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|B;B;B|.	.|0.23185|.	.|0.014;0.081;0.081|.	.|B;B;B|.	.|0.32342|.	.|0.049;0.144;0.093|.	.|T|T	.|0.54931|0.54931	.|-0.8219|-0.8219	.|10|5	.|0.42905|.	.|T|.	.|0.14|.	.|.|.	12.1463|12.1463|12.1463	0.54026|0.54026|0.54026	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.|.	.|176;208;208|.	.|E7ERJ7;B3KT93;P11940|.	.|.;.;PABP1_HUMAN|.	X|N|M	41;155|208;208;163;176|80	.|ENSP00000313007:K208N;ENSP00000429594:K163N;ENSP00000429395:K176N|.	.|ENSP00000313007:K208N|.	G|K|R	-|-|-	1|3|2	0|2|0	PABPC1|PABPC1|PABPC1	101796885|101796885|101796885	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	2.725000|2.725000|2.725000	0.47294|0.47294|0.47294	2.482000|2.482000|2.482000	0.83794|0.83794|0.83794	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GGA|AAG|AGG		0.353	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		8	89	1	0	1.26484e-09	1	1.34917e-09	8	89				
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Nonsense_Mutation	SNP	G	G	T	rs377669113		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:161113261G>T	ENST00000274545.5	+	2	497	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Nonsense_Mutation_p.E22*			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	22					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGGAAACTCGAAGTTGAAGG	0.478										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(64-66)Gaa>Taa		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						90.0	89.0	89.0					5																	161113261		2203	4300	6503	SO:0001587	stop_gained	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113261G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.64G>T	5.37:g.161113261G>T	ENSP00000274545:p.Glu22*	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Nonsense_Mutation_p.E22*|GABRA6_ENST00000522269.1_3'UTR	p.E22*	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	306	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	22					A8K096|Q4VAV2	Nonsense_Mutation	SNP	ENST00000274545.5	37	c.64G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510520	0.64522	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	.	.	.	5.63	2.51	0.30379	.	0.885835	0.10206	N	0.702680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	9.0197	0.36193	0.3452:0.0:0.6548:0.0	.	.	.	.	X	22	.	ENSP00000274545:E22X	E	+	1	0	GABRA6	161045839	0.003000	0.15002	0.744000	0.31058	0.064000	0.16182	0.024000	0.13555	0.748000	0.32831	0.655000	0.94253	GAA		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			20	42	1	0	1.01871e-10	1	1.10504e-10	20	42				
USP19	10869	broad.mit.edu	37	3	49154288	49154288	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:49154288C>G	ENST00000398888.2	-	6	1013	c.695G>C	c.(694-696)gGa>gCa	p.G232A	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_Missense_Mutation_p.G323A|USP19_ENST00000434032.2_Missense_Mutation_p.G333A|USP19_ENST00000398898.2_Missense_Mutation_p.G270A|USP19_ENST00000398896.1_Missense_Mutation_p.G38A|USP19_ENST00000417901.1_Missense_Mutation_p.G333A|USP19_ENST00000398892.3_Missense_Mutation_p.G270A	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	232					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCTTTCTCTCCTGCCAAAGG	0.552																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(967-969)gGa>gCa		ubiquitin specific peptidase 19							56.0	61.0	60.0					3																	49154288		2027	4190	6217	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49154288C>G	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.695G>C	3.37:g.49154288C>G	ENSP00000381863:p.Gly232Ala					USP19_ENST00000417901.1_Missense_Mutation_p.G333A|USP19_ENST00000434032.2_Missense_Mutation_p.G333A|USP19_ENST00000398888.2_Missense_Mutation_p.G232A|USP19_ENST00000398896.1_Missense_Mutation_p.G38A|USP19_ENST00000398898.2_Missense_Mutation_p.G270A|USP19_ENST00000398892.3_Missense_Mutation_p.G270A	p.G323A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	1286	-			232			CS 2.		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.968G>C	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580499	0.28180	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T;T;T	0.30714	2.12;2.17;2.27;2.3;2.17;2.28;2.27;1.52	5.72	1.55	0.23275	Domain of unknown function DUF1872 (1);HSP20-like chaperone (1);	1.057580	0.07243	N	0.864602	T	0.17534	0.0421	N	0.22421	0.69	0.33186	D	0.550233	B;B;B;B;B;B	0.31209	0.309;0.243;0.201;0.004;0.313;0.0	B;B;B;B;B;B	0.35931	0.197;0.171;0.13;0.004;0.214;0.001	T	0.40459	-0.9562	10	0.07030	T	0.85	-1.631	2.2675	0.04082	0.2786:0.445:0.128:0.1484	.	396;333;323;232;318;38	A5PKX8;E9PEG8;E7EN22;O94966;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.	A	38;270;333;323;270;232;333;318;318;80	ENSP00000381870:G38A;ENSP00000381872:G270A;ENSP00000395260:G333A;ENSP00000400090:G323A;ENSP00000381867:G270A;ENSP00000381863:G232A;ENSP00000401197:G333A;ENSP00000303503:G318A	ENSP00000303503:G318A	G	-	2	0	USP19	49129292	0.254000	0.23992	0.998000	0.56505	0.797000	0.45037	0.380000	0.20602	0.387000	0.25024	0.650000	0.86243	GGA		0.552	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		6	42	0	0	0	1	0	6	42				
ITPKB	3707	broad.mit.edu	37	1	226923851	226923851	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:226923851A>T	ENST00000272117.3	-	1	1308	c.1309T>A	c.(1309-1311)Tgg>Agg	p.W437R	ITPKB_ENST00000366784.1_Missense_Mutation_p.W437R|ITPKB_ENST00000429204.1_Missense_Mutation_p.W437R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	437					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GAGAGCTGCCAACGCCCCCCG	0.706																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(1309-1311)Tgg>Agg		inositol-trisphosphate 3-kinase B							16.0	20.0	18.0					1																	226923851		2138	4260	6398	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923851A>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1309T>A	1.37:g.226923851A>T	ENSP00000272117:p.Trp437Arg					ITPKB_ENST00000366784.1_Missense_Mutation_p.W437R|ITPKB_ENST00000272117.3_Missense_Mutation_p.W437R	p.W437R	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	1636	-		Prostate(94;0.0773)	437					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1309T>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	A	1.823	-0.471762	0.04445	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.20738	2.06;2.06;2.05	4.73	1.55	0.23275	.	1.710450	0.03016	N	0.150041	T	0.10594	0.0259	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24297	-1.0164	10	0.07482	T	0.82	1.1582	2.4498	0.04515	0.1029:0.159:0.4786:0.2596	.	437	P27987	IP3KB_HUMAN	R	437	ENSP00000272117:W437R;ENSP00000411152:W437R;ENSP00000355748:W437R	ENSP00000272117:W437R	W	-	1	0	ITPKB	224990474	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	0.425000	0.21346	0.678000	0.31325	-0.415000	0.06103	TGG		0.706	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		5	46	0	0	0	1	0	5	46				
NRXN1	9378	broad.mit.edu	37	2	51254756	51254756	+	Missense_Mutation	SNP	G	G	A	rs546508545		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:51254756G>A	ENST00000406316.2	-	2	2132	c.656C>T	c.(655-657)gCg>gTg	p.A219V	NRXN1_ENST00000405581.1_Missense_Mutation_p.A219V|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219V|NRXN1_ENST00000401669.2_Missense_Mutation_p.A219V|NRXN1_ENST00000402717.3_Missense_Mutation_p.A219V|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219V|NRXN1_ENST00000404971.1_Missense_Mutation_p.A219V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	219	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCCTCGCCCGCCTCGCACGG	0.716																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(655-657)gCg>gTg		neurexin 1							11.0	16.0	14.0					2																	51254756		2075	4153	6228	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254756G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.656C>T	2.37:g.51254756G>A	ENSP00000384311:p.Ala219Val					NRXN1_ENST00000406316.2_Missense_Mutation_p.A219V|NRXN1_ENST00000402717.3_Missense_Mutation_p.A219V|NRXN1_ENST00000401669.2_Missense_Mutation_p.A219V|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219V|NRXN1_ENST00000405581.1_Missense_Mutation_p.A219V|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219V	p.A219V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1995	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	219			EGF-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.656C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881260	0.33255	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.70631	0.16;0.2;-0.5;-0.38;-0.1;0.07;3.42	5.5	2.25	0.28309	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.53738	0.1815	L	0.38175	1.15	0.30653	N	0.755187	B;B;B	0.19073	0.0;0.026;0.033	B;B;B	0.16722	0.001;0.016;0.001	T	0.48980	-0.8986	9	0.29301	T	0.29	.	2.7281	0.05219	0.1045:0.2055:0.5098:0.1801	.	219;219;219	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	V	219	ENSP00000385142:A219V;ENSP00000384311:A219V;ENSP00000434015:A219V;ENSP00000385017:A219V;ENSP00000385434:A219V;ENSP00000385681:A219V;ENSP00000385310:A219V	ENSP00000385017:A219V	A	-	2	0	NRXN1	51108260	0.841000	0.29509	1.000000	0.80357	0.960000	0.62799	0.812000	0.27211	1.268000	0.44264	0.563000	0.77884	GCG		0.716	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	15	0	0	0	1	0	5	15				
SERPINB8	5271	broad.mit.edu	37	18	61654204	61654204	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr18:61654204C>T	ENST00000397985.2	+	7	1073	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Silent_p.L273L|SERPINB8_ENST00000542677.1_Silent_p.L91L	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	273					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAGATTAAAGCTGGAGGAGAG	0.398																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(817-819)Ctg>Ttg		serpin peptidase inhibitor, clade B (ovalbumin), member 8							97.0	99.0	98.0					18																	61654204		2203	4300	6503	SO:0001819	synonymous_variant	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654204C>T	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.817C>T	18.37:g.61654204C>T						SERPINB8_ENST00000542677.1_Silent_p.L91L|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Silent_p.L273L	p.L273L	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			7	1073	+		Esophageal squamous(42;0.129)	273					B4DTW2|Q7Z2V6|Q8N178	Silent	SNP	ENST00000397985.2	37	c.817C>T	CCDS11991.1																																																																																				0.398	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		19	53	0	0	0	1	0	19	53				
LRRC24	441381	broad.mit.edu	37	8	145749618	145749618	+	Silent	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:145749618C>G	ENST00000529415.2	-	4	600	c.483G>C	c.(481-483)ctG>ctC	p.L161L	LRRC14_ENST00000528528.1_Intron|LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.L158L			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	161						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGGTCCTCCAGCAGCTCAA	0.617																																						ENST00000529415.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(481-483)ctG>ctC		leucine rich repeat containing 24							58.0	63.0	61.0					8																	145749618		2202	4299	6501	SO:0001819	synonymous_variant	441381					integral to membrane		g.chr8:145749618C>G	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.483G>C	8.37:g.145749618C>G						LRRC14_ENST00000528528.1_Intron|LRRC24_ENST00000533758.1_Silent_p.L158L|LRRC14_ENST00000292524.1_3'UTR	p.L161L			Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	600	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		161						Silent	SNP	ENST00000529415.2	37	c.483G>C	CCDS34969.1																																																																																				0.617	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		11	173	0	0	0	1	0	11	173				
AKAP6	9472	broad.mit.edu	37	14	33292748	33292748	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:33292748C>T	ENST00000280979.4	+	13	5899	c.5729C>T	c.(5728-5730)cCg>cTg	p.P1910L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1910					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGGGAAAACCGAATGTGACT	0.343																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5728-5730)cCg>cTg		A kinase (PRKA) anchor protein 6							63.0	64.0	64.0					14																	33292748		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292748C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5729C>T	14.37:g.33292748C>T	ENSP00000280979:p.Pro1910Leu					AKAP6_ENST00000557272.1_Intron	p.P1910L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5899	+	Breast(36;0.0388)|Prostate(35;0.15)		1910					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5729C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.602261	0.00123	.	.	ENSG00000151320	ENST00000280979	T	0.04317	3.65	5.63	-1.74	0.08056	.	0.992465	0.08185	N	0.984855	T	0.02533	0.0077	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47861	-0.9084	10	0.26408	T	0.33	3.6211	2.4538	0.04524	0.1175:0.2847:0.1119:0.4859	.	1910	Q13023	AKAP6_HUMAN	L	1910	ENSP00000280979:P1910L	ENSP00000280979:P1910L	P	+	2	0	AKAP6	32362499	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.063000	0.14410	-0.174000	0.10743	-0.295000	0.09555	CCG		0.343	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		7	26	0	0	0	1	0	7	26				
MT-ND1	4535	broad.mit.edu	37	M	3946	3946	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrM:3946G>A	ENST00000361390.2	+	1	640	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	MT-TA_ENST00000387392.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	214					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTCAACATCGAATACGCCG	0.473																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(640-642)Gaa>Aaa		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3946G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.640G>A	M.37:g.3946G>A	ENSP00000354687:p.Glu214Lys						p.214_214insK							1	640	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.640G>A																																																																																					0.473	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		18	237	0	0	0	1	0	18	237				
RASGEF1B	153020	broad.mit.edu	37	4	82348927	82348927	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:82348927C>G	ENST00000264400.2	-	14	1568	c.1417G>C	c.(1417-1419)Gtt>Ctt	p.V473L	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V431L|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.V472L	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	473					positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ATGTGTTAAACTCTGCCTAAG	0.468																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(1414-1416)Gtt>Ctt		RasGEF domain family, member 1B							92.0	86.0	88.0					4																	82348927		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82348927C>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1417G>C	4.37:g.82348927C>G	ENSP00000264400:p.Val473Leu					RASGEF1B_ENST00000264400.2_Missense_Mutation_p.V473L|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V431L	p.V472L			Q0VAM2	RGF1B_HUMAN			14	1635	-			473					Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.1414G>C	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033712	0.19590	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.76709	-0.62;-0.62;-1.04	4.83	3.97	0.46021	.	0.423635	0.25756	N	0.028504	T	0.58148	0.2102	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.59080	-0.7521	10	0.66056	D	0.02	.	10.5909	0.45308	0.0:0.906:0.0:0.094	.	431;472;473	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	L	472;473;431	ENSP00000425393:V472L;ENSP00000264400:V473L;ENSP00000338437:V431L	ENSP00000264400:V473L	V	-	1	0	RASGEF1B	82567951	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	2.924000	0.48876	2.665000	0.90641	0.585000	0.79938	GTT		0.468	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		5	21	0	0	0	1	0	5	21				
GRM4	2914	broad.mit.edu	37	6	34003773	34003773	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:34003773C>T	ENST00000538487.2	-	9	2557	c.2114G>A	c.(2113-2115)aGc>aAc	p.S705N	GRM4_ENST00000544773.2_Missense_Mutation_p.S536N|GRM4_ENST00000374177.3_Missense_Mutation_p.S589N|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.S705N|GRM4_ENST00000455714.2_Missense_Mutation_p.S565N|GRM4_ENST00000535756.1_Missense_Mutation_p.S572N|GRM4_ENST00000609222.1_Missense_Mutation_p.S572N	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	705					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGAGATGAGGCTGAAGGTGAT	0.637																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2113-2115)aGc>aAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						92.0	101.0	98.0					6																	34003773		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003773C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2114G>A	6.37:g.34003773C>T	ENSP00000440556:p.Ser705Asn					GRM4_ENST00000545715.1_Missense_Mutation_p.S397N|GRM4_ENST00000538487.1_Missense_Mutation_p.S705N|GRM4_ENST00000544773.1_Missense_Mutation_p.S536N|GRM4_ENST00000535756.1_Missense_Mutation_p.S572N|GRM4_ENST00000455714.2_Missense_Mutation_p.S565N|GRM4_ENST00000374177.3_Missense_Mutation_p.S589N	p.S705N	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2283	-			705					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2114G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156267	0.38021	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.63	3.73	0.42828	GPCR, family 3, C-terminal (2);	0.169634	0.64402	D	0.000006	D	0.89234	0.6657	M	0.75264	2.295	0.36251	D	0.853921	P;P;P;P;P	0.48294	0.908;0.841;0.873;0.801;0.908	P;P;B;B;P	0.55161	0.482;0.601;0.439;0.258;0.77	D	0.88083	0.2808	10	0.33940	T	0.23	.	13.7037	0.62624	0.1604:0.8396:0.0:0.0	.	658;536;565;705;572	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	N	705;589;397;572;536;705;565	ENSP00000363296:S705N;ENSP00000363292:S589N;ENSP00000445533:S397N;ENSP00000437925:S572N;ENSP00000437730:S536N;ENSP00000440556:S705N;ENSP00000398456:S565N	ENSP00000363292:S589N	S	-	2	0	GRM4	34111751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.211000	0.32382	1.096000	0.41439	0.462000	0.41574	AGC		0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			21	120	0	0	0	1	0	21	120				
SYNE1	23345	broad.mit.edu	37	6	152749391	152749391	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:152749391C>G	ENST00000367255.5	-	37	5526	c.4925G>C	c.(4924-4926)aGg>aCg	p.R1642T	SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1642					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTTCGCCCTCCTTAGGAT	0.532										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4924-4926)aGg>aCg		spectrin repeat containing, nuclear envelope 1							194.0	198.0	196.0					6																	152749391		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749391C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4925G>C	6.37:g.152749391C>G	ENSP00000356224:p.Arg1642Thr	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649T	p.R1642T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5526	-		Ovarian(120;0.0955)	1642					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4925G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	9.215	1.032029	0.19590	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.87	-11.7	0.00046	.	1.048510	0.07479	N	0.903606	T	0.04724	0.0128	N	0.02011	-0.69	0.09310	N	0.999998	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.001;0.004;0.001;0.002	T	0.34104	-0.9842	10	0.14252	T	0.57	.	13.5599	0.61782	0.0625:0.1615:0.066:0.71	.	1625;1642;1642;1642;1649	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	1642;1649;1642;1649;1712;1642	ENSP00000356224:R1642T;ENSP00000396024:R1649T;ENSP00000265368:R1642T;ENSP00000390975:R1649T;ENSP00000341887:R1712T;ENSP00000356222:R1642T	ENSP00000265368:R1642T	R	-	2	0	SYNE1	152791084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-3.066000	0.00255	-0.782000	0.03352	AGG		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		40	196	0	0	0	1	0	40	196				
ARID1A	8289	broad.mit.edu	37	1	27106465	27106465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:27106465C>T	ENST00000324856.7	+	20	6447	c.6076C>T	c.(6076-6078)Cag>Tag	p.Q2026*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q354*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1643*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1809*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2026					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q2026*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAACGGAAGCAGGCACCACT	0.542			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.Q2026*(1)	pancreas(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6076-6078)Cag>Tag		AT rich interactive domain 1A (SWI-like)							127.0	117.0	120.0					1																	27106465		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106465C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6076C>T	1.37:g.27106465C>T	ENSP00000320485:p.Gln2026*					ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1643*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q354*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1809*	p.Q2026*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6447	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2026					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.6076C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.604852|10.604852	0.99436|0.99436	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.70245|.	0.3202|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64428|.	-0.6410|.	4|.	.|0.26408	.|T	.|0.33	-6.1936|-6.1936	18.8481|18.8481	0.92215|0.92215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	922|2026;1809;1643;354	.|.	.|ENSP00000320485:Q2026X	A|Q	+|+	2|1	0|0	ARID1A|ARID1A	26979052|26979052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.464000|7.464000	0.80887|0.80887	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	GCA|CAG		0.542	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		47	48	0	0	0	1	0	47	48				
TPH2	121278	broad.mit.edu	37	12	72338371	72338371	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:72338371G>C	ENST00000333850.3	+	4	586	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	149					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AACAGAGCTAGAGGATGTGCC	0.433																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(445-447)Gag>Cag		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						147.0	146.0	146.0					12																	72338371		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72338371G>C	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.445G>C	12.37:g.72338371G>C	ENSP00000329093:p.Glu149Gln					TPH2_ENST00000546576.1_3'UTR	p.E149Q	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			4	586	+			149					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.445G>C	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930696	0.52866	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99494	-6.01	5.73	4.84	0.62591	Aromatic amino acid hydroxylase, C-terminal (1);	0.667428	0.15487	N	0.259765	D	0.98695	0.9562	M	0.74389	2.26	0.43555	D	0.995864	B	0.29481	0.245	B	0.24974	0.057	D	0.99918	1.1239	10	0.39692	T	0.17	-19.7069	16.908	0.86133	0.0:0.128:0.872:0.0	.	149	Q8IWU9	TPH2_HUMAN	Q	149	ENSP00000329093:E149Q	ENSP00000266669:E149Q	E	+	1	0	TPH2	70624638	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	6.356000	0.73046	1.433000	0.47394	-0.156000	0.13503	GAG		0.433	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		20	76	0	0	0	1	0	20	76				
SPATA31D1	389763	broad.mit.edu	37	9	84608177	84608177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:84608177C>A	ENST00000344803.2	+	4	2839	c.2792C>A	c.(2791-2793)tCg>tAg	p.S931*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	931					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATCTTCAAATCGAAAGCGGAC	0.468																																						ENST00000344803.2																			0											c.(2791-2793)tCg>tAg		SPATA31 subfamily D, member 1							59.0	55.0	57.0					9																	84608177		1870	4102	5972	SO:0001587	stop_gained	389763							g.chr9:84608177C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2792C>A	9.37:g.84608177C>A	ENSP00000341988:p.Ser931*						p.S931*	NM_001001670.2	NP_001001670.1					4	2839	+									Nonsense_Mutation	SNP	ENST00000344803.2	37	c.2792C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104905	0.94245	.	.	ENSG00000214929	ENST00000344803	.	.	.	3.21	-3.43	0.04810	.	2.757310	0.02226	N	0.064418	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	4.4458	3.7818	0.08683	0.1938:0.4509:0.0:0.3553	.	.	.	.	X	931	.	ENSP00000341988:S931X	S	+	2	0	FAM75D1	83797997	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.909000	0.04058	-0.744000	0.04778	-0.312000	0.09012	TCG		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	30	1	0	0.00448238	1	0.00462697	8	30				
SLC16A5	9121	broad.mit.edu	37	17	73096694	73096694	+	Silent	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096694C>G	ENST00000450736.2	+	4	1351	c.936C>G	c.(934-936)ctC>ctG	p.L312L	SLC16A5_ENST00000580123.1_Silent_p.L312L|SLC16A5_ENST00000538213.2_Silent_p.L352L|SLC16A5_ENST00000329783.4_Silent_p.L312L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	312					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCTGGCACTCCTGCTCAATG	0.612																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(934-936)ctC>ctG		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						624.0	544.0	571.0					17																	73096694		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096694C>G	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.936C>G	17.37:g.73096694C>G						SLC16A5_ENST00000538213.2_Silent_p.L352L|SLC16A5_ENST00000580123.1_Silent_p.L312L|SLC16A5_ENST00000329783.4_Silent_p.L312L	p.L312L			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1351	+	all_lung(278;0.226)		312					B4E288	Silent	SNP	ENST00000450736.2	37	c.936C>G	CCDS11713.1																																																																																				0.612	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		26	113	0	0	0	1	0	26	113				
CD74	972	broad.mit.edu	37	5	149782827	149782827	+	Missense_Mutation	SNP	G	G	A	rs529228293		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:149782827G>A	ENST00000009530.7	-	7	675	c.674C>T	c.(673-675)cCg>cTg	p.P225L	CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Intron|CD74_ENST00000377795.3_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	225	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATGAACCCGGGTGGACAGC	0.577			T	ROS1	NSCLC								G|||	1	0.000199681	0.0	0.0014	5008	,	,		22855	0.0		0.0	False		,,,				2504	0.0					ENST00000009530.7				Dom	yes		5	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(673-675)cCg>cTg		CD74 molecule, major histocompatibility complex, class II invariant chain							191.0	201.0	198.0					5																	149782827		2166	4266	6432	SO:0001583	missense	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149782827G>A		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.674C>T	5.37:g.149782827G>A	ENSP00000009530:p.Pro225Leu					CD74_ENST00000353334.6_Intron|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron	p.P225L			P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	675	-		all_hematologic(541;0.224)	225			Thyroglobulin type-1.		A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	ENST00000009530.7	37	c.674C>T	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590124	0.46214	.	.	ENSG00000019582	ENST00000009530	T	0.63096	-0.02	5.61	5.61	0.85477	Thyroglobulin type-1 (4);	0.166500	0.53938	D	0.000047	T	0.69931	0.3166	L	0.41027	1.25	0.58432	D	0.999994	D	0.89917	1.0	D	0.73708	0.981	T	0.61744	-0.7000	10	0.09338	T	0.73	-33.7409	18.4007	0.90515	0.0:0.0:1.0:0.0	.	225	P04233	HG2A_HUMAN	L	225	ENSP00000009530:P225L	ENSP00000009530:P225L	P	-	2	0	CD74	149763020	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	4.459000	0.60102	2.626000	0.88956	0.561000	0.74099	CCG		0.577	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		22	180	0	0	0	1	0	22	180				
MAP3K5	4217	broad.mit.edu	37	6	136879965	136879965	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:136879965C>T	ENST00000359015.4	-	29	4397	c.4037G>A	c.(4036-4038)cGt>cAt	p.R1346H	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R593H	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1346					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAAGTCATCACGTGTAACATA	0.333																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(4036-4038)cGt>cAt		mitogen-activated protein kinase kinase kinase 5							119.0	123.0	122.0					6																	136879965		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136879965C>T	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.4037G>A	6.37:g.136879965C>T	ENSP00000351908:p.Arg1346His					MAP3K5_ENST00000355845.4_Missense_Mutation_p.R593H	p.R1346H	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	29	4397	-	Colorectal(23;0.24)		1346					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.4037G>A	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130325	0.94473	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	D;D	0.87966	-2.32;-2.32	5.35	5.35	0.76521	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	M	0.81497	2.545	0.58432	D	0.999998	D	0.76494	0.999	D	0.76071	0.987	D	0.93742	0.7051	10	0.87932	D	0	.	19.0643	0.93104	0.0:1.0:0.0:0.0	.	1346	Q99683	M3K5_HUMAN	H	1346;593	ENSP00000351908:R1346H;ENSP00000348104:R593H	ENSP00000348104:R593H	R	-	2	0	MAP3K5	136921658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.989000	0.70587	2.523000	0.85059	0.655000	0.94253	CGT		0.333	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			18	42	0	0	0	1	0	18	42				
MT-ND5	4540	broad.mit.edu	37	M	13399	13399	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrM:13399G>A	ENST00000361567.2	+	1	1063	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	MT-TR_ENST00000387439.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	355					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ACAATGAACAAGATATTCGAA	0.453																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1063-1065)Gat>Aat		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13399G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1063G>A	M.37:g.13399G>A	ENSP00000354813:p.Asp355Asn						p.D355N			P03915	NU5M_HUMAN			1	1063	+			355					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1063G>A																																																																																					0.453	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		134	85	0	0	0	1	0	134	85				
HMGCS2	3158	broad.mit.edu	37	1	120302610	120302610	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:120302610G>A	ENST00000369406.3	-	3	611	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	188					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ATGGCATAACGACCTGTAAAG	0.488																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(562-564)Cgt>Tgt		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							43.0	43.0	43.0					1																	120302610		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120302610G>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.562C>T	1.37:g.120302610G>A	ENSP00000358414:p.Arg188Cys					HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	p.R188C	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	3	611	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	188					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.562C>T	CCDS905.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564231	0.86335	.	.	ENSG00000134240	ENST00000369406	D	0.92199	-2.99	5.25	5.25	0.73442	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000005	D	0.97892	0.9307	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99675	1.0997	10	0.87932	D	0	-7.8982	17.4109	0.87485	0.0:0.0:1.0:0.0	.	188	P54868	HMCS2_HUMAN	C	188	ENSP00000358414:R188C	ENSP00000358414:R188C	R	-	1	0	HMGCS2	120104133	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.413000	0.97351	2.453000	0.82957	0.400000	0.26472	CGT		0.488	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		4	24	0	0	0	1	0	4	24				
XKR4	114786	broad.mit.edu	37	8	56435862	56435862	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:56435862C>T	ENST00000327381.6	+	3	1129	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	343						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTTCCCTCGTGTCCCTGG	0.572																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1027-1029)ctC>ctT		XK, Kell blood group complex subunit-related family, member 4							50.0	48.0	49.0					8																	56435862		2203	4300	6503	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56435862C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1029C>T	8.37:g.56435862C>T							p.L343L	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1129	+			343					Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.1029C>T	CCDS34893.1																																																																																				0.572	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		35	10	0	0	0	1	0	35	10				
PREX1	57580	broad.mit.edu	37	20	47269915	47269915	+	Missense_Mutation	SNP	C	C	T	rs368578845		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:47269915C>T	ENST00000371941.3	-	20	2352	c.2330G>A	c.(2329-2331)cGg>cAg	p.R777Q	PREX1_ENST00000396220.1_Missense_Mutation_p.R777Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	777					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCTTCGCGCCGACTCCGGAA	0.582																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2329-2331)cGg>cAg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							82.0	84.0	83.0					20																	47269915		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47269915C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2330G>A	20.37:g.47269915C>T	ENSP00000361009:p.Arg777Gln					PREX1_ENST00000371941.3_Missense_Mutation_p.R777Q	p.R777Q			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		20	2352	-			777					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2330G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706348	0.30232	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.37235	1.21;1.21	5.12	-1.54	0.08584	PDZ/DHR/GLGF (1);	1.252740	0.06178	U	0.678964	T	0.23572	0.0570	N	0.20986	0.625	0.09310	N	1	B;P	0.37573	0.342;0.6	B;B	0.30495	0.044;0.116	T	0.30208	-0.9986	10	0.66056	D	0.02	.	11.3484	0.49573	0.0:0.5968:0.0:0.4032	.	777;74	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	777	ENSP00000361009:R777Q;ENSP00000379522:R777Q	ENSP00000361009:R777Q	R	-	2	0	PREX1	46703322	0.000000	0.05858	0.007000	0.13788	0.266000	0.26442	-0.941000	0.03925	-0.288000	0.09051	0.462000	0.41574	CGG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		65	118	0	0	0	1	0	65	118				
USPL1	10208	broad.mit.edu	37	13	31233271	31233271	+	Silent	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr13:31233271T>C	ENST00000255304.4	+	9	3399	c.3057T>C	c.(3055-3057)caT>caC	p.H1019H		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1019					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGAACACACATCTGAGACAGG	0.418																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(3055-3057)caT>caC		ubiquitin specific peptidase like 1							116.0	112.0	114.0					13																	31233271		2203	4300	6503	SO:0001819	synonymous_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31233271T>C	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.3057T>C	13.37:g.31233271T>C							p.H1019H	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	3399	+		Lung SC(185;0.0257)|Breast(139;0.203)	1019					Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	c.3057T>C	CCDS9336.1																																																																																				0.418	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		14	80	0	0	0	1	0	14	80				
SLC16A5	9121	broad.mit.edu	37	17	73096220	73096220	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096220C>T	ENST00000450736.2	+	4	877	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLC16A5_ENST00000580123.1_Silent_p.L154L|SLC16A5_ENST00000538213.2_Silent_p.L194L|SLC16A5_ENST00000329783.4_Silent_p.L154L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	154					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCATCACCCTCTGGCCGCTGC	0.647																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(460-462)ctC>ctT		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						43.0	42.0	42.0					17																	73096220		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096220C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.462C>T	17.37:g.73096220C>T						SLC16A5_ENST00000538213.2_Silent_p.L194L|SLC16A5_ENST00000580123.1_Silent_p.L154L|SLC16A5_ENST00000329783.4_Silent_p.L154L	p.L154L			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	877	+	all_lung(278;0.226)		154					B4E288	Silent	SNP	ENST00000450736.2	37	c.462C>T	CCDS11713.1																																																																																				0.647	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		13	45	0	0	0	1	0	13	45				
MT-CO1	4512	broad.mit.edu	37	M	6322	6322	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrM:6322G>A	ENST00000361624.2	+	1	419	c.419G>A	c.(418-420)gGa>gAa	p.G140E	MT-ATP6_ENST00000361899.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	140					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CTCCCACCCTGGAGCCTCCGT	0.502																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(418-420)gGa>gAa		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6322G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.419G>A	M.37:g.6322G>A	ENSP00000354499:p.Gly140Glu						p.140_140insE							1	419	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.419G>A																																																																																					0.502	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		61	186	0	0	0	1	0	61	186				
LRRC7	57554	broad.mit.edu	37	1	70291497	70291497	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:70291497A>T	ENST00000035383.5	+	3	404	c.374A>T	c.(373-375)aAt>aTt	p.N125I	LRRC7_ENST00000310961.5_Missense_Mutation_p.N130I|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.N163I	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	125						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCAGTGTCAATCCCATTTCT	0.269																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(388-390)aAt>aTt		leucine rich repeat containing 7							79.0	77.0	78.0					1																	70291497		2203	4282	6485	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70291497A>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.374A>T	1.37:g.70291497A>T	ENSP00000035383:p.Asn125Ile					LRRC7_ENST00000035383.5_Missense_Mutation_p.N125I|LRRC7_ENST00000370958.1_Missense_Mutation_p.N163I|LRRC7_ENST00000415775.2_5'UTR	p.N130I			Q96NW7	LRRC7_HUMAN			6	807	+			125					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.389A>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243480	0.79912	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.67865	1.18;-0.29;1.23	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90065	0.4159	10	0.87932	D	0	.	14.6159	0.68547	1.0:0.0:0.0:0.0	.	125;163	Q96NW7;B1AKT2	LRRC7_HUMAN;.	I	130;163;125;125	ENSP00000309245:N130I;ENSP00000359997:N163I;ENSP00000035383:N125I	ENSP00000035383:N125I	N	+	2	0	LRRC7	70064085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.423000	0.90264	2.114000	0.64651	0.533000	0.62120	AAT		0.269	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		4	12	0	0	0	1	0	4	12				
ERMARD	55780	broad.mit.edu	37	6	170181480	170181480	+	Silent	SNP	C	C	T	rs151319719	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:170181480C>T	ENST00000366773.3	+	18	1941	c.1908C>T	c.(1906-1908)taC>taT	p.Y636Y	ERMARD_ENST00000418781.3_Silent_p.Y563Y|ERMARD_ENST00000366772.2_Silent_p.Y589Y|ERMARD_ENST00000392095.4_Silent_p.Y510Y|ERMARD_ENST00000588451.1_Silent_p.Y500Y	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	636					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ACACCAGTTACGAAAAGAACA	0.323																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(1498-1500)taC>taT				C		0,4406		0,0,2203	96.0	86.0	89.0		1908	-5.2	0.0	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C6orf70	NM_018341.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		636/679	170181480	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr6:170181480C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1908C>T	6.37:g.170181480C>T						C6orf70_ENST00000366772.2_Silent_p.Y589Y|C6orf70_ENST00000418781.3_Silent_p.Y563Y|C6orf70_ENST00000366773.3_Silent_p.Y636Y|C6orf70_ENST00000392095.4_Silent_p.Y510Y	p.Y500Y			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	17	2013	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	636					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.1500C>T	CCDS34576.1																																																																																				0.323	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		8	19	0	0	0	1	0	8	19				
CCSAP	126731	broad.mit.edu	37	1	229461116	229461116	+	Missense_Mutation	SNP	C	C	T	rs559873142		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:229461116C>T	ENST00000366687.1	-	3	730	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	CCSAP_ENST00000284617.2_Missense_Mutation_p.E227K|RP4-803J11.2_ENST00000418348.1_RNA|CCSAP_ENST00000366686.1_Missense_Mutation_p.E113K|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	227					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											TTCCTTTTTTCCACCTGTCTT	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20693	0.0		0.0	False		,,,				2504	0.0					ENST00000284617.2																			0											c.(679-681)Gaa>Aaa		centriole, cilia and spindle-associated protein							145.0	129.0	135.0					1																	229461116		2203	4300	6503	SO:0001583	missense	126731							g.chr1:229461116C>T	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.679G>A	1.37:g.229461116C>T	ENSP00000355648:p.Glu227Lys					CCSAP_ENST00000366686.1_Missense_Mutation_p.E113K|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.E227K	p.E227K	NM_145257.3	NP_660300.3					4	803	-								A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	ENST00000366687.1	37	c.679G>A	CCDS1577.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554368	0.86231	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.50548	0.74;0.74;0.75	5.4	5.4	0.78164	.	0.050957	0.85682	D	0.000000	T	0.66416	0.2787	L	0.58669	1.825	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.68153	-0.5484	10	0.87932	D	0	-12.3043	17.7218	0.88353	0.0:1.0:0.0:0.0	.	227	Q6IQ19	CA096_HUMAN	K	227;227;113	ENSP00000355648:E227K;ENSP00000284617:E227K;ENSP00000355647:E113K	ENSP00000284617:E227K	E	-	1	0	C1orf96	227527739	1.000000	0.71417	0.994000	0.49952	0.474000	0.32979	5.905000	0.69893	2.683000	0.91414	0.650000	0.86243	GAA		0.423	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		16	33	0	0	0	1	0	16	33				
PARP2	10038	broad.mit.edu	37	14	20818779	20818779	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:20818779G>A	ENST00000250416.5	+	5	485	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	PARP2_ENST00000429687.3_Missense_Mutation_p.R140Q|PARP2_ENST00000527915.1_Missense_Mutation_p.R153Q	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	153					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATGGGGCCGAGGTAATGAT	0.413								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(457-459)cGa>cAa	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							131.0	119.0	122.0					14																	20818779		1866	4104	5970	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20818779G>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.458G>A	14.37:g.20818779G>A	ENSP00000250416:p.Arg153Gln					PARP2_ENST00000250416.5_Missense_Mutation_p.R153Q|PARP2_ENST00000429687.3_Missense_Mutation_p.R140Q	p.R153Q			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	5	463	+	all_cancers(95;0.00092)	all_lung(585;0.235)	153					Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.458G>A	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396444	0.96009	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.48522	0.81;0.81;0.81	5.25	5.25	0.73442	WGR domain (4);	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	H	0.96943	3.91	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86203	0.1620	10	0.66056	D	0.02	-9.9197	17.7773	0.88513	0.0:0.0:1.0:0.0	.	140;153	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	Q	140;153;153	ENSP00000392972:R140Q;ENSP00000250416:R153Q;ENSP00000432283:R153Q	ENSP00000250416:R153Q	R	+	2	0	PARP2	19888619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.134000	0.89606	2.738000	0.93877	0.655000	0.94253	CGA		0.413	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			8	52	0	0	0	1	0	8	52				
OBSCN	84033	broad.mit.edu	37	1	228481947	228481947	+	Silent	SNP	G	G	A	rs368849874		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:228481947G>A	ENST00000422127.1	+	42	11270	c.11226G>A	c.(11224-11226)ccG>ccA	p.P3742P	OBSCN_ENST00000284548.11_Silent_p.P3742P|OBSCN_ENST00000359599.6_Silent_p.P2589P|OBSCN_ENST00000366709.4_Silent_p.P861P|OBSCN_ENST00000570156.2_Silent_p.P4171P|OBSCN_ENST00000366707.4_Silent_p.P861P|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3742	Ig-like 38.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCGGCACCGGTGGAGTGGA	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21085	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12511-12513)ccG>ccA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	,	3,4263		0,3,2130	145.0	151.0	149.0		11226,11226	-3.1	0.9	1		149	0,8462		0,0,4231	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,3,6361	AA,AG,GG		0.0,0.0703,0.0236	,	3742/7969,3742/6621	228481947	3,12725	2133	4231	6364	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481947G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11226G>A	1.37:g.228481947G>A						OBSCN_ENST00000422127.1_Silent_p.P3742P|OBSCN_ENST00000366709.4_Silent_p.P861P|OBSCN_ENST00000284548.11_Silent_p.P3742P|OBSCN_ENST00000359599.6_Silent_p.P2589P|OBSCN_ENST00000366707.4_Silent_p.P861P	p.P4171P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			47	12587	+		Prostate(94;0.0405)	3214			Ig-like 43.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.12513G>A	CCDS58065.1																																																																																				0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		38	152	0	0	0	1	0	38	152				
MYH2	4620	broad.mit.edu	37	17	10432392	10432392	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:10432392C>T	ENST00000245503.5	-	27	3743	c.3359G>A	c.(3358-3360)cGc>cAc	p.R1120H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1120H|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1120					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCAATGCGGGCCTGGGA	0.532																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3358-3360)cGc>cAc		myosin, heavy chain 2, skeletal muscle, adult							41.0	46.0	44.0					17																	10432392		2202	4300	6502	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432392C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3359G>A	17.37:g.10432392C>T	ENSP00000245503:p.Arg1120His					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1120H|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	p.R1120H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3743	-			1120					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3359G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601167	0.87055	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83837	-1.77;-1.77	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.40144	U	0.001168	D	0.91868	0.7426	M	0.86268	2.805	0.80722	D	1	D	0.65815	0.995	D	0.68353	0.957	D	0.92799	0.6255	10	0.72032	D	0.01	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1120	Q9UKX2	MYH2_HUMAN	H	1120	ENSP00000245503:R1120H;ENSP00000380367:R1120H	ENSP00000245503:R1120H	R	-	2	0	MYH2	10373117	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.650000	0.67944	2.660000	0.90430	0.591000	0.81541	CGC		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		35	19	0	0	0	1	0	35	19				
LRP1	4035	broad.mit.edu	37	12	57581077	57581077	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:57581077A>G	ENST00000243077.3	+	42	7335	c.6869A>G	c.(6868-6870)tAt>tGt	p.Y2290C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2290					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCTGGCCTATCACCGTGGC	0.637																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6868-6870)tAt>tGt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						81.0	75.0	77.0					12																	57581077		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581077A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6869A>G	12.37:g.57581077A>G	ENSP00000243077:p.Tyr2290Cys						p.Y2290C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	42	7335	+			2290					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6869A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.938311	0.52972	.	.	ENSG00000123384	ENST00000243077	D	0.91407	-2.84	4.59	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000010	D	0.94902	0.8352	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95349	0.8445	10	0.72032	D	0.01	.	13.094	0.59180	1.0:0.0:0.0:0.0	.	2290	Q07954	LRP1_HUMAN	C	2290	ENSP00000243077:Y2290C	ENSP00000243077:Y2290C	Y	+	2	0	LRP1	55867344	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.106000	0.94253	1.933000	0.56026	0.533000	0.62120	TAT		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		26	42	0	0	0	1	0	26	42				
ALG1	56052	broad.mit.edu	37	16	5122951	5122951	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:5122951G>T	ENST00000262374.5	+	2	239		c.e2-1		ALG1_ENST00000544428.1_Splice_Site|ALG1_ENST00000588623.1_Splice_Site	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCATTTTTCAGACTCCAAACC	0.438																																						ENST00000588623.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.e3-1		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							129.0	134.0	132.0					16																	5122951		2197	4300	6497	SO:0001630	splice_region_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5122951G>T	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.209-1G>T	16.37:g.5122951G>T						ALG1_ENST00000544428.1_Splice_Site|ALG1_ENST00000262374.5_Splice_Site				Q9BT22	ALG1_HUMAN			3	975	+		Ovarian(90;0.0164)						B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Splice_Site	SNP	ENST00000262374.5	37		CCDS10528.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768398	0.69878	.	.	ENSG00000033011	ENST00000262374	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0356	0.80625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALG1	5062952	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.878000	0.75567	2.428000	0.82296	0.561000	0.74099	.		0.438	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109	Intron	6	75	1	0	0.00198382	1	0.00206446	6	75				
SLC16A5	9121	broad.mit.edu	37	17	73096839	73096839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096839C>T	ENST00000450736.2	+	4	1496	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	SLC16A5_ENST00000580123.1_Nonsense_Mutation_p.Q361*|SLC16A5_ENST00000538213.2_Nonsense_Mutation_p.Q401*|SLC16A5_ENST00000329783.4_Nonsense_Mutation_p.Q361*			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	361					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCCCATGGATCAGTTCCCCAG	0.627																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1081-1083)Cag>Tag		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						124.0	105.0	111.0					17																	73096839		2203	4300	6503	SO:0001587	stop_gained	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096839C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1081C>T	17.37:g.73096839C>T	ENSP00000390564:p.Gln361*					SLC16A5_ENST00000538213.2_Nonsense_Mutation_p.Q401*|SLC16A5_ENST00000580123.1_Nonsense_Mutation_p.Q361*|SLC16A5_ENST00000329783.4_Nonsense_Mutation_p.Q361*	p.Q361*			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1496	+	all_lung(278;0.226)		361					B4E288	Nonsense_Mutation	SNP	ENST00000450736.2	37	c.1081C>T	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385002	0.82792	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	.	.	.	4.63	3.58	0.41010	.	0.109306	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	13.5292	0.61613	0.2536:0.7464:0.0:0.0	.	.	.	.	X	361;361;401	.	ENSP00000330141:Q361X	Q	+	1	0	SLC16A5	70608434	0.464000	0.25807	0.933000	0.37362	0.212000	0.24457	1.177000	0.31969	2.292000	0.77174	0.561000	0.74099	CAG		0.627	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		15	49	0	0	0	1	0	15	49				
TAF7L	54457	broad.mit.edu	37	X	100531442	100531442	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:100531442C>G	ENST00000372907.3	-	10	1035	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.D256H	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	342	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						tcatcctcatcttcatcatcc	0.418																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1024-1026)Gat>Cat		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							214.0	169.0	184.0					X																	100531442		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100531442C>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1024G>C	X.37:g.100531442C>G	ENSP00000361998:p.Asp342His					TAF7L_ENST00000356784.1_Missense_Mutation_p.D256H|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron	p.D342H	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			10	1035	-			342			Glu-rich.		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.1024G>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	c	8.528	0.870399	0.17322	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.15487	3.6;2.42	4.65	2.87	0.33458	Armadillo-like helical (1);	0.954397	0.08507	U	0.935513	T	0.23249	0.0562	L	0.36672	1.1	0.09310	N	0.999996	D	0.63046	0.992	P	0.54060	0.741	T	0.20174	-1.0283	10	0.36615	T	0.2	-0.0304	9.0776	0.36531	0.0:0.8214:0.0:0.1786	.	342	Q5H9L4	TAF7L_HUMAN	H	342;256	ENSP00000361998:D342H;ENSP00000349235:D256H	ENSP00000349235:D256H	D	-	1	0	TAF7L	100418098	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.969000	0.03813	0.354000	0.24105	0.464000	0.42555	GAT		0.418	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			30	36	0	0	0	1	0	30	36				
PLEKHG1	57480	broad.mit.edu	37	6	151130354	151130354	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:151130354C>A	ENST00000358517.2	+	8	1237	c.1026C>A	c.(1024-1026)ttC>ttA	p.F342L	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.F342L			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	342	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGACGCTCTTCCTCTTCGACA	0.562																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1024-1026)ttC>ttA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							109.0	102.0	104.0					6																	151130354		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151130354C>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1026C>A	6.37:g.151130354C>A	ENSP00000351318:p.Phe342Leu					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F342L	p.F342L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	9	1338	+			342			PH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1026C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517510	0.85495	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.90844	-2.74;-2.74	5.49	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.67700	2.07	0.58432	D	0.999998	P;D;D	0.71674	0.729;0.998;0.998	B;D;D	0.81914	0.225;0.995;0.995	D	0.92825	0.6275	10	0.51188	T	0.08	.	13.3859	0.60795	0.0:0.9232:0.0:0.0768	.	149;342;342	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	L	342	ENSP00000356297:F342L;ENSP00000351318:F342L	ENSP00000351318:F342L	F	+	3	2	PLEKHG1	151172047	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.573000	0.36472	1.293000	0.44690	0.555000	0.69702	TTC		0.562	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			8	99	1	0	1.26484e-09	1	1.34917e-09	8	99				
SLC16A5	9121	broad.mit.edu	37	17	73100228	73100228	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73100228C>G	ENST00000450736.2	+	5	1732	c.1317C>G	c.(1315-1317)ttC>ttG	p.F439L	SLC16A5_ENST00000580123.1_Missense_Mutation_p.F439L|SLC16A5_ENST00000538213.2_Missense_Mutation_p.F479L|SLC16A5_ENST00000329783.4_Missense_Mutation_p.F439L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	439					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGGATCTTTTCTTGGAAGCCA	0.572																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1315-1317)ttC>ttG		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						60.0	54.0	56.0					17																	73100228		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73100228C>G	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1317C>G	17.37:g.73100228C>G	ENSP00000390564:p.Phe439Leu					SLC16A5_ENST00000538213.2_Missense_Mutation_p.F479L|SLC16A5_ENST00000580123.1_Missense_Mutation_p.F439L|SLC16A5_ENST00000329783.4_Missense_Mutation_p.F439L	p.F439L			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		5	1732	+	all_lung(278;0.226)		439					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.1317C>G	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	C	5.836	0.338391	0.11069	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.05258	3.47;3.47;3.51	5.2	-3.57	0.04612	.	31.338400	0.00166	N	0.000000	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.13407	0.009;0.008	T	0.34950	-0.9808	10	0.12430	T	0.62	.	1.0991	0.01680	0.3099:0.3723:0.1015:0.2162	.	479;439	B4E288;O15375	.;MOT6_HUMAN	L	439;439;479	ENSP00000330141:F439L;ENSP00000390564:F439L;ENSP00000440212:F479L	ENSP00000330141:F439L	F	+	3	2	SLC16A5	70611823	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.469000	0.06648	-0.818000	0.04329	-0.142000	0.14014	TTC		0.572	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		15	65	0	0	0	1	0	15	65				
TPTE	7179	broad.mit.edu	37	21	10921996	10921996	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:10921996C>T	ENST00000361285.4	-	18	1357		c.e18-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTGTTCTATCTAGAAAAGAA	0.313																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e17-1		transmembrane phosphatase with tensin homology							117.0	99.0	105.0					21																	10921996		2203	4299	6502	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921996C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1028-1G>A	21.37:g.10921996C>T						TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site		NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1341	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37		CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.778	-0.046265	0.07407	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.26	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1577	0.31178	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9943867	1.000000	0.71417	0.943000	0.38184	0.025000	0.11179	2.183000	0.42565	1.307000	0.44944	0.121000	0.15741	.		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	15	41	0	0	0	1	0	15	41				
PCLO	27445	broad.mit.edu	37	7	82584377	82584377	+	Silent	SNP	C	C	T	rs375495710		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:82584377C>T	ENST00000333891.9	-	5	6229	c.5892G>A	c.(5890-5892)acG>acA	p.T1964T	PCLO_ENST00000423517.2_Silent_p.T1964T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCCATTGTACGTGTCTTCTA	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5890-5892)acG>acA		piccolo presynaptic cytomatrix protein		C	,	1,3723		0,1,1861	100.0	100.0	100.0		5892,5892	-8.4	0.6	7		100	1,8189		0,1,4094	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,2,5955	TT,TC,CC		0.0122,0.0269,0.0168	,	1964/4936,1964/5143	82584377	2,11912	1862	4095	5957	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584377C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5892G>A	7.37:g.82584377C>T						PCLO_ENST00000333891.8_Silent_p.T1964T	p.T1964T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6229	-			1895						Silent	SNP	ENST00000333891.9	37	c.5892G>A	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	48	0	0	0	1	0	9	48				
PCDHB18	54660	broad.mit.edu	37	5	140615525	140615525	+	RNA	SNP	G	G	A	rs551656003	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140615525G>A	ENST00000526308.1	+	0	1588					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CAACAGCCCCGCCCTGCACAT	0.632																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615525G>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615525G>A								NR_001281.1						0	1588	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.632	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			51	315	0	0	0	1	0	51	315				
FGF6	2251	broad.mit.edu	37	12	4554486	4554486	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:4554486C>T	ENST00000228837.2	-	1	294	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	84					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CCTCCGCTGCCGCTTGATCCC	0.652																																						ENST00000228837.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(250-252)cGg>cAg		fibroblast growth factor 6							84.0	74.0	78.0					12																	4554486		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4554486C>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.251G>A	12.37:g.4554486C>T	ENSP00000228837:p.Arg84Gln						p.R84Q	NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		1	294	-			84					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.251G>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966252	0.92855	.	.	ENSG00000111241	ENST00000228837	D	0.84589	-1.87	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95231	0.8342	10	0.87932	D	0	.	14.2222	0.65836	0.0:0.9279:0.0:0.0721	.	84	P10767	FGF6_HUMAN	Q	84	ENSP00000228837:R84Q	ENSP00000228837:R84Q	R	-	2	0	FGF6	4424747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	1.373000	0.46208	0.655000	0.94253	CGG		0.652	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		35	79	0	0	0	1	0	35	79				
GAL3ST3	89792	broad.mit.edu	37	11	65810819	65810819	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:65810819C>T	ENST00000312006.4	-	3	736	c.455G>A	c.(454-456)cGc>cAc	p.R152H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R152H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	152					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCCGGCTCGCGCAGGATGGT	0.697																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(454-456)cGc>cAc		galactose-3-O-sulfotransferase 3							23.0	25.0	25.0					11																	65810819		2197	4291	6488	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810819C>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.455G>A	11.37:g.65810819C>T	ENSP00000308591:p.Arg152His					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R152H	p.R152H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	736	-			152					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.455G>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613998	0.66672	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99980	-10.28;-10.28	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	M	0.92412	3.305	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.96272	0.9199	10	0.87932	D	0	-22.9321	15.4161	0.74970	0.0:1.0:0.0:0.0	.	152	Q96A11	G3ST3_HUMAN	H	152	ENSP00000308591:R152H;ENSP00000434829:R152H	ENSP00000308591:R152H	R	-	2	0	GAL3ST3	65567395	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.758000	0.85224	2.304000	0.77564	0.561000	0.74099	CGC		0.697	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		7	22	0	0	0	1	0	7	22				
POTEC	388468	broad.mit.edu	37	18	14543063	14543063	+	Missense_Mutation	SNP	A	A	C	rs532182918|rs45626231	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr18:14543063A>C	ENST00000358970.5	-	1	82	c.83T>G	c.(82-84)tTt>tGt	p.F28C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCGGTGGTGAAACCACTTGCC	0.547													.|||	49	0.00978435	0.0045	0.0058	5008	,	,		19360	0.0218		0.0099	False		,,,				2504	0.0072					ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(82-84)tTt>tGt		POTE ankyrin domain family, member C							130.0	111.0	117.0					18																	14543063		692	1591	2283	SO:0001583	missense	388468							g.chr18:14543063A>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.83T>G	18.37:g.14543063A>C	ENSP00000351856:p.Phe28Cys					POTEC_ENST00000389891.4_5'UTR	p.F28C	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	82	-			28		F -> C (in dbSNP:rs45626231).				Missense_Mutation	SNP	ENST00000358970.5	37	c.83T>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.959302	0.00049	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.22134	1.97	0.481	-0.963	0.10330	.	.	.	.	.	T	0.03608	0.0103	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21690	-1.0238	8	0.02654	T	1	.	.	.	.	rs45626231	28	B2RU33	POTEC_HUMAN	C	28	ENSP00000351856:F28C	ENSP00000351856:F28C	F	-	2	0	POTEC	14533063	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.112000	0.00599	-1.794000	0.01256	-1.119000	0.02030	TTT		0.547	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		7	213	0	0	0	1	0	7	213				
BSN	8927	broad.mit.edu	37	3	49662661	49662661	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:49662661C>G	ENST00000296452.4	+	2	592	c.478C>G	c.(478-480)Cag>Gag	p.Q160E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	160					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCGTCCCTCAGATCGCCCC	0.627																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(478-480)Cag>Gag		bassoon presynaptic cytomatrix protein							159.0	133.0	142.0					3																	49662661		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49662661C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.478C>G	3.37:g.49662661C>G	ENSP00000296452:p.Gln160Glu						p.Q160E	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	2	592	+			160					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.478C>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123504	0.56613	.	.	ENSG00000164061	ENST00000296452	T	0.19806	2.12	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.43923	1.385	0.42698	D	0.993602	D	0.55605	0.972	P	0.54544	0.755	T	0.02301	-1.1180	10	0.02654	T	1	.	19.0474	0.93027	0.0:1.0:0.0:0.0	.	160	Q9UPA5	BSN_HUMAN	E	160	ENSP00000296452:Q160E	ENSP00000296452:Q160E	Q	+	1	0	BSN	49637665	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.738000	0.68613	2.514000	0.84764	0.462000	0.41574	CAG		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		48	39	0	0	0	1	0	48	39				
PCDHB5	26167	broad.mit.edu	37	5	140516678	140516678	+	Silent	SNP	C	C	T	rs368703808	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140516678C>T	ENST00000231134.5	+	1	1879	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.716													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15384	0.0		0.0	False		,,,				2504	0.0					ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1660-1662)aaC>aaT				C		0,4398		0,0,2199	29.0	33.0	32.0		1662	-0.3	1.0	5		32	1,8585		0,1,4292	no	coding-synonymous	PCDHB5	NM_015669.2		0,1,6491	TT,TC,CC		0.0116,0.0,0.0077		554/796	140516678	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516678C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1662C>T	5.37:g.140516678C>T							p.N554N	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1879	+			554			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1662C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	3.029	-0.200035	0.06219	0.0	1.16E-4	ENSG00000113209	ENST00000537936	.	.	.	4.42	-0.331	0.12679	.	.	.	.	.	T	0.63698	0.2533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65689	-0.6107	5	0.87932	D	0	.	10.0143	0.42006	0.0:0.4686:0.0:0.5314	.	.	.	.	M	338	.	ENSP00000446220:T338M	T	+	2	0	PCDHB5	140496862	0.006000	0.16342	0.999000	0.59377	0.627000	0.37826	-1.140000	0.03210	0.081000	0.16988	0.194000	0.17425	ACG		0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		8	147	0	0	0	1	0	8	147				
CLASRP	11129	broad.mit.edu	37	19	45561130	45561130	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:45561130A>T	ENST00000221455.3	+	7	685	c.587A>T	c.(586-588)gAc>gTc	p.D196V	CLASRP_ENST00000544944.2_Missense_Mutation_p.D196V|CLASRP_ENST00000391953.4_Missense_Mutation_p.D134V	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	196					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AGCAACTCGGACGAAGATGAG	0.612																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(586-588)gAc>gTc		CLK4-associating serine/arginine rich protein							170.0	110.0	131.0					19																	45561130		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561130A>T	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.587A>T	19.37:g.45561130A>T	ENSP00000221455:p.Asp196Val					CLASRP_ENST00000391953.4_Missense_Mutation_p.D134V|CLASRP_ENST00000221455.3_Missense_Mutation_p.D196V	p.D196V			Q8N2M8	CLASR_HUMAN			6	1279	+			196					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.587A>T	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773392	0.90108	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.67345	0.51;0.54;-0.26;0.55	5.48	5.48	0.80851	.	0.000000	0.37261	U	0.002169	T	0.71256	0.3318	L	0.38175	1.15	0.80722	D	1	D;D;D	0.67145	0.995;0.981;0.996	P;P;P	0.61003	0.882;0.791;0.806	T	0.73767	-0.3879	10	0.59425	D	0.04	-21.8176	13.5244	0.61586	1.0:0.0:0.0:0.0	.	134;196;196	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	V	196;196;134;196	ENSP00000221455:D196V;ENSP00000375814:D196V;ENSP00000375815:D134V;ENSP00000438702:D196V	ENSP00000221455:D196V	D	+	2	0	CLASRP	50252970	1.000000	0.71417	0.950000	0.38849	0.945000	0.59286	8.585000	0.90802	2.086000	0.62901	0.455000	0.32223	GAC		0.612	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		30	40	0	0	0	1	0	30	40				
YTHDC2	64848	broad.mit.edu	37	5	112876758	112876758	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:112876758T>C	ENST00000161863.4	+	9	1517	c.1304T>C	c.(1303-1305)gTg>gCg	p.V435A	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V435A	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	435					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTTCTAAATGTGACTGATGAG	0.403																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1303-1305)gTg>gCg		YTH domain containing 2							204.0	187.0	193.0					5																	112876758		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112876758T>C	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1304T>C	5.37:g.112876758T>C	ENSP00000161863:p.Val435Ala					YTHDC2_ENST00000515883.1_Missense_Mutation_p.V435A	p.V435A	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	9	1517	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	435					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.1304T>C	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510652	0.44660	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06528	4.3;3.29	5.39	5.39	0.77823	.	0.159967	0.44483	D	0.000451	T	0.05686	0.0149	L	0.38175	1.15	0.36555	D	0.872073	B	0.22080	0.064	B	0.18263	0.021	T	0.30851	-0.9964	10	0.11485	T	0.65	.	11.3547	0.49609	0.0:0.0732:0.0:0.9268	.	435	Q9H6S0	YTDC2_HUMAN	A	435;435;345	ENSP00000161863:V435A;ENSP00000423101:V435A	ENSP00000161863:V435A	V	+	2	0	YTHDC2	112904657	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	4.578000	0.60929	2.038000	0.60285	0.533000	0.62120	GTG		0.403	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		7	59	0	0	0	1	0	7	59				
SLC16A5	9121	broad.mit.edu	37	17	73096514	73096514	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096514C>T	ENST00000450736.2	+	4	1171	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SLC16A5_ENST00000580123.1_Silent_p.F252F|SLC16A5_ENST00000538213.2_Silent_p.F292F|SLC16A5_ENST00000329783.4_Silent_p.F252F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	252					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.F252L(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGGCTTCCCACTGCCAC	0.607																																						ENST00000450736.2																			2	Substitution - Missense(2)	p.F252L(2)	cervix(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(754-756)ttC>ttT		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						304.0	246.0	266.0					17																	73096514		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096514C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.756C>T	17.37:g.73096514C>T						SLC16A5_ENST00000538213.2_Silent_p.F292F|SLC16A5_ENST00000580123.1_Silent_p.F252F|SLC16A5_ENST00000329783.4_Silent_p.F252F	p.F252F			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1171	+	all_lung(278;0.226)		252					B4E288	Silent	SNP	ENST00000450736.2	37	c.756C>T	CCDS11713.1																																																																																				0.607	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		17	52	0	0	0	1	0	17	52				
CABS1	85438	broad.mit.edu	37	4	71201489	71201489	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:71201489A>C	ENST00000273936.5	+	1	807	c.733A>C	c.(733-735)Agt>Cgt	p.S245R		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	245					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AATTGACCTAAGTGTTTTAGA	0.408																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(733-735)Agt>Cgt		calcium-binding protein, spermatid-specific 1							107.0	106.0	107.0					4																	71201489		2203	4300	6503	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201489A>C	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.733A>C	4.37:g.71201489A>C	ENSP00000273936:p.Ser245Arg						p.S245R	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	792	+			245					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.733A>C	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	5.052	0.195315	0.09599	.	.	ENSG00000145309	ENST00000273936	T	0.22539	1.95	4.57	0.796	0.18648	.	0.933444	0.08866	N	0.882197	T	0.13030	0.0316	N	0.24115	0.695	0.09310	N	1	P	0.43094	0.799	B	0.39258	0.295	T	0.20840	-1.0263	10	0.38643	T	0.18	-32.5422	6.3643	0.21445	0.7017:0.0:0.2983:0.0	.	245	Q96KC9	CABS1_HUMAN	R	245	ENSP00000273936:S245R	ENSP00000273936:S245R	S	+	1	0	CABS1	71236078	0.002000	0.14202	0.010000	0.14722	0.029000	0.11900	0.132000	0.15891	0.062000	0.16340	0.533000	0.62120	AGT		0.408	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		6	54	0	0	0	1	0	6	54				
IGHV1-69	28461	broad.mit.edu	37	14	107169998	107169998	+	RNA	SNP	G	G	C	rs377032763		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:107169998G>C	ENST00000390633.2	-	0	344									immunoglobulin heavy variable 1-69																		GGCTGTGCTCGTGGATTTGTC	0.532																																						ENST00000390633.2																			0															G		1,4211		0,1,2105	327.0	268.0	288.0			0.2	0.3	14		288	0,8400		0,0,4200	no	intergenic				0,1,6305	CC,CG,GG		0.0,0.0237,0.0079			107169998	1,12611	2106	4200	6306			0							g.chr14:107169998G>C	L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107169998G>C														0	344	-									RNA	SNP	ENST00000390633.2	37																																																																																						0.532	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324207.1	NG_001019		8	351	0	0	0	1	0	8	351				
CTNNA3	29119	broad.mit.edu	37	10	67862963	67862963	+	Silent	SNP	G	G	A	rs147760277	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:67862963G>A	ENST00000433211.2	-	14	2103	c.1929C>T	c.(1927-1929)caC>caT	p.H643H	CTNNA3_ENST00000373744.4_Silent_p.H643H|RP11-210G22.1_ENST00000608793.1_RNA	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCGGACCTCGTGTTCCTCTT	0.458																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1927-1929)caC>caT		catenin (cadherin-associated protein), alpha 3		G	,	1,4405	2.1+/-5.4	0,1,2202	205.0	154.0	172.0		1929,1929	-3.5	0.9	10	dbSNP_134	172	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	CTNNA3	NM_001127384.1,NM_013266.2	,	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	,	643/896,643/896	67862963	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67862963G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1929C>T	10.37:g.67862963G>A						CTNNA3_ENST00000373744.4_Silent_p.H643H	p.H643H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			14	2103	-			643						Silent	SNP	ENST00000433211.2	37	c.1929C>T	CCDS7269.1																																																																																				0.458	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		25	16	0	0	0	1	0	25	16				
CYP2U1	113612	broad.mit.edu	37	4	108866752	108866752	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:108866752G>A	ENST00000332884.6	+	2	1392	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.D164N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	373					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GCTGAACCCCGATGTACAAGG	0.408																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(1117-1119)Gat>Aat		cytochrome P450, family 2, subfamily U, polypeptide 1							130.0	127.0	128.0					4																	108866752		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866752G>A	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1117G>A	4.37:g.108866752G>A	ENSP00000333212:p.Asp373Asn					RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.D164N	p.D373N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1392	+		Hepatocellular(203;0.217)	373					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.1117G>A	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	5.897	0.349638	0.11182	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.80824	-1.42;-1.42	5.83	2.19	0.27852	.	0.338972	0.36409	N	0.002618	T	0.74129	0.3676	L	0.52011	1.625	0.20489	N	0.999896	B	0.26708	0.157	B	0.33196	0.159	T	0.64850	-0.6310	10	0.54805	T	0.06	.	7.1256	0.25469	0.1942:0.227:0.5788:0.0	.	373	Q7Z449	CP2U1_HUMAN	N	373;330;164	ENSP00000333212:D373N;ENSP00000423667:D164N	ENSP00000333212:D373N	D	+	1	0	CYP2U1	109086201	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	3.731000	0.55013	0.097000	0.17492	-1.075000	0.02238	GAT		0.408	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		9	61	0	0	0	1	0	9	61				
FRMPD1	22844	broad.mit.edu	37	9	37745756	37745756	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:37745756G>T	ENST00000539465.1	+	16	4320	c.3727G>T	c.(3727-3729)Gac>Tac	p.D1243Y	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1243Y|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1243						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGCCCCTAGGGACAGCCCTGA	0.512																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3727-3729)Gac>Tac		FERM and PDZ domain containing 1							82.0	81.0	81.0					9																	37745756		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745756G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3727G>T	9.37:g.37745756G>T	ENSP00000444411:p.Asp1243Tyr					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1243Y	p.D1243Y			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4320	+			1243					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3727G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744709	0.49151	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.08807	3.05;3.05	5.29	2.36	0.29203	.	0.708215	0.14756	N	0.300269	T	0.07413	0.0187	N	0.24115	0.695	0.09310	N	1	P	0.50943	0.94	P	0.48030	0.564	T	0.25710	-1.0124	10	0.49607	T	0.09	-6.7524	5.1771	0.15141	0.1846:0.1704:0.645:0.0	.	1243	Q5SYB0	FRPD1_HUMAN	Y	1243	ENSP00000366995:D1243Y;ENSP00000444411:D1243Y	ENSP00000366995:D1243Y	D	+	1	0	FRMPD1	37735756	0.020000	0.18652	0.012000	0.15200	0.101000	0.19017	1.471000	0.35365	0.592000	0.29728	0.556000	0.70494	GAC		0.512	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		44	60	1	0	3.66854e-30	1	4.08325e-30	44	60				
DYRK3	8444	broad.mit.edu	37	1	206821770	206821770	+	Silent	SNP	C	C	T	rs146045931		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:206821770C>T	ENST00000367109.2	+	3	1395	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	DYRK3_ENST00000367106.1_Silent_p.F389F|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Silent_p.F389F	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCCTCTCTTCCCTGGAGAGG	0.488																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1165-1167)ttC>ttT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3		C	,	0,4406		0,0,2203	115.0	123.0	121.0		1167,1227	3.5	1.0	1	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DYRK3	NM_001004023.1,NM_003582.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	389/569,409/589	206821770	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821770C>T	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1227C>T	1.37:g.206821770C>T						DYRK3_ENST00000367109.2_Silent_p.F409F|DYRK3_ENST00000367108.3_Silent_p.F389F|DYRK3_ENST00000489878.1_Intron	p.F389F			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1640	+	Breast(84;0.183)		409			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	SNP	ENST00000367109.2	37	c.1167C>T	CCDS30999.1																																																																																				0.488	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		46	121	0	0	0	1	0	46	121				
OR52W1	120787	broad.mit.edu	37	11	6221330	6221330	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:6221330C>A	ENST00000311352.2	+	1	955	c.877C>A	c.(877-879)Ctc>Atc	p.L293I	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACCTGCCCTCAACCCCCT	0.532																																						ENST00000311352.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11						c.(877-879)Ctc>Atc		olfactory receptor, family 52, subfamily W, member 1							227.0	231.0	230.0					11																	6221330		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6221330C>A	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.877C>A	11.37:g.6221330C>A	ENSP00000309673:p.Leu293Ile						p.L293I	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	955	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	293					Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.877C>A	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168191	0.57476	.	.	ENSG00000175485	ENST00000311352	T	0.44083	0.93	5.1	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.229124	0.22326	N	0.061536	T	0.40067	0.1102	M	0.66560	2.04	0.35217	D	0.775697	B	0.31968	0.349	B	0.24541	0.054	T	0.55939	-0.8061	10	0.66056	D	0.02	.	12.5721	0.56342	0.0:0.9194:0.0:0.0806	.	293	Q6IF63	O52W1_HUMAN	I	293	ENSP00000309673:L293I	ENSP00000309673:L293I	L	+	1	0	OR52W1	6177906	0.073000	0.21202	1.000000	0.80357	0.941000	0.58515	0.471000	0.22100	1.263000	0.44181	0.557000	0.71058	CTC		0.532	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		5	297	1	0	0.217242	1	0.218953	5	297				
TMUB2	79089	broad.mit.edu	37	17	42268225	42268225	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:42268225G>A	ENST00000587989.1	+	4	1112	c.959G>A	c.(958-960)gGa>gAa	p.G320E	TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000446571.3_Missense_Mutation_p.G263E|TMUB2_ENST00000319511.6_Missense_Mutation_p.G300E|TMUB2_ENST00000538716.2_Missense_Mutation_p.G320E|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.G300E|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.G300E|TMUB2_ENST00000592825.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	320						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGATGTATGGACGATAAGGA	0.527																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(898-900)gGa>gAa		transmembrane and ubiquitin-like domain containing 2							116.0	114.0	114.0					17																	42268225		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42268225G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.959G>A	17.37:g.42268225G>A	ENSP00000466971:p.Gly320Glu					TMUB2_ENST00000587989.1_Missense_Mutation_p.G320E|TMUB2_ENST00000538716.2_Missense_Mutation_p.G320E|TMUB2_ENST00000446571.3_Missense_Mutation_p.G263E|TMUB2_ENST00000357984.3_Missense_Mutation_p.G300E|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.G300E|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589184.1_3'UTR	p.G300E	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1549	+		Breast(137;0.00765)|Prostate(33;0.0181)	320					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.899G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957798	0.73902	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.98;0.95;0.93;0.95	5.41	4.42	0.53409	.	0.367857	0.30428	N	0.009648	T	0.44074	0.1276	L	0.47716	1.5	0.41806	D	0.989942	D;P;D	0.59767	0.961;0.835;0.986	B;P;P	0.48304	0.36;0.466;0.573	T	0.41052	-0.9530	10	0.40728	T	0.16	-19.8438	14.9931	0.71406	0.0:0.1436:0.8564:0.0	.	263;300;320	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	E	263;300;320;300	ENSP00000413127:G263E;ENSP00000350672:G300E;ENSP00000444565:G320E;ENSP00000313214:G300E	ENSP00000313214:G300E	G	+	2	0	TMUB2	39623751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.244000	0.72391	1.484000	0.48361	0.555000	0.69702	GGA		0.527	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		44	112	0	0	0	1	0	44	112				
MUC4	4585	broad.mit.edu	37	3	195511283	195511283	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:195511283C>T	ENST00000463781.3	-	2	7627	c.7168G>A	c.(7168-7170)Gct>Act	p.A2390T	MUC4_ENST00000475231.1_Missense_Mutation_p.A2390T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A2390T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGCGTCGGTGACA	0.592																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.A2390T(2)	kidney(2)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(7168-7170)Gct>Act		mucin 4, cell surface associated							28.0	31.0	30.0					3																	195511283		681	1586	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511283C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7168G>A	3.37:g.195511283C>T	ENSP00000417498:p.Ala2390Thr					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2390T	p.A2390T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7627	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	148					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.7168G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186814	0.09547	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.47	.	.	.	.	.	.	.	.	T	0.09423	0.0232	N	0.02539	-0.55	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.32428	-0.9907	7	.	.	.	.	4.7077	0.12858	0.3536:0.6463:0.0:1.0E-4	.	2390	E7ESK3	.	T	2390	ENSP00000417498:A2390T;ENSP00000420243:A2390T	.	A	-	1	0	MUC4	196995678	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-3.000000	0.00653	-0.833000	0.04245	0.064000	0.15345	GCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	10	0	0	0	1	0	3	10				
SLC39A10	57181	broad.mit.edu	37	2	196573523	196573523	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:196573523C>T	ENST00000409086.3	+	5	1805	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	SLC39A10_ENST00000541054.1_Silent_p.I60I|SLC39A10_ENST00000359634.5_Silent_p.I510I	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	510					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCTATTTATCATTGAACACT	0.284																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1528-1530)atC>atT		solute carrier family 39 (zinc transporter), member 10							103.0	95.0	97.0					2																	196573523		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196573523C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1530C>T	2.37:g.196573523C>T						SLC39A10_ENST00000359634.5_Silent_p.I510I|SLC39A10_ENST00000541054.1_Silent_p.I60I	p.I510I	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		5	1805	+			510					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.1530C>T	CCDS33353.1																																																																																				0.284	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		17	41	0	0	0	1	0	17	41				
SYNE1	23345	broad.mit.edu	37	6	152831401	152831401	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:152831401G>A	ENST00000367255.5	-	8	1109	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W|SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	170	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R170W(7)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCACCTTCCGTTTACTTGGT	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			7	Substitution - Missense(7)	p.R170W(7)	large_intestine(4)|prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(508-510)Cgg>Tgg		spectrin repeat containing, nuclear envelope 1							195.0	175.0	182.0					6																	152831401		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152831401G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.508C>T	6.37:g.152831401G>A	ENSP00000356224:p.Arg170Trp	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W|SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W	p.R170W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1109	-		Ovarian(120;0.0955)	170			Actin-binding.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.508C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271820	0.59649	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.92348	0.32;0.31;0.22;0.31;0.47;-2.46;-2.58;-2.59;-2.83;-3.02	5.66	1.3	0.21679	Calponin homology domain (1);	0.118151	0.37219	N	0.002183	D	0.94889	0.8348	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;1.0	D	0.95353	0.8448	10	0.72032	D	0.01	.	14.8467	0.70264	0.0:0.0:0.52:0.4799	.	170;170;170;170;177	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	W	170;177;170;177;170;170;177;170;170;170	ENSP00000356224:R170W;ENSP00000396024:R177W;ENSP00000265368:R170W;ENSP00000390975:R177W;ENSP00000341887:R170W;ENSP00000356222:R170W;ENSP00000356217:R177W;ENSP00000414510:R170W;ENSP00000446021:R170W;ENSP00000441264:R170W	ENSP00000265368:R170W	R	-	1	2	SYNE1	152873094	0.978000	0.34361	0.672000	0.29872	0.750000	0.42670	1.413000	0.34725	0.686000	0.31488	-0.202000	0.12741	CGG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		37	48	0	0	0	1	0	37	48				
SLC25A51	92014	broad.mit.edu	37	9	37888412	37888412	+	Missense_Mutation	SNP	C	C	T	rs370897815		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:37888412C>T	ENST00000377716.2	-	3	879	c.136G>A	c.(136-138)Gca>Aca	p.A46T	SLC25A51_ENST00000380590.3_Missense_Mutation_p.A46T|SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.A46T			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	46					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AATGTGATTGCGACATTGTTG	0.408																																						ENST00000377716.2																			0											c.(136-138)Gca>Aca		solute carrier family 25, member 51		C	THR/ALA	0,4406		0,0,2203	106.0	99.0	101.0		136	5.1	0.0	9		101	2,8598		0,2,4298	no	missense	MCART1	NM_033412.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	46/298	37888412	2,13004	2203	4300	6503	SO:0001583	missense	92014				transport	integral to membrane|mitochondrial inner membrane		g.chr9:37888412C>T	BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.136G>A	9.37:g.37888412C>T	ENSP00000366945:p.Ala46Thr					SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.A46T|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.A46T	p.A46T			Q9H1U9	MCAR1_HUMAN			3	879	-			46						Missense_Mutation	SNP	ENST00000377716.2	37	c.136G>A	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	3.446	-0.113101	0.06881	0.0	2.33E-4	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.77750	-1.12;-1.12;-1.12	5.08	5.08	0.68730	Mitochondrial carrier domain (2);	0.420063	0.24178	N	0.040826	T	0.65069	0.2656	N	0.17764	0.52	0.20196	N	0.999922	B	0.12630	0.006	B	0.08055	0.003	T	0.50775	-0.8788	10	0.25751	T	0.34	.	15.9661	0.79970	0.0:1.0:0.0:0.0	.	46	Q9H1U9	MCAR1_HUMAN	T	46	ENSP00000369964:A46T;ENSP00000366945:A46T;ENSP00000242275:A46T	ENSP00000242275:A46T	A	-	1	0	MCART1	37878412	0.069000	0.21087	0.022000	0.16811	0.180000	0.23129	0.648000	0.24828	2.367000	0.80283	0.585000	0.79938	GCA		0.408	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		12	86	0	0	0	1	0	12	86				
RAP1A	5906	broad.mit.edu	37	1	112234017	112234017	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:112234017G>A	ENST00000369709.3	+	2	214	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1A_ENST00000356415.1_Missense_Mutation_p.G12E|RAP1A_ENST00000436150.2_Missense_Mutation_p.G12E|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.G12E	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	12					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		CTTGGTTCAGGAGGCGTTGGG	0.368																																						ENST00000369709.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(34-36)gGa>gAa		RAP1A, member of RAS oncogene family							138.0	123.0	128.0					1																	112234017		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112234017G>A	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.35G>A	1.37:g.112234017G>A	ENSP00000358723:p.Gly12Glu					RAP1A_ENST00000436150.2_Missense_Mutation_p.G12E|RAP1A_ENST00000356415.1_Missense_Mutation_p.G12E|RAP1A_ENST00000545460.1_Missense_Mutation_p.G12E|RAP1A_ENST00000494982.1_3'UTR	p.G12E	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	2	214	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	12					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.35G>A	CCDS840.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828961	0.90955	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.72	4.72	0.59763	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90780	0.4678	10	0.87932	D	0	.	16.8255	0.85930	0.0:0.0:1.0:0.0	.	12	P62834	RAP1A_HUMAN	E	12	ENSP00000348786:G12E;ENSP00000396741:G12E;ENSP00000358723:G12E;ENSP00000394318:G12E;ENSP00000443009:G12E	ENSP00000348786:G12E	G	+	2	0	RAP1A	112035540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.955000	0.93058	2.315000	0.78130	0.455000	0.32223	GGA		0.368	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		16	13	0	0	0	1	0	16	13				
AKAP8	10270	broad.mit.edu	37	19	15472610	15472610	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:15472610C>G	ENST00000269701.2	-	11	1386	c.1326G>C	c.(1324-1326)aaG>aaC	p.K442N		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	442					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCTCAATTTTCTTATTTCTGT	0.453																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1324-1326)aaG>aaC		A kinase (PRKA) anchor protein 8							120.0	111.0	114.0					19																	15472610		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15472610C>G	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1326G>C	19.37:g.15472610C>G	ENSP00000269701:p.Lys442Asn						p.K442N	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			11	1386	-			442						Missense_Mutation	SNP	ENST00000269701.2	37	c.1326G>C	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245819	0.59103	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.56611	0.45	5.82	4.79	0.61399	.	0.000000	0.64402	D	0.000009	T	0.65893	0.2735	L	0.52905	1.665	0.42787	D	0.993885	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.939	T	0.69907	-0.5018	10	0.87932	D	0	-46.6282	13.5996	0.62011	0.0:0.9246:0.0:0.0754	.	442;442	Q8NE02;O43823	.;AKAP8_HUMAN	N	442;191	ENSP00000269701:K442N	ENSP00000269701:K442N	K	-	3	2	AKAP8	15333610	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	1.927000	0.40094	1.464000	0.47987	0.557000	0.71058	AAG		0.453	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		26	21	0	0	0	1	0	26	21				
ZNF749	388567	broad.mit.edu	37	19	57953359	57953359	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:57953359T>A	ENST00000334181.4	+	2	372	c.122T>A	c.(121-123)tTt>tAt	p.F41Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTGGAGAACTTTGCGCTTTTG	0.458																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(121-123)tTt>tAt		zinc finger protein 749							224.0	226.0	225.0					19																	57953359		2100	4248	6348	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57953359T>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.122T>A	19.37:g.57953359T>A	ENSP00000333980:p.Phe41Tyr					AC004076.9_ENST00000596831.1_Intron	p.F41Y	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	2	372	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	41			KRAB.			Missense_Mutation	SNP	ENST00000334181.4	37	c.122T>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	T	4.769	0.142906	0.09083	.	.	ENSG00000186230	ENST00000334181	T	0.01347	4.99	1.94	1.94	0.25998	Krueppel-associated box (4);	.	.	.	.	T	0.01387	0.0045	N	0.03304	-0.355	0.09310	N	0.999998	D	0.59767	0.986	D	0.66602	0.945	T	0.41305	-0.9516	9	0.02654	T	1	.	5.89	0.18904	0.0:0.0:0.0:1.0	.	41	O43361	ZN749_HUMAN	Y	41	ENSP00000333980:F41Y	ENSP00000333980:F41Y	F	+	2	0	ZNF749	62645171	0.003000	0.15002	0.027000	0.17364	0.826000	0.46750	0.646000	0.24797	1.139000	0.42245	0.254000	0.18369	TTT		0.458	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		9	224	0	0	0	1	0	9	224				
ZKSCAN7	55888	broad.mit.edu	37	3	44612304	44612304	+	Nonsense_Mutation	SNP	C	C	T	rs200003223		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:44612304C>T	ENST00000273320.3	+	6	2131	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.R568*|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	568					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)	p.R568*(1)									ATGTCTTATTCGACATCAGAG	0.433																																						ENST00000273320.3																			1	Substitution - Nonsense(1)	p.R568*(1)	large_intestine(1)								c.(1702-1704)Cga>Tga		zinc finger with KRAB and SCAN domains 7		C	stop/ARG,	0,4406		0,0,2203	90.0	91.0	90.0		1702,	3.3	1.0	3		90	1,8599		0,1,4299	no	stop-gained,intron	ZNF167	NM_018651.2,NM_025169.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	568/755,	44612304	1,13005	2203	4300	6503	SO:0001587	stop_gained	55888							g.chr3:44612304C>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1702C>T	3.37:g.44612304C>T	ENSP00000273320:p.Arg568*					ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.R568*|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron	p.R568*	NM_018651.2	NP_061121.2					6	2131	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Nonsense_Mutation	SNP	ENST00000273320.3	37	c.1702C>T	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	38	7.137541	0.98088	0.0	1.16E-4	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	.	.	.	4.21	3.29	0.37713	.	0.348037	0.16505	N	0.211495	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-4.0189	10.3669	0.44030	0.3844:0.6156:0.0:0.0	.	.	.	.	X	568;568;6	.	ENSP00000273320:R568X	R	+	1	2	ZNF167	44587308	0.000000	0.05858	1.000000	0.80357	0.895000	0.52256	-0.426000	0.07008	2.189000	0.69895	0.655000	0.94253	CGA		0.433	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		47	44	0	0	0	1	0	47	44				
CREB5	9586	broad.mit.edu	37	7	28547289	28547289	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:28547289C>T	ENST00000357727.2	+	4	615	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CREB5_ENST00000396299.2_Silent_p.F42F|CREB5_ENST00000396300.2_Silent_p.F68F|CREB5_ENST00000409603.1_Silent_p.F42F	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	75					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGGGCCTCTTCAGCGAGCTGG	0.542																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(223-225)ttC>ttT		cAMP responsive element binding protein 5							108.0	114.0	112.0					7																	28547289		2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28547289C>T	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.225C>T	7.37:g.28547289C>T						CREB5_ENST00000396299.2_Silent_p.F42F|CREB5_ENST00000396300.2_Silent_p.F68F|CREB5_ENST00000409603.1_Silent_p.F42F	p.F75F	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			4	615	+			75					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.225C>T	CCDS5417.1																																																																																				0.542	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		78	104	0	0	0	1	0	78	104				
MAGEC2	51438	broad.mit.edu	37	X	141290899	141290899	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:141290899C>G	ENST00000247452.3	-	3	1222	c.875G>C	c.(874-876)aGt>aCt	p.S292T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	292	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGGAGAACTGTGGGGCAC	0.498										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(874-876)aGt>aCt		melanoma antigen family C, 2							83.0	83.0	83.0					X																	141290899		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290899C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.875G>C	X.37:g.141290899C>G	ENSP00000354660:p.Ser292Thr	HNSCC(46;0.14)					p.S292T	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	1222	-	Acute lymphoblastic leukemia(192;6.56e-05)		292			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.875G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	8.474	0.858277	0.17178	.	.	ENSG00000046774	ENST00000247452	T	0.05081	3.5	0.988	-1.44	0.08856	.	0.283227	0.30911	N	0.008638	T	0.09555	0.0235	L	0.40543	1.245	0.09310	N	1	D	0.61697	0.99	D	0.66497	0.944	T	0.20974	-1.0259	10	0.36615	T	0.2	.	2.4123	0.04428	0.0:0.4186:0.3208:0.2606	.	292	Q9UBF1	MAGC2_HUMAN	T	292	ENSP00000354660:S292T	ENSP00000354660:S292T	S	-	2	0	MAGEC2	141118565	0.039000	0.19947	0.001000	0.08648	0.049000	0.14656	-0.053000	0.11846	-0.647000	0.05444	-0.893000	0.02921	AGT		0.498	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		24	59	0	0	0	1	0	24	59				
CABIN1	23523	broad.mit.edu	37	22	24561546	24561546	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr22:24561546C>T	ENST00000398319.2	+	31	5344	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	CABIN1_ENST00000263119.5_Silent_p.F1653F|CABIN1_ENST00000405822.2_Silent_p.F1574F|CABIN1_ENST00000337989.7_Silent_p.F78F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1653					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCGGGCCTTCATCCTCACTG	0.602																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4957-4959)ttC>ttT		calcineurin binding protein 1							99.0	67.0	78.0					22																	24561546		2202	4300	6502	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24561546C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4959C>T	22.37:g.24561546C>T						CABIN1_ENST00000263119.5_Silent_p.F1653F|CABIN1_ENST00000337989.7_Silent_p.F78F|CABIN1_ENST00000405822.2_Silent_p.F1574F	p.F1653F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			31	5344	+			1653					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.4959C>T	CCDS13823.1																																																																																				0.602	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		27	9	0	0	0	1	0	27	9				
CROCCP2	84809	broad.mit.edu	37	1	16956357	16956357	+	lincRNA	SNP	C	C	T	rs547993458	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:16956357C>T	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											tggggtttcaccatgttggcc	0.532													.|||	120	0.0239617	0.0113	0.0432	5008	,	,		62536	0.0		0.0557	False		,,,				2504	0.0194					ENST00000412962.1																			0																																																			0							g.chr1:16956357C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956357C>T														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.532	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	7	0	0	0	1	0	3	7				
APOB	338	broad.mit.edu	37	2	21229150	21229150	+	Silent	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:21229150C>A	ENST00000233242.1	-	26	10717	c.10590G>T	c.(10588-10590)gtG>gtT	p.V3530V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3530					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCAGCTTCACTGAAGACC	0.443																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10588-10590)gtG>gtT		apolipoprotein B	Atorvastatin(DB01076)						124.0	129.0	127.0					2																	21229150		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229150C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10590G>T	2.37:g.21229150C>A							p.V3530V	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10717	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3530					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.10590G>T	CCDS1703.1																																																																																				0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			67	68	1	0	3.13743e-37	1	3.52273e-37	67	68				
CDH16	1014	broad.mit.edu	37	16	66944333	66944333	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:66944333G>C	ENST00000299752.4	-	15	2190	c.1997C>G	c.(1996-1998)aCt>aGt	p.T666S	CDH16_ENST00000568632.1_Missense_Mutation_p.T569S|CDH16_ENST00000394055.3_Missense_Mutation_p.T644S|CDH16_ENST00000565796.1_Intron|CDH16_ENST00000570262.1_Missense_Mutation_p.T586S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	666	Ectodomain G.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGGCAAGAGTCAGGGCTGG	0.637																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1996-1998)aCt>aGt		cadherin 16, KSP-cadherin							91.0	98.0	96.0					16																	66944333		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944333G>C	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1997C>G	16.37:g.66944333G>C	ENSP00000299752:p.Thr666Ser					CDH16_ENST00000565796.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.T644S|CDH16_ENST00000570262.1_Missense_Mutation_p.T586S|CDH16_ENST00000568632.1_Missense_Mutation_p.T569S	p.T666S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2190	-		Ovarian(137;0.0563)	666			Ectodomain G.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1997C>G	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526676	0.27299	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.57107	0.42;0.57	4.61	0.144	0.14824	.	1.016110	0.07857	N	0.965607	T	0.40956	0.1138	L	0.44542	1.39	0.09310	N	1	B;B;B	0.27229	0.137;0.172;0.085	B;B;B	0.28011	0.085;0.039;0.039	T	0.38156	-0.9674	10	0.40728	T	0.16	0.0734	3.94	0.09323	0.308:0.1789:0.5131:0.0	.	644;666;666	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	S	644;666;630	ENSP00000377619:T644S;ENSP00000299752:T666S	ENSP00000299752:T666S	T	-	2	0	CDH16	65501834	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.284000	0.18864	0.550000	0.28991	0.455000	0.32223	ACT		0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		50	35	0	0	0	1	0	50	35				
TCHH	7062	broad.mit.edu	37	1	152080396	152080396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:152080396C>T	ENST00000368804.1	-	2	5296	c.5297G>A	c.(5296-5298)cGc>cAc	p.R1766H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1766	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCTCCTGGCGGCGCAGCTG	0.587																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5296-5298)cGc>cAc		trichohyalin							62.0	62.0	62.0					1																	152080396		1882	4105	5987	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080396C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5297G>A	1.37:g.152080396C>T	ENSP00000357794:p.Arg1766His						p.R1766H	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5296	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1766			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5297G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207726	0.39003	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	3.95	0.801	0.18679	.	.	.	.	.	T	0.05547	0.0146	L	0.52573	1.65	0.09310	N	1	D	0.76494	0.999	P	0.61722	0.893	T	0.26018	-1.0115	9	0.51188	T	0.08	0.9486	5.4643	0.16634	0.3498:0.5489:0.0:0.1012	.	1766	Q07283	TRHY_HUMAN	H	1766	ENSP00000357794:R1766H	ENSP00000357794:R1766H	R	-	2	0	TCHH	150347020	0.001000	0.12720	0.003000	0.11579	0.665000	0.39181	0.178000	0.16820	-0.015000	0.14150	0.467000	0.42956	CGC		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		19	82	0	0	0	1	0	19	82				
PLA2G4D	283748	broad.mit.edu	37	15	42374009	42374009	+	Silent	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:42374009G>C	ENST00000290472.3	-	10	901	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	269					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCTCTGCCTTGAGCTGCAGCC	0.587																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(805-807)ctC>ctG		phospholipase A2, group IVD (cytosolic)							113.0	113.0	113.0					15																	42374009		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42374009G>C	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.807C>G	15.37:g.42374009G>C							p.L269L	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	10	901	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	269					Q8N176	Silent	SNP	ENST00000290472.3	37	c.807C>G	CCDS32203.1																																																																																				0.587	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		57	83	0	0	0	1	0	57	83				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	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						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			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		4	64	0	0	0	1	0	4	64				
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:62839350G>A	ENST00000328439.1	+	7	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_ENST00000536311.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(799-801)gaG>gaA		myelin transcription factor 1							19.0	19.0	19.0					20																	62839350		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839350G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.801G>A	20.37:g.62839350G>A						MYT1_ENST00000328439.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron	p.E267E			Q01538	MYT1_HUMAN			7	1165	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		267			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.801G>A	CCDS13558.1																																																																																				0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	25	0	0	0	1	0	3	25				
AP1G1	164	broad.mit.edu	37	16	71823359	71823359	+	Silent	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:71823359C>A	ENST00000299980.4	-	2	465	c.24G>T	c.(22-24)cgG>cgT	p.R8R	AP1G1_ENST00000423132.2_Silent_p.R8R|AP1G1_ENST00000433195.2_Silent_p.R31R|AP1G1_ENST00000569748.1_Silent_p.R8R|AP1G1_ENST00000393512.3_Silent_p.R8R|AP1G1_ENST00000570297.1_5'UTR	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	8					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GGATCAGCTCCCGCAATCTGA	0.453																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(22-24)cgG>cgT		adaptor-related protein complex 1, gamma 1 subunit							95.0	83.0	87.0					16																	71823359		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71823359C>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.24G>T	16.37:g.71823359C>A						AP1G1_ENST00000569748.1_Silent_p.R8R|AP1G1_ENST00000433195.2_Silent_p.R31R|AP1G1_ENST00000423132.2_Silent_p.R8R|AP1G1_ENST00000393512.3_Silent_p.R8R|AP1G1_ENST00000570297.1_5'UTR	p.R8R	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			2	465	-		Ovarian(137;0.125)	8					O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.24G>T	CCDS32480.1																																																																																				0.453	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			12	26	1	0	6.53275e-17	1	7.20855e-17	12	26				
OR5L1	219437	broad.mit.edu	37	11	55579557	55579557	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:55579557G>A	ENST00000333973.2	+	1	704	c.615G>A	c.(613-615)ttG>ttA	p.L205L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGCCACTTTGAATGAGAGTG	0.468																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(613-615)ttG>ttA		olfactory receptor, family 5, subfamily L, member 1							247.0	203.0	218.0					11																	55579557		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579557G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.615G>A	11.37:g.55579557G>A							p.L205L	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	704	+		all_epithelial(135;0.208)	205					B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.615G>A	CCDS31509.1																																																																																				0.468	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		16	104	0	0	0	1	0	16	104				
PTCRA	171558	broad.mit.edu	37	6	42890923	42890923	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:42890923G>A	ENST00000304672.1	+	2	298	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	PTCRA_ENST00000441198.1_Missense_Mutation_p.A48T|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	73					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGCACTGGATGCCTTCACCTA	0.602																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(217-219)Gcc>Acc		pre T-cell antigen receptor alpha							180.0	143.0	156.0					6																	42890923		2203	4300	6503	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42890923G>A	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.217G>A	6.37:g.42890923G>A	ENSP00000304447:p.Ala73Thr					PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.A48T	p.A73T	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	298	+	Colorectal(47;0.196)		73					Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.217G>A	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024273	0.75390	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.56275	0.47;0.47	5.84	2.92	0.33932	Immunoglobulin-like fold (1);	0.145158	0.32190	N	0.006453	T	0.35595	0.0937	L	0.36672	1.1	0.33481	D	0.587502	D;D	0.56746	0.976;0.977	P;B	0.54060	0.741;0.262	T	0.37776	-0.9691	10	0.72032	D	0.01	-18.3829	6.1672	0.20396	0.0855:0.0:0.5821:0.3324	.	48;73	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	T	73;48	ENSP00000304447:A73T;ENSP00000409550:A48T	ENSP00000304447:A73T	A	+	1	0	PTCRA	42998901	0.905000	0.30787	0.972000	0.41901	0.862000	0.49288	1.178000	0.31981	0.782000	0.33613	-0.188000	0.12872	GCC		0.602	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		16	134	0	0	0	1	0	16	134				
EPHA5	2044	broad.mit.edu	37	4	66361138	66361138	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:66361138C>T	ENST00000273854.3	-	4	1634	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345K|EPHA5_ENST00000511294.1_Missense_Mutation_p.R345K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	345	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCAGACTCTCTCCTGAAATA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1033-1035)aGa>aAa		EPH receptor A5							173.0	168.0	170.0					4																	66361138		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361138C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1034G>A	4.37:g.66361138C>T	ENSP00000273854:p.Arg345Lys	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.R345K|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345K|EPHA5_ENST00000432638.2_Intron	p.R345K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			4	1634	-			345			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1034G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718477	0.48622	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.71341	1.6;1.6;-0.56	5.84	4.99	0.66335	.	0.098802	0.44097	N	0.000487	T	0.55016	0.1894	N	0.16368	0.405	0.23304	N	0.997944	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.53034	-0.8495	10	0.72032	D	0.01	.	11.6893	0.51505	0.0:0.8121:0.0:0.1879	.	345;345;345;345	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	345	ENSP00000273854:R345K;ENSP00000346899:R345K;ENSP00000427638:R345K	ENSP00000273854:R345K	R	-	2	0	EPHA5	66043733	0.945000	0.32115	1.000000	0.80357	0.991000	0.79684	0.420000	0.21263	1.449000	0.47699	0.460000	0.39030	AGA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		30	83	0	0	0	1	0	30	83				
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs397516437|rs28934573		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139.0	108.0	118.0					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y	p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	24	1	0	4.22769e-11	1	4.62517e-11	26	24				
MFN1	55669	broad.mit.edu	37	3	179095162	179095162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:179095162C>T	ENST00000471841.1	+	12	1381	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.R419*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.R419*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	419					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGAAATTTGTCGACTGTCTGT	0.234																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(1255-1257)Cga>Tga		mitofusin 1							83.0	86.0	85.0					3																	179095162		2203	4296	6499	SO:0001587	stop_gained	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179095162C>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1255C>T	3.37:g.179095162C>T	ENSP00000420617:p.Arg419*					MFN1_ENST00000280653.7_Nonsense_Mutation_p.R419*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.R419*	p.R419*	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		12	1381	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		419					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP	ENST00000471841.1	37	c.1255C>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321340	0.95682	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	.	.	.	5.49	5.49	0.81192	.	0.054127	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5651	19.3515	0.94389	0.0:1.0:0.0:0.0	.	.	.	.	X	419;419;419;419;282	.	ENSP00000263969:R419X	R	+	1	2	MFN1	180577856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.437000	0.44828	2.576000	0.86940	0.591000	0.81541	CGA		0.234	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		8	49	0	0	0	1	0	8	49				
CHRNA2	1135	broad.mit.edu	37	8	27321250	27321250	+	Missense_Mutation	SNP	G	G	A	rs140350483	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:27321250G>A	ENST00000520933.2	-	5	863	c.710C>T	c.(709-711)aCg>aTg	p.T237M	CHRNA2_ENST00000407991.1_Missense_Mutation_p.T237M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.T222M			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	237					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GTAGGTGCCCGTGGCATTGAC	0.592																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(709-711)aCg>aTg		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						215.0	173.0	187.0					8																	27321250		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27321250G>A	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.710C>T	8.37:g.27321250G>A	ENSP00000429616:p.Thr237Met					CHRNA2_ENST00000240132.2_Missense_Mutation_p.T222M|CHRNA2_ENST00000520933.2_Missense_Mutation_p.T237M	p.T237M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	6	1318	-		Ovarian(32;2.61e-05)	237					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.710C>T	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153624	0.78114	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79749	-1.3;-1.3;-1.3	4.97	4.02	0.46733	Neurotransmitter-gated ion-channel ligand-binding (3);	0.247838	0.41938	N	0.000796	T	0.81635	0.4864	M	0.64630	1.985	0.40443	D	0.980066	D;D	0.59357	0.985;0.97	P;P	0.54372	0.75;0.75	T	0.82750	-0.0303	10	0.87932	D	0	.	5.904	0.18982	0.2039:0.0:0.7961:0.0	.	222;237	B4DK19;Q15822	.;ACHA2_HUMAN	M	237;237;222	ENSP00000385026:T237M;ENSP00000429616:T237M;ENSP00000240132:T222M	ENSP00000240132:T222M	T	-	2	0	CHRNA2	27377167	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	6.280000	0.72626	2.590000	0.87494	0.561000	0.74099	ACG		0.592	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			29	35	0	0	0	1	0	29	35				
TRGV2	6974	broad.mit.edu	37	7	38403015	38403015	+	RNA	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:38403015G>A	ENST00000426402.2	-	0	104									T cell receptor gamma variable 2																		CACTCAACAAGGAAGTGATCC	0.527																																						ENST00000426402.2																			0																																																			0							g.chr7:38403015G>A	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38403015G>A														0	104	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.527	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		4	31	0	0	0	1	0	4	31				
KIAA1551	55196	broad.mit.edu	37	12	32138280	32138280	+	Missense_Mutation	SNP	C	C	T	rs201030838		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:32138280C>T	ENST00000312561.4	+	4	4805	c.4391C>T	c.(4390-4392)tCg>tTg	p.S1464L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1464								p.S1464L(1)									AATAAAGCATCGAAGAAAATC	0.373																																						ENST00000312561.4																			1	Substitution - Missense(1)	p.S1464L(1)	large_intestine(1)								c.(4390-4392)tCg>tTg		KIAA1551		C	LEU/SER	0,4404		0,0,2202	59.0	63.0	62.0		4391	2.1	0.0	12		62	1,8597		0,1,4298	no	missense	C12orf35	NM_018169.3	145	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	1464/1748	32138280	1,13001	2202	4299	6501	SO:0001583	missense	55196							g.chr12:32138280C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4391C>T	12.37:g.32138280C>T	ENSP00000310338:p.Ser1464Leu					KIAA1551_ENST00000535596.1_Intron	p.S1464L	NM_018169.3	NP_060639.3					4	4805	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4391C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084266	0.20309	0.0	1.16E-4	ENSG00000174718	ENST00000312561	T	0.14893	2.47	5.06	2.13	0.27403	.	0.750787	0.11771	N	0.531095	T	0.07773	0.0195	N	0.11756	0.17	0.09310	N	1	B	0.21688	0.059	B	0.15052	0.012	T	0.38972	-0.9636	9	.	.	.	.	4.202	0.10471	0.1577:0.4981:0.0:0.3442	.	1464	Q9HCM1	CL035_HUMAN	L	1464	ENSP00000310338:S1464L	.	S	+	2	0	C12orf35	32029547	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.304000	0.19228	0.600000	0.29862	0.557000	0.71058	TCG		0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	67	0	0	0	1	0	5	67				
FAT3	120114	broad.mit.edu	37	11	92523240	92523240	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:92523240G>C	ENST00000298047.6	+	7	4484	c.4467G>C	c.(4465-4467)gaG>gaC	p.E1489D	FAT3_ENST00000409404.2_Missense_Mutation_p.E1489D|FAT3_ENST00000525166.1_Missense_Mutation_p.E1339D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1489	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAGAGATGAGAAGCACAAGC	0.493										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4465-4467)gaG>gaC		FAT atypical cadherin 3							187.0	181.0	183.0					11																	92523240		2089	4238	6327	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523240G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4467G>C	11.37:g.92523240G>C	ENSP00000298047:p.Glu1489Asp	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.E1339D|FAT3_ENST00000409404.2_Missense_Mutation_p.E1489D	p.E1489D			Q8TDW7	FAT3_HUMAN			7	4484	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1489			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4467G>C		.	.	.	.	.	.	.	.	.	.	G	20.6	4.023913	0.75390	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.38560	1.13;1.13;1.13	6.17	5.09	0.68999	.	.	.	.	.	T	0.57373	0.2049	M	0.73430	2.235	0.80722	D	1	D	0.61697	0.99	P	0.59487	0.858	T	0.57195	-0.7853	9	0.51188	T	0.08	.	10.3919	0.44175	0.1772:0.0:0.8228:0.0	.	1489	Q8TDW7-3	.	D	1489;1489;1339	ENSP00000298047:E1489D;ENSP00000387040:E1489D;ENSP00000432586:E1339D	ENSP00000298047:E1489D	E	+	3	2	FAT3	92162888	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.002000	0.57053	2.941000	0.99782	0.655000	0.94253	GAG		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		42	114	0	0	0	1	0	42	114				
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	lincRNA	DEL	AAT	AAT	-	rs374889577|rs71803374	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:16945182_16945184delAAT	ENST00000412962.1	-	0	2335_2337				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TACTGATGAAAATAATAACAGAT	0.325														915	0.182708	0.1906	0.2853	5008	,	,		89095	0.0278		0.2157	False		,,,				2504	0.2249					ENST00000412962.1																			0																																																			0							g.chr1:16945182_16945184delAAT	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.16945185_16945187delAAT														0	2335_2337	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.325	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	5						3	5	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17035376	17035377	+	RNA	INS	-	-	CA	rs143082525	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:17035376_17035377insCA	ENST00000492551.1	-	0	194					NR_026567.1				espin pseudogene																		gcatgacctgtcatgcttggtt	0.559														120	0.0239617	0.0333	0.0346	5008	,	,		42085	0.0		0.0398	False		,,,				2504	0.0123					ENST00000492551.1																			0																																																			0							g.chr1:17035376_17035377insCA	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17035377_17035378dupCA								NR_026567.1						0	194	-									RNA	INS	ENST00000492551.1	37																																																																																						0.559	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	6						3	6	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	TTC	-	rs201907823	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:195447912_195447914delTTC	ENST00000447234.2	+	1	160_162	c.34_36delTTC	c.(34-36)ttcdel	p.F14del	MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000320736.6_In_Frame_Del_p.F14del|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	14					activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCCCCTTTTCTTCTTCTGCT	0.611														210	0.0419329	0.1104	0.0202	5008	,	,		38073	0.0		0.0149	False		,,,				2504	0.0358					ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(34-36)del		mucin 20, cell surface associated				386,3300		8,370,1465						1.6	0.2			59	120,7760		1,118,3821	no	coding	MUC20	NM_152673.2		9,488,5286	A1A1,A1R,RR		1.5228,10.4721,4.3749				506,11060				SO:0001651	inframe_deletion	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195447912_195447914delTTC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.34_36delTTC	3.37:g.195447918_195447920delTTC	ENSP00000414350:p.Phe14del					MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000447234.2_In_Frame_Del_p.F14del|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del	p.F14del	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	1	160_162	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	14					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	In_Frame_Del	DEL	ENST00000447234.2	37	c.34_36delTTC																																																																																					0.611	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		5	10						5	10	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-	rs548021046	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		3	3						3	3	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	448						9	448	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145000951	145000953	+	Splice_Site	DEL	CCT	CCT	-			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:145000951_145000953delCCT	ENST00000322810.4	-	30	4623_4625	c.4454_4456delAGG	c.(4453-4458)gagggg>ggg	p.E1485del	PLEC_ENST00000345136.3_Splice_Site_p.E1348del|PLEC_ENST00000436759.2_Splice_Site_p.E1375del|PLEC_ENST00000398774.2_Splice_Site_p.E1316del|PLEC_ENST00000357649.2_Splice_Site_p.E1352del|PLEC_ENST00000356346.3_Splice_Site_p.E1334del|PLEC_ENST00000354589.3_Splice_Site_p.E1348del|PLEC_ENST00000527096.1_Splice_Site_p.E1371del|PLEC_ENST00000354958.2_Splice_Site_p.E1326del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1485	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGGCTGTACCTCCTCCTCCTC	0.621																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.e30+1		plectin																																				SO:0001630	splice_region_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145000951_145000953delCCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4455+1AGG>-	8.37:g.145000960_145000962delCCT						PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice|PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice|PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice	p.G1485_splice	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			30	4623_4625	-			1485			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Splice_Site	DEL	ENST00000322810.4	37	c.4455_splice	CCDS43772.1																																																																																				0.621	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	In_Frame_Del	8	286						8	286	---	---	---	---
KLF6	1316	broad.mit.edu	37	10	3822356	3822356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:3822356delT	ENST00000497571.1	-	3	1002	c.742delA	c.(742-744)accfs	p.T248fs	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	248					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTGCCTGGTTAACTCATCA	0.552																																						ENST00000497571.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(742-744)ccfs		Kruppel-like factor 6							217.0	164.0	182.0					10																	3822356		2203	4300	6503	SO:0001589	frameshift_variant	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3822356delT	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.742delA	10.37:g.3822356delT	ENSP00000419923:p.Thr248fs					KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	p.T248fs	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	3	1002	-			248					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Frame_Shift_Del	DEL	ENST00000497571.1	37	c.742delA	CCDS7060.1																																																																																				0.552	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			40	44						40	44	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39608335	39608336	+	Splice_Site	INS	-	-	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr13:39608335_39608336insA	ENST00000352251.3	-	2	879		c.e2-2		PROSER1_ENST00000350125.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1									p.?(1)									CAAAACAGCCTAAAAAAAAAAA	0.327																																						ENST00000352251.3																			1	Unknown(1)	p.?(1)	ovary(1)								c.e2-2		proline and serine rich 1																																				SO:0001630	splice_region_variant	80209							g.chr13:39608335_39608336insA	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.46-2->T	13.37:g.39608346_39608346dupA						PROSER1_ENST00000350125.3_Intron		NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			2	879	-								A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Splice_Site	INS	ENST00000352251.3	37		CCDS9368.2																																																																																				0.327	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	Intron	9	37						9	37	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25462047	25462053	+	RNA	DEL	TGTCCTG	TGTCCTG	-	rs66753758|rs575678130|rs386782164|rs368205899	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:25462047_25462053delTGTCCTG	ENST00000424208.1	+	0	2739				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-25_ENST00000362619.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGATGGCCCTGTCCTGTGTCCTGTGC	0.638														1272	0.253994	0.8359	0.1037	5008	,	,		17859	0.0298		0.0417	False		,,,				2504	0.0235					ENST00000424208.1																			0																																																			0							g.chr15:25462047_25462053delTGTCCTG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25462054_25462060delTGTCCTG								NR_003305.1						0	2739	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.638	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			3	4						3	4	---	---	---	---
LINC00854	100874261	broad.mit.edu	37	17	41381913	41381914	+	RNA	INS	-	-	T	rs386797200|rs11403368|rs71220402	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:41381913_41381914insT	ENST00000433702.2	-	0	14				LINC00854_ENST00000608223.1_RNA|LINC00854_ENST00000600764.1_RNA	NR_047479.1				long intergenic non-protein coding RNA 854																		accctgatctatcatcgggagg	0.55																																						ENST00000433702.2																			0																																																			0							g.chr17:41381913_41381914insT			17q21.31	2013-02-13	2013-02-13	2013-02-13	ENSG00000236383	ENSG00000236383		"""Long non-coding RNAs"""	43658	non-coding RNA	RNA, long non-coding			"""TMEM106A antisense RNA 1 (non-protein coding)"", ""TMEM106A antisense RNA 1"", ""TMEM106A antisense RNA 1 (tail to tail)"""	TMEM106A-AS1		22196729	Standard	NR_047479		Approved		uc031ras.1		OTTHUMG00000132641		17.37:g.41381914_41381914dupT								NR_047479.1						0	14	-									RNA	INS	ENST00000433702.2	37																																																																																						0.550	LINC00854-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000255889.2			7	35						7	35	---	---	---	---
ZNF726	730087	broad.mit.edu	37	19	24118091	24118092	+	Frame_Shift_Del	DEL	CT	CT	-	rs139861178	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:24118091_24118092delCT	ENST00000322487.7	+	7	2117_2118	c.2032_2033delCT	c.(2032-2034)ctcfs	p.L678fs	ZNF726_ENST00000575986.1_Intron|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000334589.5_Intron			A6NNF4	ZN726_HUMAN	zinc finger protein 726	678					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)										TGGAGTAAAACTCTACAAATGT	0.381														8	0.00159744	0.0061	0.0	5008	,	,		19327	0.0		0.0	False		,,,				2504	0.0					ENST00000322487.7																			0											c.(2032-2034)cfs		zinc finger protein 726																																				SO:0001589	frameshift_variant	730087				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr19:24118091_24118092delCT	DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000322487.7:c.2032_2033delCT	19.37:g.24118093_24118094delCT	ENSP00000317125:p.Leu678fs					ZNF726_ENST00000334589.5_Intron|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Intron	p.L678fs			E9PLI7	E9PLI7_HUMAN			7	2117_2118	+			0					M0R0X8|Q86Y87	Frame_Shift_Del	DEL	ENST00000322487.7	37	c.2032_2033delCT																																																																																					0.381	ZNF726-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_001715134		8	7						8	7	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11093134	11093135	+	RNA	INS	-	-	C	rs61073561|rs139629046|rs397730308	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:11093134_11093135insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTCTCCCCTACCCCCCACAAC	0.401													cccccc|CCCCCC|CCCCCCC|insertion	1921	0.383586	0.3101	0.4452	5008	,	,		116667	0.3661		0.4732	False		,,,				2504	0.365					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11093134_11093135insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11093140_11093140dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.401	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	10						7	10	---	---	---	---
