#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
GRIK1	2897	broad.mit.edu	37	21	31045468	31045468	+	Silent	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:31045468T>C	ENST00000399907.1	-	4	972	c.561A>G	c.(559-561)caA>caG	p.Q187Q	GRIK1_ENST00000389124.2_Silent_p.Q187Q|GRIK1_ENST00000309434.7_Silent_p.Q187Q|GRIK1_ENST00000399913.1_Silent_p.Q187Q|GRIK1_ENST00000327783.4_Silent_p.Q187Q|GRIK1_ENST00000535441.1_Silent_p.Q187Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Silent_p.Q187Q|GRIK1_ENST00000399909.1_Silent_p.Q187Q|GRIK1_ENST00000399914.1_Silent_p.Q187Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	187					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGATGAGCTCTTGTAGACGAA	0.393																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(559-561)caA>caG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						72.0	74.0	73.0					21																	31045468		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31045468T>C		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.561A>G	21.37:g.31045468T>C						GRIK1_ENST00000399907.1_Silent_p.Q187Q|GRIK1_ENST00000389124.2_Silent_p.Q187Q|GRIK1_ENST00000389125.3_Silent_p.Q187Q|GRIK1_ENST00000399909.1_Silent_p.Q187Q|GRIK1_ENST00000535441.1_Silent_p.Q187Q|GRIK1_ENST00000327783.4_Silent_p.Q187Q|GRIK1_ENST00000309434.7_Silent_p.Q187Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Silent_p.Q187Q	p.Q187Q			P39086	GRIK1_HUMAN			4	1082	-			187					Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.561A>G	CCDS42913.1																																																																																				0.393	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			11	26	0	0	0	1	0	11	26				
CDK11A	728642	broad.mit.edu	37	1	1650883	1650883	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650883T>C	ENST00000378633.1	-	4	318	c.239A>G	c.(238-240)gAt>gGt	p.D80G	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Missense_Mutation_p.D80G|CDK11A_ENST00000358779.5_Missense_Mutation_p.D80G|CDK11A_ENST00000404249.3_Missense_Mutation_p.D80G|CDK11A_ENST00000378638.2_Missense_Mutation_p.D46G|CDK11A_ENST00000378635.3_Missense_Mutation_p.D80G|CDK11A_ENST00000356200.3_Missense_Mutation_p.D46G			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	80	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCC	0.388																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(136-138)gAt>gGt		cyclin-dependent kinase 11A							251.0	238.0	242.0					1																	1650883		1908	4122	6030	SO:0001583	missense	728642							g.chr1:1650883T>C	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.239A>G	1.37:g.1650883T>C	ENSP00000367900:p.Asp80Gly					CDK11A_ENST00000358779.5_Missense_Mutation_p.D80G|CDK11A_ENST00000357760.2_Missense_Mutation_p.D80G|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.D80G|CDK11A_ENST00000378638.2_Missense_Mutation_p.D46G|CDK11A_ENST00000404249.3_Missense_Mutation_p.D80G|CDK11A_ENST00000378635.3_Missense_Mutation_p.D80G	p.D46G							3	371	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.137A>G		.	.	.	.	.	.	.	.	.	.	-	18.63	3.665915	0.67700	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.3	5.3	0.74995	.	0.141573	0.45361	U	0.000378	T	0.27349	0.0671	L	0.36672	1.1	0.53005	D	0.99996	B;D;P;P;D;P;D;D;D;D;D	0.71674	0.072;0.958;0.603;0.92;0.997;0.59;0.987;0.992;0.995;0.998;0.995	B;P;B;P;D;B;P;D;D;D;D	0.70487	0.056;0.549;0.399;0.623;0.915;0.308;0.809;0.959;0.942;0.969;0.943	T	0.01356	-1.1376	10	0.62326	D	0.03	.	14.4664	0.67488	0.0:0.0:0.0:1.0	.	80;80;80;80;80;80;46;80;80;46;80	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	G	46;80;80;80;80;46;46;80;80	ENSP00000348529:D46G;ENSP00000384442:D80G;ENSP00000350403:D80G;ENSP00000351629:D80G;ENSP00000367900:D80G;ENSP00000367905:D46G;ENSP00000367902:D80G;ENSP00000423900:D80G	ENSP00000348529:D46G	D	-	2	0	CDK11A	1640743	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.157000	0.77461	1.995000	0.58328	0.533000	0.62120	GAT		0.388	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		35	185	0	0	0	1	0	35	185				
SLC10A7	84068	broad.mit.edu	37	4	147204390	147204390	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:147204390G>A	ENST00000507030.1	-	10	800	c.801C>T	c.(799-801)gaC>gaT	p.D267D	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000432059.2_Silent_p.D254D|SLC10A7_ENST00000335472.7_Silent_p.D267D|SLC10A7_ENST00000394062.3_Silent_p.D267D			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	267					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TAGCCACTGTGTCTGCTGGTG	0.338																																						ENST00000432059.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16						c.(760-762)gaC>gaT		solute carrier family 10, member 7							96.0	96.0	96.0					4																	147204390		2203	4300	6503	SO:0001819	synonymous_variant	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147204390G>A	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.801C>T	4.37:g.147204390G>A						SLC10A7_ENST00000335472.7_Silent_p.D267D|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000507030.1_Silent_p.D267D|SLC10A7_ENST00000394062.3_Silent_p.D267D	p.D254D			Q0GE19	NTCP7_HUMAN			9	1008	-	all_hematologic(180;0.151)		267					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Silent	SNP	ENST00000507030.1	37	c.762C>T	CCDS34073.1																																																																																				0.338	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		9	7	0	0	0	1	0	9	7				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		8	122	1	0	0.000442599	1	0.000481652	8	122				
UGT1A7	54577	broad.mit.edu	37	2	234590591	234590591	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:234590591G>A	ENST00000373426.3	+	1	8	c.8G>A	c.(7-9)cGt>cAt	p.R3H	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	3					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CTGATGGCTCGTGCAGGGTGG	0.527											OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(7-9)cGt>cAt									122.0	120.0	121.0					2																	234590591		2203	4300	6503	SO:0001583	missense	0							g.chr2:234590591G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.8G>A	2.37:g.234590591G>A	ENSP00000362525:p.Arg3His		OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2374	UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	p.R3H	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	8	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.8G>A	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547073	0.27652	.	.	ENSG00000244122	ENST00000373426	T	0.60424	0.19	4.51	2.58	0.30949	.	.	.	.	.	T	0.43322	0.1242	N	0.24115	0.695	0.09310	N	1	P;P	0.34412	0.453;0.453	B;B	0.30401	0.115;0.115	T	0.37820	-0.9689	9	0.59425	D	0.04	.	13.7686	0.63010	0.0:0.7029:0.2971:0.0	.	3;3	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	H	3	ENSP00000362525:R3H	ENSP00000362525:R3H	R	+	2	0	UGT1A7	234255330	0.001000	0.12720	0.028000	0.17463	0.021000	0.10359	0.064000	0.14437	1.110000	0.41699	-0.540000	0.04249	CGT		0.527	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		52	51	0	0	0	1	0	52	51				
SLC12A5	57468	broad.mit.edu	37	20	44682317	44682317	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:44682317G>A	ENST00000454036.2	+	20	2766	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R883H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	906					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.R883H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TATCATTTACGCATCACTGCG	0.547																																						ENST00000454036.1																			1	Substitution - Missense(1)	p.R883H(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2716-2718)cGc>cAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						225.0	188.0	201.0					20																	44682317		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44682317G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2717G>A	20.37:g.44682317G>A	ENSP00000387694:p.Arg906His					SLC12A5_ENST00000243964.3_Missense_Mutation_p.R883H	p.R906H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			20	2793	+		Myeloproliferative disorder(115;0.0122)	906					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2717G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107584	0.77096	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.85013	-1.93;-1.93	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.88181	2.935	0.80722	D	1	P;D	0.53619	0.935;0.961	B;P	0.45913	0.42;0.497	D	0.91990	0.5602	10	0.87932	D	0	.	15.7924	0.78376	0.0:0.0:1.0:0.0	.	906;883	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	906;883	ENSP00000387694:R906H;ENSP00000243964:R883H	ENSP00000243964:R883H	R	+	2	0	SLC12A5	44115724	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	9.541000	0.98083	2.192000	0.70111	0.491000	0.48974	CGC		0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			63	116	0	0	0	1	0	63	116				
ALKBH2	121642	broad.mit.edu	37	12	109526301	109526301	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:109526301C>G	ENST00000429722.2	-	4	859	c.496G>C	c.(496-498)Gac>Cac	p.D166H	ALKBH2_ENST00000343075.3_Missense_Mutation_p.D166H|ALKBH2_ENST00000440112.2_Silent_p.V99V	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	166	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCGATGTGGTCACAGCCATCT	0.532								Direct reversal of damage																														ENST00000429722.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(496-498)Gac>Cac	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						65.0	71.0	69.0					12																	109526301		2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526301C>G	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.496G>C	12.37:g.109526301C>G	ENSP00000398181:p.Asp166His					ALKBH2_ENST00000343075.3_Missense_Mutation_p.D166H|ALKBH2_ENST00000440112.2_Silent_p.V99V	p.D166H	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN			4	859	-			166			Fe2OG dioxygenase.		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.496G>C	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217565	0.79352	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370	T;T	0.19669	2.13;2.13	5.64	5.64	0.86602	Oxoglutarate/iron-dependent oxygenase (2);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52593	-0.8555	9	0.87932	D	0	-37.8812	18.6862	0.91565	0.0:1.0:0.0:0.0	.	166	Q6NS38	ALKB2_HUMAN	H	166	ENSP00000398181:D166H;ENSP00000343021:D166H	ENSP00000343021:D166H	D	-	1	0	ALKBH2	108010684	1.000000	0.71417	0.959000	0.39883	0.755000	0.42902	7.083000	0.76859	2.652000	0.90054	0.655000	0.94253	GAC		0.532	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		13	104	0	0	0	1	0	13	104				
BZRAP1	9256	broad.mit.edu	37	17	56382951	56382951	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:56382951C>T	ENST00000343736.4	-	28	5474	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1711T|BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1771T			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1771	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAATGCAGCCACCATGGAG	0.602																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(5311-5313)Gct>Act		benzodiazapine receptor (peripheral) associated protein 1							22.0	27.0	26.0					17																	56382951		2203	4298	6501	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56382951C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5311G>A	17.37:g.56382951C>T	ENSP00000345824:p.Ala1771Thr					BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1711T|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1771T	p.A1771T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			28	6181	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1771			SH3 3.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.5311G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475219	0.63737	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.55413	0.52;0.52;0.52	5.29	5.29	0.74685	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	M	0.91354	3.2	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.84155	0.0425	10	0.87932	D	0	.	17.5178	0.87779	0.0:1.0:0.0:0.0	.	1762;1711;1771	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	T	1771;1771;1711	ENSP00000347929:A1771T;ENSP00000345824:A1771T;ENSP00000268893:A1711T	ENSP00000268893:A1711T	A	-	1	0	BZRAP1	53737950	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.045000	0.76585	2.470000	0.83445	0.462000	0.41574	GCT		0.602	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		10	7	0	0	0	1	0	10	7				
PRDM1	639	broad.mit.edu	37	6	106553302	106553302	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:106553302A>C	ENST00000369096.4	+	5	1501	c.1267A>C	c.(1267-1269)Aat>Cat	p.N423H	PRDM1_ENST00000369089.3_Missense_Mutation_p.N289H|PRDM1_ENST00000369091.2_Missense_Mutation_p.N387H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	423					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CATGAATTGTAATGGCCTGAG	0.602			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1267-1269)Aat>Cat		PR domain containing 1, with ZNF domain							74.0	58.0	64.0					6																	106553302		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553302A>C		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1267A>C	6.37:g.106553302A>C	ENSP00000358092:p.Asn423His					PRDM1_ENST00000369089.3_Missense_Mutation_p.N289H|PRDM1_ENST00000369091.2_Missense_Mutation_p.N387H	p.N423H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1501	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	423					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1267A>C	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216878	0.39201	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07908	3.17;3.15;3.18	5.74	4.57	0.56435	.	0.242171	0.48767	D	0.000169	T	0.06781	0.0173	M	0.63428	1.95	0.22737	N	0.998791	P;D	0.57257	0.94;0.979	P;P	0.52189	0.664;0.692	T	0.25047	-1.0143	10	0.18276	T	0.48	-22.5885	12.3789	0.55295	0.8592:0.1408:0.0:0.0	.	289;423	Q86WM7;O75626	.;PRDM1_HUMAN	H	387;423;387;289	ENSP00000358087:N387H;ENSP00000358092:N423H;ENSP00000358085:N289H	ENSP00000358085:N289H	N	+	1	0	PRDM1	106659995	1.000000	0.71417	0.198000	0.23420	0.676000	0.39594	4.529000	0.60588	0.984000	0.38629	0.533000	0.62120	AAT		0.602	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			80	431	0	0	0	1	0	80	431				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		139	Substitution - Missense(138)|Unknown(1)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)Cgc>Ggc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2742	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			49	33	0	0	0	1	0	49	33				
RIF1	55183	broad.mit.edu	37	2	152321302	152321302	+	Silent	SNP	C	C	T	rs553538022		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:152321302C>T	ENST00000243326.5	+	29	5751	c.5268C>T	c.(5266-5268)gaC>gaT	p.D1756D	RIF1_ENST00000430328.2_Silent_p.D1756D|RIF1_ENST00000453091.2_Silent_p.D1756D|RIF1_ENST00000428287.2_Silent_p.D1756D|RIF1_ENST00000444746.2_Silent_p.D1756D			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATAATGACGTAGAGATTA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		18457	0.0		0.001	False		,,,				2504	0.0					ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(5266-5268)gaC>gaT		RAP1 interacting factor homolog (yeast)							52.0	53.0	53.0					2																	152321302		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321302C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5268C>T	2.37:g.152321302C>T						RIF1_ENST00000430328.2_Silent_p.D1756D|RIF1_ENST00000444746.2_Silent_p.D1756D|RIF1_ENST00000428287.2_Silent_p.D1756D|RIF1_ENST00000453091.2_Silent_p.D1756D	p.D1756D			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	5751	+			1756					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.5268C>T	CCDS2194.1																																																																																				0.393	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			10	36	0	0	0	1	0	10	36				
FXR1	8087	broad.mit.edu	37	3	180688077	180688077	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:180688077G>A	ENST00000357559.4	+	15	1918	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	FXR1_ENST00000468861.1_Missense_Mutation_p.D427N|FXR1_ENST00000445140.2_Missense_Mutation_p.D512N|FXR1_ENST00000491062.1_Missense_Mutation_p.D463N|FXR1_ENST00000480918.1_Missense_Mutation_p.D499N|FXR1_ENST00000305586.7_Missense_Mutation_p.D427N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	512					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACGAAGGACTGATGAAGATGC	0.423																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(1534-1536)Gat>Aat		fragile X mental retardation, autosomal homolog 1							133.0	114.0	120.0					3																	180688077		2203	4300	6503	SO:0001583	missense	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180688077G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1534G>A	3.37:g.180688077G>A	ENSP00000350170:p.Asp512Asn					FXR1_ENST00000468861.1_Missense_Mutation_p.D427N|FXR1_ENST00000305586.7_Missense_Mutation_p.D427N|FXR1_ENST00000480918.1_Missense_Mutation_p.D499N|FXR1_ENST00000491062.1_Missense_Mutation_p.D463N|FXR1_ENST00000445140.2_Missense_Mutation_p.D512N	p.D512N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		15	1918	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		512					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1534G>A	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624975	0.96660	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.53423	1.59;1.39;0.65;0.63;0.62;1.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.993	D;D;D;D;D;D	0.91635	0.997;0.998;0.998;0.995;0.999;0.977	T	0.68515	-0.5388	10	0.66056	D	0.02	-35.2159	20.3011	0.98612	0.0:0.0:1.0:0.0	.	499;463;427;456;512;512	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	N	512;427;463;427;512;499	ENSP00000350170:D512N;ENSP00000307633:D427N;ENSP00000420643:D463N;ENSP00000420515:D427N;ENSP00000388828:D512N;ENSP00000418097:D499N	ENSP00000307633:D427N	D	+	1	0	FXR1	182170771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.804000	0.96469	0.650000	0.86243	GAT		0.423	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			19	41	0	0	0	1	0	19	41				
GMDS	2762	broad.mit.edu	37	6	1961068	1961068	+	Missense_Mutation	SNP	C	C	G	rs199870515		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:1961068C>G	ENST00000380815.4	-	5	747	c.478G>C	c.(478-480)Ggg>Cgg	p.G160R	GMDS_ENST00000530927.1_Missense_Mutation_p.G130R	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	160					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGCACTTTCCCATAAAGTTCA	0.502																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(478-480)Ggg>Cgg		GDP-mannose 4,6-dehydratase							160.0	160.0	160.0					6																	1961068		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1961068C>G	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.478G>C	6.37:g.1961068C>G	ENSP00000370194:p.Gly160Arg					GMDS_ENST00000530927.1_Missense_Mutation_p.G130R	p.G160R	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	5	747	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	160					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.478G>C	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619911	0.87460	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.95137	-3.62;-3.62	5.26	5.26	0.73747	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99774	1.1025	10	0.87932	D	0	-17.649	18.8773	0.92343	0.0:1.0:0.0:0.0	.	160	O60547	GMDS_HUMAN	R	130;160	ENSP00000436726:G130R;ENSP00000370194:G160R	ENSP00000370194:G160R	G	-	1	0	GMDS	1906067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.458000	0.83093	0.655000	0.94253	GGG		0.502	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			28	66	0	0	0	1	0	28	66				
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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"""		54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(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	CD043957|CS011574|CS083991	TP53	D|S		c.e6-1	Other conserved DNA damage response genes	tumor protein p53							82.0	74.0	76.0					17																	7578290		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7578290C>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.560-1G>A	17.37:g.7578290C>T		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_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		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)	6	692	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	30	4	0	0	0	1	0	30	4				
IGKV1-17	28937	broad.mit.edu	37	2	89416874	89416874	+	RNA	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:89416874C>A	ENST00000490686.1	-	0	336									immunoglobulin kappa variable 1-17																		GTTGCAAAATCTTCAGGCTGC	0.502																																						ENST00000490686.1																			0																				51.0	58.0	56.0					2																	89416874		1809	4037	5846			0							g.chr2:89416874C>A	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89416874C>A														0	336	-									RNA	SNP	ENST00000490686.1	37																																																																																						0.502	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		30	109	1	0	1.22384e-17	1	1.43752e-17	30	109				
DNAH2	146754	broad.mit.edu	37	17	7702525	7702525	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7702525C>T	ENST00000572933.1	+	56	10124	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I	DNAH2_ENST00000389173.2_Silent_p.I2888I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2888	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTGCACATCGTGCTCTGCC	0.592																																						ENST00000572933.1																			1	Substitution - coding silent(1)	p.I2888I(1)	large_intestine(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8662-8664)atC>atT		dynein, axonemal, heavy chain 2							109.0	87.0	95.0					17																	7702525		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702525C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8664C>T	17.37:g.7702525C>T						DNAH2_ENST00000389173.2_Silent_p.I2888I	p.I2888I			Q9P225	DYH2_HUMAN			56	10124	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2888			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.8664C>T	CCDS32551.1																																																																																				0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		38	2	0	0	0	1	0	38	2				
SDF2	6388	broad.mit.edu	37	17	26976153	26976153	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:26976153C>T	ENST00000247020.4	-	3	788	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	164	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CCATATTGTTCTCCTGTGACA	0.507																																						ENST00000247020.4																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(490-492)Gaa>Aaa		stromal cell-derived factor 2							204.0	170.0	182.0					17																	26976153		2203	4300	6503	SO:0001583	missense	6388				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	g.chr17:26976153C>T	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.490G>A	17.37:g.26976153C>T	ENSP00000247020:p.Glu164Lys					SDF2_ENST00000592250.1_5'UTR	p.E164K	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN			3	788	-	Lung NSC(42;0.00431)		164			MIR 3.		Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	37	c.490G>A	CCDS11238.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261438	0.80358	.	.	ENSG00000132581	ENST00000247020	D	0.86497	-2.13	5.64	5.64	0.86602	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	N	0.17872	0.535	0.80722	D	1	B	0.27594	0.182	B	0.37091	0.241	T	0.74179	-0.3749	10	0.02654	T	1	-16.3408	20.1418	0.98058	0.0:1.0:0.0:0.0	.	164	Q99470	SDF2_HUMAN	K	164	ENSP00000247020:E164K	ENSP00000247020:E164K	E	-	1	0	SDF2	24000280	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.435000	0.80391	2.831000	0.97527	0.644000	0.83932	GAA		0.507	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		18	52	0	0	0	1	0	18	52				
FREM2	341640	broad.mit.edu	37	13	39451347	39451347	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:39451347T>C	ENST00000280481.7	+	21	8854	c.8638T>C	c.(8638-8640)Ttc>Ctc	p.F2880L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2880					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCCATGGGATTCGGGCAAGA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8638-8640)Ttc>Ctc		FRAS1 related extracellular matrix protein 2							359.0	322.0	334.0					13																	39451347		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451347T>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8638T>C	13.37:g.39451347T>C	ENSP00000280481:p.Phe2880Leu						p.F2880L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8854	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2880					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8638T>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759067	0.49468	.	.	ENSG00000150893	ENST00000280481	T	0.65364	-0.15	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.66939	2.045	0.80722	D	1	B	0.27951	0.195	B	0.29267	0.1	T	0.57688	-0.7768	10	0.10902	T	0.67	.	16.3593	0.83251	0.0:0.0:0.0:1.0	.	2880	Q5SZK8	FREM2_HUMAN	L	2880	ENSP00000280481:F2880L	ENSP00000280481:F2880L	F	+	1	0	FREM2	38349347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.267000	0.75376	0.383000	0.25322	TTC		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		80	94	0	0	0	1	0	80	94				
ZNF717	100131827	broad.mit.edu	37	3	75790814	75790814	+	Missense_Mutation	SNP	C	C	T	rs200578600		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:75790814C>T	ENST00000477374.1	-	3	302	c.131G>A	c.(130-132)aGg>aAg	p.R44K	ZNF717_ENST00000400845.3_Missense_Mutation_p.R37K|ZNF717_ENST00000422325.1_Missense_Mutation_p.R44K|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	37	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GTACAGGGTCCTCTGAGCATC	0.522																																						ENST00000422325.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(130-132)aGg>aAg		zinc finger protein 717							26.0	19.0	21.0					3																	75790814		461	1282	1743	SO:0001583	missense	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790814C>T	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.131G>A	3.37:g.75790814C>T	ENSP00000417902:p.Arg44Lys					ZNF717_ENST00000400845.3_Missense_Mutation_p.R37K|ZNF717_ENST00000477374.1_Missense_Mutation_p.R44K|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR	p.R44K	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN			3	453	-			44						Missense_Mutation	SNP	ENST00000477374.1	37	c.131G>A		.	.	.	.	.	.	.	.	.	.	.	0.016	-1.522747	0.00967	.	.	ENSG00000227124	ENST00000477374;ENST00000422325;ENST00000400845;ENST00000468296	T;T;T;T	0.01685	4.69;4.69;4.69;4.69	1.97	-0.08	0.13708	.	.	.	.	.	T	0.01156	0.0038	N	0.16833	0.445	0.24464	N	0.994426	B	0.19445	0.036	B	0.19391	0.025	T	0.49351	-0.8949	9	0.15066	T	0.55	.	4.274	0.10800	0.0:0.6009:0.0:0.3991	.	44	C9JSV9	.	K	44;44;37;44	ENSP00000417902:R44K;ENSP00000409514:R44K;ENSP00000383643:R37K;ENSP00000418187:R44K	ENSP00000383643:R37K	R	-	2	0	ZNF717	75873504	0.003000	0.15002	0.926000	0.36857	0.423000	0.31445	-0.511000	0.06321	-0.176000	0.10707	-0.284000	0.09977	AGG		0.522	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223		2	1	0	0	0	1	0	2	1				
NTRK2	4915	broad.mit.edu	37	9	87635192	87635192	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:87635192G>A	ENST00000323115.4	+	16	2549	c.2196G>A	c.(2194-2196)acG>acA	p.T732T	NTRK2_ENST00000376214.1_Silent_p.T748T|NTRK2_ENST00000376213.1_Silent_p.T732T|NTRK2_ENST00000277120.3_Silent_p.T748T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AATTCACGACGGAAAGCGACG	0.552										TSP Lung(25;0.17)																												ENST00000376214.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(2242-2244)acG>acA		neurotrophic tyrosine kinase, receptor, type 2							139.0	128.0	132.0					9																	87635192		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87635192G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2196G>A	9.37:g.87635192G>A		TSP Lung(25;0.17)				NTRK2_ENST00000376213.1_Silent_p.T732T|NTRK2_ENST00000323115.4_Silent_p.T732T|NTRK2_ENST00000277120.3_Silent_p.T748T	p.T748T	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN			20	3182	+			732			Protein kinase.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.2244G>A	CCDS35050.1																																																																																				0.552	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			46	78	0	0	0	1	0	46	78				
CNTNAP1	8506	broad.mit.edu	37	17	40847636	40847636	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:40847636G>A	ENST00000264638.4	+	19	3307	c.3090G>A	c.(3088-3090)cgG>cgA	p.R1030R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1030					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCTGAGCCGGCCAGTGCCAG	0.622																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3088-3090)cgG>cgA		contactin associated protein 1							46.0	47.0	47.0					17																	40847636		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847636G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3090G>A	17.37:g.40847636G>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.R1030R	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3307	+		Breast(137;0.000143)	1030						Silent	SNP	ENST00000264638.4	37	c.3090G>A	CCDS11436.1																																																																																				0.622	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		6	57	0	0	0	1	0	6	57				
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	SNP	G	G	T	rs201713470	byFrequency	TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602G>T																													9.37:g.41962602G>T								NR_003670.1						0	902	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			5	32	1	0	1.23904e-05	1	1.36849e-05	5	32				
ADAMTS12	81792	broad.mit.edu	37	5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T	rs367793699		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:33658404C>T	ENST00000504830.1	-	7	1410	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	359	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCAGGGTCTCGCAGGGGCGA	0.498										HNSCC(64;0.19)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		19101	0.0		0.0	False		,,,				2504	0.0					ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1075-1077)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 12		C	LYS/GLU	0,4406		0,0,2203	127.0	129.0	128.0		1075	6.2	1.0	5		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS12	NM_030955.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	359/1595	33658404	1,13005	2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658404C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1075G>A	5.37:g.33658404C>T	ENSP00000422554:p.Glu359Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K	p.E359K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			7	1410	-			359			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1075G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756516	0.96898	0.0	1.16E-4	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.86366	-2.11;-2.11	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.044361	0.85682	D	0.000000	D	0.93334	0.7875	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.969;0.997	D	0.92414	0.5940	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	359;359	P58397-3;P58397	.;ATS12_HUMAN	K	359	ENSP00000422554:E359K;ENSP00000344847:E359K	ENSP00000344847:E359K	E	-	1	0	ADAMTS12	33694161	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		19	124	0	0	0	1	0	19	124				
TPTE	7179	broad.mit.edu	37	21	10969073	10969073	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:10969073A>T	ENST00000361285.4	-	7	503		c.e7+1		TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron	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)		TTTATAACTCACCTTTCACTG	0.428																																						ENST00000361285.4																			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.e7+1		transmembrane phosphatase with tensin homology							238.0	221.0	227.0					21																	10969073		2203	4300	6503	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.chr21:10969073A>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.173+1T>A	21.37:g.10969073A>T						TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron		NM_199261.2	NP_954870.2	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)	7	503	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37		CCDS13560.2	.	.	.	.	.	.	.	.	.	.	a	2.579	-0.297841	0.05532	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	.	.	.	0.687	0.687	0.18020	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9990944	0.002000	0.14202	0.004000	0.12327	0.004000	0.04260	1.827000	0.39102	0.559000	0.29153	0.414000	0.27820	.		0.428	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	17	77	0	0	0	1	0	17	77				
HNRNPUL1	11100	broad.mit.edu	37	19	41808612	41808612	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:41808612T>G	ENST00000392006.3	+	12	1903	c.1730T>G	c.(1729-1731)gTt>gGt	p.V577G	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V577G|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V463G|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V488G	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	577	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGGATGAGGTTCTGTTCATT	0.547																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1729-1731)gTt>gGt		heterogeneous nuclear ribonucleoprotein U-like 1							85.0	82.0	83.0					19																	41808612		2203	4299	6502	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41808612T>G	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1730T>G	19.37:g.41808612T>G	ENSP00000375863:p.Val577Gly					HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V488G|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V463G|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V577G	p.V577G	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			12	1903	+			577			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1730T>G	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613431	0.87359	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.63417	-0.04;0.95;0.5;0.51	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.77678	0.4166	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;0.999;1.0;1.0;0.999;0.999;1.0	P;D;D;D;D;D;D	0.91635	0.885;0.993;0.991;0.999;0.973;0.991;0.997	T	0.80410	-0.1394	10	0.87932	D	0	-12.4988	14.3729	0.66854	0.0:0.0:0.0:1.0	.	488;477;577;101;463;577;477	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	G	477;577;463;488	ENSP00000340857:V477G;ENSP00000375863:V577G;ENSP00000367460:V463G;ENSP00000263367:V488G	ENSP00000263367:V488G	V	+	2	0	HNRNPUL1	46500452	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.702000	0.68332	2.288000	0.76882	0.482000	0.46254	GTT		0.547	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		37	52	0	0	0	1	0	37	52				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	64	0	0	0	1	0	5	64				
BRPF1	7862	broad.mit.edu	37	3	9781123	9781123	+	Missense_Mutation	SNP	G	G	T	rs149733062		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:9781123G>T	ENST00000457855.1	+	2	1051	c.1040G>T	c.(1039-1041)cGc>cTc	p.R347L	BRPF1_ENST00000424362.1_Missense_Mutation_p.R347L|BRPF1_ENST00000302054.3_Missense_Mutation_p.R347L|BRPF1_ENST00000433861.2_Missense_Mutation_p.R347L|BRPF1_ENST00000383829.2_Missense_Mutation_p.R347L			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	347					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GATGACGGGCGCTGGGCCCAT	0.607																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1039-1041)cGc>cTc		bromodomain and PHD finger containing, 1							150.0	148.0	149.0					3																	9781123		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9781123G>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1040G>T	3.37:g.9781123G>T	ENSP00000410210:p.Arg347Leu					BRPF1_ENST00000433861.2_Missense_Mutation_p.R347L|BRPF1_ENST00000457855.1_Missense_Mutation_p.R347L|BRPF1_ENST00000424362.1_Missense_Mutation_p.R347L|BRPF1_ENST00000302054.3_Missense_Mutation_p.R347L	p.R347L	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			3	1444	+	Medulloblastoma(99;0.227)		347					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1040G>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887715	0.72410	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	L	0.61387	1.9	0.80722	D	1	D;P;P;D	0.89917	0.999;0.939;0.882;1.0	D;P;P;D	0.79784	0.989;0.584;0.584;0.993	T	0.10268	-1.0637	10	0.72032	D	0.01	.	15.583	0.76459	0.0659:0.0:0.9341:0.0	.	347;347;347;347	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	L	347	ENSP00000402485:R347L;ENSP00000398863:R347L;ENSP00000373340:R347L;ENSP00000306297:R347L;ENSP00000410210:R347L	ENSP00000306297:R347L	R	+	2	0	BRPF1	9756123	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	9.476000	0.97823	1.577000	0.49804	0.655000	0.94253	CGC		0.607	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		7	220	1	0	0.00198382	1	0.00203892	7	220				
HYAL2	8692	broad.mit.edu	37	3	50355733	50355733	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:50355733C>T	ENST00000447092.1	-	3	3541	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000395139.3_Missense_Mutation_p.D417N|HYAL2_ENST00000442581.1_Missense_Mutation_p.D417N|HYAL2_ENST00000357750.4_Missense_Mutation_p.D417N			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	417	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGTCAATGTCGGCCCAACTG	0.612																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(1249-1251)Gac>Aac		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						67.0	64.0	65.0					3																	50355733		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50355733C>T	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.1249G>A	3.37:g.50355733C>T	ENSP00000401853:p.Asp417Asn					HYAL2_ENST00000442581.1_Missense_Mutation_p.D417N|HYAL2_ENST00000395139.3_Missense_Mutation_p.D417N|HYAL2_ENST00000357750.4_Missense_Mutation_p.D417N	p.D417N			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	3541	-			417			EGF-like.		B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.1249G>A	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092622	0.94149	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	6.08	6.08	0.98989	Epidermal growth factor-like (1);	0.088609	0.85682	D	0.000000	T	0.25975	0.0633	M	0.80183	2.485	0.58432	D	0.999999	P	0.42871	0.792	B	0.36030	0.216	T	0.05022	-1.0911	10	0.39692	T	0.17	-39.5642	19.2415	0.93886	0.0:1.0:0.0:0.0	.	417	Q12891	HYAL2_HUMAN	N	417	ENSP00000401853:D417N;ENSP00000350387:D417N;ENSP00000378571:D417N;ENSP00000406657:D417N	ENSP00000350387:D417N	D	-	1	0	HYAL2	50330737	0.999000	0.42202	0.994000	0.49952	0.649000	0.38597	4.779000	0.62375	2.894000	0.99253	0.655000	0.94253	GAC		0.612	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		5	50	0	0	0	1	0	5	50				
SLC2A14	144195	broad.mit.edu	37	12	7982369	7982369	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:7982369A>C	ENST00000543909.1	-	10	1334	c.575T>G	c.(574-576)gTg>gGg	p.V192G	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V207G|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V192G|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V169G|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V169G|SLC2A14_ENST00000535295.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.V83G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	192					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TACCTGGGCCACCAGAATTCC	0.443																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(574-576)gTg>gGg		solute carrier family 2 (facilitated glucose transporter), member 14							54.0	52.0	53.0					12																	7982369		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982369A>C	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.575T>G	12.37:g.7982369A>C	ENSP00000440480:p.Val192Gly					SLC2A14_ENST00000539924.1_Missense_Mutation_p.V207G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V192G|SLC2A14_ENST00000535295.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V169G|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V169G	p.V192G			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1334	-			192					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.575T>G	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	a	14.99	2.701477	0.48307	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.204994	0.42682	D	0.000661	T	0.79381	0.4436	M	0.82193	2.58	0.80722	D	1	B;B;B;B	0.32365	0.231;0.231;0.367;0.231	B;B;B;B	0.37451	0.25;0.25;0.227;0.25	T	0.80430	-0.1386	10	0.87932	D	0	.	9.8101	0.40817	1.0:0.0:0.0:0.0	.	207;83;169;192	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	G	169;192;169;192;83;83;207;169	ENSP00000340450:V169G;ENSP00000440480:V192G;ENSP00000407287:V169G;ENSP00000379834:V192G;ENSP00000440492:V83G;ENSP00000443903:V83G;ENSP00000445929:V207G;ENSP00000440043:V169G	ENSP00000340450:V169G	V	-	2	0	SLC2A14	7873636	1.000000	0.71417	0.995000	0.50966	0.805000	0.45488	8.180000	0.89694	1.174000	0.42811	0.377000	0.23210	GTG		0.443	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		20	30	0	0	0	1	0	20	30				
RXFP2	122042	broad.mit.edu	37	13	32335879	32335879	+	Missense_Mutation	SNP	C	C	T	rs373570227		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:32335879C>T	ENST00000298386.2	+	3	331	c.260C>T	c.(259-261)gCg>gTg	p.A87V	RXFP2_ENST00000380314.1_Missense_Mutation_p.A87V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	87					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGTGGATGGGCGACCATATTT	0.383																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(259-261)gCg>gTg		relaxin/insulin-like family peptide receptor 2		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	142.0	125.0	131.0		260,260	5.0	1.0	13		131	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RXFP2	NM_001166058.1,NM_130806.3	64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	87/731,87/755	32335879	2,13004	2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32335879C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.260C>T	13.37:g.32335879C>T	ENSP00000298386:p.Ala87Val					RXFP2_ENST00000380314.1_Missense_Mutation_p.A87V	p.A87V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	3	331	+		Lung SC(185;0.0262)	87					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.260C>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781304	0.49891	0.0	2.33E-4	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.72394	-0.65;-0.56	5.82	4.97	0.65823	.	0.173700	0.50627	N	0.000118	T	0.67534	0.2903	M	0.64997	1.995	0.39801	D	0.972573	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.66260	-0.5968	10	0.46703	T	0.11	.	13.0644	0.59025	0.0:0.9217:0.0:0.0783	.	87;87	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	V	87	ENSP00000369670:A87V;ENSP00000298386:A87V	ENSP00000298386:A87V	A	+	2	0	RXFP2	31233879	1.000000	0.71417	0.964000	0.40570	0.827000	0.46813	2.794000	0.47853	1.462000	0.47948	0.655000	0.94253	GCG		0.383	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		15	16	0	0	0	1	0	15	16				
FARP2	9855	broad.mit.edu	37	2	242380727	242380727	+	Silent	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:242380727A>C	ENST00000264042.3	+	13	1337	c.1167A>C	c.(1165-1167)tcA>tcC	p.S389S	FARP2_ENST00000373287.4_Silent_p.S389S|FARP2_ENST00000545004.1_Silent_p.S389S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	389					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGAGCATCTCATTCCCCGAGG	0.478																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1165-1167)tcA>tcC		FERM, RhoGEF and pleckstrin domain protein 2							98.0	94.0	95.0					2																	242380727		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242380727A>C	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1167A>C	2.37:g.242380727A>C						FARP2_ENST00000373287.4_Silent_p.S389S|FARP2_ENST00000545004.1_Silent_p.S389S	p.S389S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	13	1337	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	389					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.1167A>C	CCDS33424.1																																																																																				0.478	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			24	32	0	0	0	1	0	24	32				
MYC	4609	broad.mit.edu	37	8	128753004	128753004	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:128753004T>C	ENST00000377970.2	+	3	1675	c.1165T>C	c.(1165-1167)Ttt>Ctt	p.F389L	MYC_ENST00000524013.1_Missense_Mutation_p.F388L	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	374	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AAAACGGAGCTTTTTTGCCCT	0.522		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""																																	ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(1165-1167)Ttt>Ctt		v-myc avian myelocytomatosis viral oncogene homolog							117.0	129.0	125.0					8																	128753004		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128753004T>C		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1165T>C	8.37:g.128753004T>C	ENSP00000367207:p.Phe389Leu					MYC_ENST00000524013.1_Missense_Mutation_p.F388L	p.F389L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	1675	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	374			Helix-loop-helix motif.		A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	c.1165T>C	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	T	33	5.232656	0.95207	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	D;D	0.90261	-2.64;-2.64	5.39	5.39	0.77823	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95191	0.8441	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95747	0.8788	10	0.87932	D	0	-10.8988	14.5824	0.68300	0.0:0.0:0.0:1.0	.	374	P01106	MYC_HUMAN	L	389;388;355	ENSP00000367207:F389L;ENSP00000430235:F388L	ENSP00000367207:F389L	F	+	1	0	MYC	128822186	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.036000	0.88901	2.038000	0.60285	0.528000	0.53228	TTT		0.522	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			119	132	0	0	0	1	0	119	132				
MT-CO3	4514	broad.mit.edu	37	M	9881	9881	+	Silent	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrM:9881T>C	ENST00000362079.2	+	1	675	c.675T>C	c.(673-675)ttT>ttC	p.F225F	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TH_ENST00000387441.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	225					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CAACTAATATTTCACTTTACA	0.428																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(673-675)ttT>ttC		mitochondrially encoded cytochrome c oxidase III																																				SO:0001819	synonymous_variant	4514							g.chrM:9881T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.675T>C	M.37:g.9881T>C							p.225_225insF							1	675	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.675T>C																																																																																					0.428	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		19	91	0	0	0	1	0	19	91				
MEI1	150365	broad.mit.edu	37	22	42128268	42128268	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:42128268G>A	ENST00000401548.3	+	10	1156	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Silent_p.R112R	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGTGGTGAGGAGCCTGCAGG	0.557																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1114-1116)agG>agA		meiosis inhibitor 1							54.0	59.0	58.0					22																	42128268		2080	4210	6290	SO:0001819	synonymous_variant	150365						binding	g.chr22:42128268G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1116G>A	22.37:g.42128268G>A						MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Silent_p.R112R|MEI1_ENST00000300398.4_5'UTR	p.R372R	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			10	1156	+			372						Silent	SNP	ENST00000401548.3	37	c.1116G>A	CCDS46718.1																																																																																				0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		11	1	0	0	0	1	0	11	1				
ZNF512B	57473	broad.mit.edu	37	20	62598842	62598842	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:62598842G>A	ENST00000450537.1	-	3	216	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ZNF512B_ENST00000217130.3_Silent_p.P52P|ZNF512B_ENST00000369888.1_Silent_p.P52P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGCCTGGCCGGGCACTGTCT	0.637																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(154-156)ccC>ccT		zinc finger protein 512B							90.0	96.0	94.0					20																	62598842		2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598842G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.156C>T	20.37:g.62598842G>A						ZNF512B_ENST00000369888.1_Silent_p.P52P|ZNF512B_ENST00000217130.3_Silent_p.P52P	p.P52P			Q96KM6	Z512B_HUMAN			3	216	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		52					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.156C>T	CCDS13548.1																																																																																				0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		119	104	0	0	0	1	0	119	104				
MT-CYB	4519	broad.mit.edu	37	M	14864	14864	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrM:14864T>C	ENST00000361789.2	+	1	118	c.118T>C	c.(118-120)Tgc>Cgc	p.C40R	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TH_ENST00000387441.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	40					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TCCTTGGCGCCTGCCTGATCC	0.493																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(118-120)Tgc>Cgc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:14864T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.118T>C	M.37:g.14864T>C	ENSP00000354554:p.Cys40Arg						p.40_40insR							1	118	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.118T>C																																																																																					0.493	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		72	46	0	0	0	1	0	72	46				
RPN2	6185	broad.mit.edu	37	20	35862430	35862430	+	Missense_Mutation	SNP	G	G	T	rs200070240		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35862430G>T	ENST00000237530.6	+	15	1996	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	RPN2_ENST00000373622.5_Missense_Mutation_p.R530L|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	562					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGTGGATCCGGATTGGTGCC	0.448																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(1684-1686)cGg>cTg		ribophorin II							170.0	144.0	153.0					20																	35862430		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35862430G>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1685G>T	20.37:g.35862430G>T	ENSP00000237530:p.Arg562Leu					RPN2_ENST00000373622.5_Missense_Mutation_p.R530L|RPN2_ENST00000470352.1_3'UTR	p.R562L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			15	1996	+		Myeloproliferative disorder(115;0.00878)	562					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.1685G>T	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034558	0.54896	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000373623;ENST00000437329	T;T;T	0.52983	0.64;0.64;0.64	5.27	5.27	0.74061	.	0.059531	0.64402	D	0.000005	T	0.34193	0.0889	L	0.38175	1.15	0.41102	D	0.985673	B;B	0.28400	0.21;0.059	B;B	0.25140	0.058;0.058	T	0.12091	-1.0561	10	0.21540	T	0.41	-17.8173	9.7476	0.40457	0.0907:0.0:0.9093:0.0	.	530;562	Q5JYR6;P04844	.;RPN2_HUMAN	L	562;530;69;86;69	ENSP00000237530:R562L;ENSP00000362724:R530L;ENSP00000409580:R69L	ENSP00000237530:R562L	R	+	2	0	RPN2	35295844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.746000	0.74866	2.735000	0.93741	0.655000	0.94253	CGG		0.448	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		6	53	1	0	0.00198382	1	0.00203892	6	53				
C8orf76	84933	broad.mit.edu	37	8	124243797	124243797	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:124243797C>T	ENST00000276704.4	-	4	609	c.558G>A	c.(556-558)gcG>gcA	p.A186A	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Silent_p.A154A	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	186										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGAGATGACGCAAGTGCTG	0.438																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(556-558)gcG>gcA		chromosome 8 open reading frame 76							145.0	153.0	150.0					8																	124243797		2203	4300	6503	SO:0001819	synonymous_variant	84933						binding	g.chr8:124243797C>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.558G>A	8.37:g.124243797C>T						C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Silent_p.A154A	p.A186A	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	609	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		186					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.558G>A	CCDS6341.1																																																																																				0.438	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		18	128	0	0	0	1	0	18	128				
HPX	3263	broad.mit.edu	37	11	6452620	6452620	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:6452620C>T	ENST00000265983.3	-	10	1310	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	404					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AAGGCTCCGTCTACCTTCTCA	0.572																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1210-1212)Gac>Aac		hemopexin							135.0	122.0	127.0					11																	6452620		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452620C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1210G>A	11.37:g.6452620C>T	ENSP00000265983:p.Asp404Asn						p.D404N	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1310	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	404					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1210G>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511860	0.85389	.	.	ENSG00000110169	ENST00000265983	T	0.14391	2.51	5.64	5.64	0.86602	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.84948	2.725	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.41574	-0.9501	10	0.62326	D	0.03	-21.1343	17.1864	0.86868	0.0:1.0:0.0:0.0	.	404	P02790	HEMO_HUMAN	N	404	ENSP00000265983:D404N	ENSP00000265983:D404N	D	-	1	0	HPX	6409196	0.996000	0.38824	0.983000	0.44433	0.791000	0.44710	2.650000	0.46665	2.676000	0.91093	0.561000	0.74099	GAC		0.572	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		47	10	0	0	0	1	0	47	10				
ZBTB7B	51043	broad.mit.edu	37	1	154987459	154987459	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:154987459C>A	ENST00000368426.3	+	3	460	c.323C>A	c.(322-324)aCa>aAa	p.T108K	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T108K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T108K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T142K|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	108	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTGCCTATACAGCCACACTG	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(322-324)aCa>aAa		zinc finger and BTB domain containing 7B							26.0	30.0	28.0					1																	154987459		2202	4300	6502	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987459C>A	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.323C>A	1.37:g.154987459C>A	ENSP00000357411:p.Thr108Lys					ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T142K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T108K|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T108K	p.T108K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	460	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		108			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.323C>A	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938509	0.73557	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	3.67	3.67	0.42095	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	D	0.84247	0.5430	M	0.86502	2.82	0.47374	D	0.999402	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.87234	0.2262	10	0.87932	D	0	.	12.906	0.58152	0.0:1.0:0.0:0.0	.	108;108;142	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	108;108;142;108	ENSP00000438647:T108K;ENSP00000357411:T108K;ENSP00000406286:T142K;ENSP00000292176:T108K	ENSP00000292176:T108K	T	+	2	0	ZBTB7B	153254083	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.578000	0.82498	1.872000	0.54250	0.462000	0.41574	ACA		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		19	56	1	0	6.49762e-13	1	7.28521e-13	19	56				
SCLT1	132320	broad.mit.edu	37	4	129886450	129886450	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:129886450A>T	ENST00000281142.5	-	11	1304	c.801T>A	c.(799-801)caT>caA	p.H267Q	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	267					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTCTCTTCCATGGGCAGACA	0.343																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(799-801)caT>caA		sodium channel and clathrin linker 1							107.0	108.0	108.0					4																	129886450		2203	4300	6503	SO:0001583	missense	132320					centrosome		g.chr4:129886450A>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.801T>A	4.37:g.129886450A>T	ENSP00000281142:p.His267Gln					SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	p.H267Q	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			11	1304	-			267					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.801T>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	A	3.398	-0.122862	0.06795	.	.	ENSG00000151466	ENST00000281142	T	0.08546	3.08	5.79	2.04	0.26737	.	0.181840	0.49305	N	0.000155	T	0.01353	0.0044	N	0.00146	-1.995	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36432	-0.9748	9	.	.	.	-2.9096	4.0705	0.09880	0.1488:0.2759:0.0:0.5754	.	267	Q96NL6	SCLT1_HUMAN	Q	267	ENSP00000281142:H267Q	.	H	-	3	2	SCLT1	130105900	0.968000	0.33430	1.000000	0.80357	0.979000	0.70002	-0.006000	0.12833	0.447000	0.26695	-0.302000	0.09304	CAT		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		13	26	0	0	0	1	0	13	26				
SGSM1	129049	broad.mit.edu	37	22	25251535	25251535	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:25251535G>T	ENST00000400359.4	+	8	696	c.689G>T	c.(688-690)aGt>aTt	p.S230I	SGSM1_ENST00000400358.4_Missense_Mutation_p.S230I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	230						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGCATTCCAGTGGCAGCATG	0.572																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(688-690)aGt>aTt		small G protein signaling modulator 1							51.0	58.0	56.0					22																	25251535		2042	4177	6219	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25251535G>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.689G>T	22.37:g.25251535G>T	ENSP00000383212:p.Ser230Ile					SGSM1_ENST00000400359.4_Missense_Mutation_p.S230I	p.S230I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			8	746	+			230					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.689G>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756458	0.69648	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.10005	2.93;2.92	4.05	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.29908	0.895	0.80722	D	1	P;D;D;D;D	0.76494	0.899;0.995;0.997;0.999;0.99	P;D;D;D;D	0.83275	0.466;0.979;0.963;0.996;0.944	T	0.03750	-1.1007	10	0.87932	D	0	-0.4065	15.5962	0.76583	0.0:0.0:1.0:0.0	.	230;205;363;230;205	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	I	205;230;230	ENSP00000383211:S230I;ENSP00000383212:S230I	ENSP00000383211:S230I	S	+	2	0	SGSM1	23581535	1.000000	0.71417	0.926000	0.36857	0.780000	0.44128	9.740000	0.98839	1.982000	0.57802	0.478000	0.44815	AGT		0.572	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		4	45	1	0	0.217242	1	0.217242	4	45				
TAF1	6872	broad.mit.edu	37	X	70621556	70621556	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:70621556C>A	ENST00000373790.4	+	25	4013	c.3962C>A	c.(3961-3963)aCc>aAc	p.T1321N	TAF1_ENST00000276072.3_Missense_Mutation_p.T1342N|TAF1_ENST00000423759.1_Missense_Mutation_p.T1342N|TAF1_ENST00000449580.1_Missense_Mutation_p.T1321N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1321					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTGAAGGGACCAAAATTGTC	0.433																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3961-3963)aCc>aAc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							116.0	105.0	109.0					X																	70621556		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70621556C>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3962C>A	X.37:g.70621556C>A	ENSP00000362895:p.Thr1321Asn					TAF1_ENST00000276072.3_Missense_Mutation_p.T1342N|TAF1_ENST00000373790.4_Missense_Mutation_p.T1321N|TAF1_ENST00000423759.1_Missense_Mutation_p.T1342N	p.T1321N			P21675	TAF1_HUMAN			25	4013	+	Renal(35;0.156)	all_lung(315;0.000321)	1321					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3962C>A	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.4|24.4	4.523379|4.523379	0.85600|0.85600	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.11063	.|2.82;2.88;2.87;2.81	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.36358|0.36358	0.0964|0.0964	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.983;0.994	T|T	0.11060|0.11060	-1.0603|-1.0603	5|10	.|0.87932	.|D	.|0	.|.	18.6948|18.6948	0.91596|0.91596	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1321;1321;1342	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	T|N	232|1321;1321;1342;27;27;1342	.|ENSP00000362895:T1321N;ENSP00000389000:T1321N;ENSP00000406549:T1342N;ENSP00000276072:T1342N	.|ENSP00000276072:T1342N	P|T	+|+	1|2	0|0	TAF1|TAF1	70538281|70538281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.484000|7.484000	0.81180|0.81180	2.359000|2.359000	0.80004|0.80004	0.541000|0.541000	0.68203|0.68203	CCA|ACC		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		26	13	1	0	8.24728e-16	1	9.53592e-16	26	13				
LRP3	4037	broad.mit.edu	37	19	33696691	33696691	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:33696691G>A	ENST00000253193.7	+	5	1217	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	339	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCTGGAGGCCGCCCAGGGCCG	0.711																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1015-1017)Gcc>Acc		low density lipoprotein receptor-related protein 3							5.0	8.0	7.0					19																	33696691		2016	3919	5935	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696691G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1015G>A	19.37:g.33696691G>A	ENSP00000253193:p.Ala339Thr						p.A339T	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1217	+	Esophageal squamous(110;0.137)		339			CUB 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1015G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	6.715	0.500649	0.12822	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.16743	2.32	5.02	1.44	0.22558	CUB (5);	0.369825	0.28052	N	0.016786	T	0.03477	0.0100	N	0.01228	-0.945	0.09310	N	1	B;B;B	0.29115	0.233;0.054;0.233	B;B;B	0.17722	0.019;0.013;0.019	T	0.40327	-0.9569	10	0.20046	T	0.44	-28.9897	2.5069	0.04647	0.0951:0.259:0.3918:0.2541	.	213;339;257	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	T	213;339	ENSP00000253193:A339T	ENSP00000253193:A339T	A	+	1	0	LRP3	38388531	0.976000	0.34144	0.978000	0.43139	0.593000	0.36681	2.207000	0.42788	2.341000	0.79615	0.313000	0.20887	GCC		0.711	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			3	14	0	0	0	1	0	3	14				
SEMA5A	9037	broad.mit.edu	37	5	9043072	9043072	+	Silent	SNP	A	A	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:9043072A>G	ENST00000382496.5	-	23	3827	c.3162T>C	c.(3160-3162)caT>caC	p.H1054H	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1054					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCCAGTGAGATGTGGGTTGA	0.333																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(3160-3162)caT>caC		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							216.0	211.0	213.0					5																	9043072		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9043072A>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3162T>C	5.37:g.9043072A>G						CTD-2215L10.1_ENST00000506519.1_RNA	p.H1054H	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			23	3827	-			1054					D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.3162T>C	CCDS3875.1																																																																																				0.333	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			27	28	0	0	0	1	0	27	28				
FOXA2	3170	broad.mit.edu	37	20	22563198	22563198	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:22563198G>A	ENST00000377115.4	-	3	845	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	FOXA2_ENST00000419308.2_Missense_Mutation_p.R228C	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	222					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCGGGCGAGCGGGGCACCTTC	0.627																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(664-666)Cgc>Tgc		forkhead box A2							40.0	44.0	43.0					20																	22563198		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563198G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.664C>T	20.37:g.22563198G>A	ENSP00000366319:p.Arg222Cys					FOXA2_ENST00000377115.4_Missense_Mutation_p.R222C|FOXA2_ENST00000319993.4_Missense_Mutation_p.R228C	p.R222C	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	866	-	Lung NSC(19;0.188)		222					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.664C>T	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964177	0.53507	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.96774	-4.12;-4.12;-4.12	4.98	3.99	0.46301	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.56097	U	0.000037	D	0.98782	0.9590	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98604	1.0660	10	0.87932	D	0	.	12.2485	0.54585	0.0:0.0:0.695:0.305	.	222;228	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	C	222;222;228;108	ENSP00000366319:R222C;ENSP00000400341:R222C;ENSP00000315955:R228C	ENSP00000315955:R228C	R	-	1	0	FOXA2	22511198	1.000000	0.71417	0.998000	0.56505	0.800000	0.45204	3.385000	0.52485	2.304000	0.77564	0.574000	0.79327	CGC		0.627	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			53	36	0	0	0	1	0	53	36				
CA13	377677	broad.mit.edu	37	8	86193464	86193464	+	Silent	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:86193464C>G	ENST00000321764.3	+	7	977	c.675C>G	c.(673-675)gcC>gcG	p.A225A		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	225					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	TACAGCTGGCCAAATTTCGCA	0.463																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(673-675)gcC>gcG		carbonic anhydrase XIII							145.0	172.0	163.0					8																	86193464		2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86193464C>G	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.675C>G	8.37:g.86193464C>G							p.A225A	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			7	977	+			225						Silent	SNP	ENST00000321764.3	37	c.675C>G	CCDS6236.1																																																																																				0.463	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		14	207	0	0	0	1	0	14	207				
CSMD2	114784	broad.mit.edu	37	1	34192255	34192255	+	Silent	SNP	G	G	A	rs145279639		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:34192255G>A	ENST00000373381.4	-	16	2576	c.2400C>T	c.(2398-2400)agC>agT	p.S800S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	760	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGATGGTGCCGCTGGGCGAAG	0.562																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2398-2400)agC>agT		CUB and Sushi multiple domains 2		G		4,4402	8.1+/-20.4	1,2,2200	35.0	39.0	38.0		2280	-7.7	0.5	1	dbSNP_134	38	0,8600		0,0,4300	yes	coding-synonymous	CSMD2	NM_052896.3		1,2,6500	AA,AG,GG		0.0,0.0908,0.0308		760/3488	34192255	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34192255G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2400C>T	1.37:g.34192255G>A							p.S800S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			16	2576	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	760			CUB 5.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2400C>T																																																																																					0.562	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		24	26	0	0	0	1	0	24	26				
TGIF2	60436	broad.mit.edu	37	20	35207242	35207242	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35207242G>C	ENST00000373874.2	+	2	264	c.65G>C	c.(64-66)aGg>aCg	p.R22T	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R22T|TGIF2_ENST00000373872.4_Missense_Mutation_p.R22T|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	22					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGAAGCGCAGGGGGAACCTG	0.602																																						ENST00000373874.2																			0				cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(64-66)aGg>aCg		TGFB-induced factor homeobox 2							117.0	106.0	110.0					20																	35207242		2203	4300	6503	SO:0001583	missense	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35207242G>C	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.65G>C	20.37:g.35207242G>C	ENSP00000362981:p.Arg22Thr					TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R22T|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R22T	p.R22T	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN			2	264	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	22					B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	c.65G>C	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709828	0.89018	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	D;D	0.88975	-2.45;-2.45	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.90577	0.7046	L	0.29908	0.895	0.27494	N	0.95219	D	0.71674	0.998	D	0.69307	0.963	D	0.85848	0.1402	10	0.72032	D	0.01	-14.0433	15.8254	0.78703	0.0:0.0:1.0:0.0	.	22	Q9GZN2	TGIF2_HUMAN	T	22	ENSP00000362981:R22T;ENSP00000362979:R22T	ENSP00000362979:R22T	R	+	2	0	TGIF2	34640656	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	9.327000	0.96396	2.316000	0.78162	0.561000	0.74099	AGG		0.602	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		52	123	0	0	0	1	0	52	123				
PHF19	26147	broad.mit.edu	37	9	123628012	123628012	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:123628012G>T	ENST00000373896.3	-	9	1128	c.876C>A	c.(874-876)caC>caA	p.H292Q	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.H83Q	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	292					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGCTCCCAGTGGTGGTTGA	0.557																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(874-876)caC>caA		PHD finger protein 19							109.0	109.0	109.0					9																	123628012		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123628012G>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.876C>A	9.37:g.123628012G>T	ENSP00000363003:p.His292Gln					PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.H83Q	p.H292Q	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			9	1128	-			292					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.876C>A	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	g	17.85	3.490317	0.64074	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155;ENST00000453868	T;T;T	0.47528	1.89;0.88;0.84	4.84	3.95	0.45737	.	0.192320	0.43110	D	0.000613	T	0.33030	0.0849	N	0.25890	0.77	0.49687	D	0.99981	P	0.37330	0.59	B	0.33846	0.171	T	0.18681	-1.0329	10	0.49607	T	0.09	-26.6569	11.979	0.53109	0.0854:0.0:0.9146:0.0	.	292	Q5T6S3	PHF19_HUMAN	Q	292;292;83;83	ENSP00000363003:H292Q;ENSP00000407433:H83Q;ENSP00000395938:H83Q	ENSP00000363003:H292Q	H	-	3	2	PHF19	122667833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.570000	0.73996	1.276000	0.44395	-0.265000	0.10407	CAC		0.557	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		20	55	1	0	2.37509e-13	1	2.70395e-13	20	55				
SSX7	280658	broad.mit.edu	37	X	52677447	52677447	+	Splice_Site	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:52677447C>G	ENST00000298181.5	-	6	489		c.e6-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TGGGCATGATCTTTATAATGT	0.438																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.e6-1		synovial sarcoma, X breakpoint 7							177.0	170.0	172.0					X																	52677447		2203	4297	6500	SO:0001630	splice_region_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52677447C>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.331-1G>C	X.37:g.52677447C>G								NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			6	489	-	Ovarian(276;0.236)								Splice_Site	SNP	ENST00000298181.5	37		CCDS14343.1	.	.	.	.	.	.	.	.	.	.	.	2.853	-0.237879	0.05944	.	.	ENSG00000187754	ENST00000298181	.	.	.	0.56	0.56	0.17279	.	.	.	.	.	.	.	.	.	.	.	0.21020	N	0.999803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	SSX7	52694172	0.009000	0.17119	0.037000	0.18230	0.112000	0.19704	1.214000	0.32419	0.518000	0.28383	0.174000	0.16983	.		0.438	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358	Intron	67	33	0	0	0	1	0	67	33				
SLC8A2	6543	broad.mit.edu	37	19	47935656	47935656	+	Silent	SNP	C	C	T	rs144930504		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:47935656C>T	ENST00000236877.6	-	9	2552	c.2157G>A	c.(2155-2157)ccG>ccA	p.P719P	SLC8A2_ENST00000539381.1_Silent_p.P182P|SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Silent_p.P475P	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	719					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAAAGCACGACGGCAGCCGCT	0.637													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15943	0.0		0.0	False		,,,				2504	0.0					ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2155-2157)ccG>ccA		solute carrier family 8 (sodium/calcium exchanger), member 2		C		4,4402	8.1+/-20.4	0,4,2199	74.0	72.0	73.0		2157	-8.5	0.1	19	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC8A2	NM_015063.2		0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461		719/922	47935656	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935656C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2157G>A	19.37:g.47935656C>T						SLC8A2_ENST00000539381.1_Silent_p.P182P|SLC8A2_ENST00000542837.1_Silent_p.P475P	p.P719P	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2552	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	719					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.2157G>A	CCDS33065.1																																																																																				0.637	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			40	73	0	0	0	1	0	40	73				
KLHDC3	116138	broad.mit.edu	37	6	42986290	42986290	+	Silent	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:42986290G>C	ENST00000326974.4	+	6	924	c.729G>C	c.(727-729)tcG>tcC	p.S243S	KLHDC3_ENST00000244670.8_Silent_p.S109S|KLHDC3_ENST00000332245.8_Silent_p.S184S	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	243					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGAGCCACTCGGCCTGTGAGT	0.572																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(727-729)tcG>tcC		kelch domain containing 3							114.0	124.0	121.0					6																	42986290		2203	4300	6503	SO:0001819	synonymous_variant	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986290G>C	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.729G>C	6.37:g.42986290G>C						KLHDC3_ENST00000332245.8_Silent_p.S184S|KLHDC3_ENST00000244670.8_Silent_p.S109S	p.S243S	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	924	+			243					A8K2W9	Silent	SNP	ENST00000326974.4	37	c.729G>C	CCDS4880.1																																																																																				0.572	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		33	198	0	0	0	1	0	33	198				
CDK11A	728642	broad.mit.edu	37	1	1650881	1650881	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650881C>G	ENST00000378633.1	-	4	320	c.241G>C	c.(241-243)Gat>Cat	p.D81H	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Missense_Mutation_p.D81H|CDK11A_ENST00000358779.5_Missense_Mutation_p.D81H|CDK11A_ENST00000404249.3_Missense_Mutation_p.D81H|CDK11A_ENST00000378638.2_Missense_Mutation_p.D47H|CDK11A_ENST00000378635.3_Missense_Mutation_p.D81H|CDK11A_ENST00000356200.3_Missense_Mutation_p.D47H			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	81	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCCAAAGAATCATCTTCTTCT	0.393																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(139-141)Gat>Cat		cyclin-dependent kinase 11A							254.0	240.0	244.0					1																	1650881		1909	4124	6033	SO:0001583	missense	728642							g.chr1:1650881C>G	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.241G>C	1.37:g.1650881C>G	ENSP00000367900:p.Asp81His					CDK11A_ENST00000358779.5_Missense_Mutation_p.D81H|CDK11A_ENST00000357760.2_Missense_Mutation_p.D81H|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.D81H|CDK11A_ENST00000378638.2_Missense_Mutation_p.D47H|CDK11A_ENST00000404249.3_Missense_Mutation_p.D81H|CDK11A_ENST00000378635.3_Missense_Mutation_p.D81H	p.D47H							3	373	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.139G>C		.	.	.	.	.	.	.	.	.	.	-	17.88	3.496588	0.64186	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85	5.3	5.3	0.74995	.	0.309943	0.28933	U	0.013677	T	0.22589	0.0545	L	0.27053	0.805	0.58432	D	0.99999	D;D;D;D;D;P;D;D;D;D;D	0.89917	0.997;0.996;1.0;0.997;1.0;0.852;1.0;1.0;0.999;0.989;0.998	D;P;D;D;D;P;D;D;D;D;D	0.91635	0.974;0.804;0.987;0.974;0.999;0.606;0.997;0.988;0.979;0.912;0.978	T	0.01909	-1.1249	10	0.40728	T	0.16	.	17.9833	0.89148	0.0:1.0:0.0:0.0	.	81;81;81;81;81;81;47;81;81;47;81	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	H	47;81;81;81;81;47;47;81;81	ENSP00000348529:D47H;ENSP00000384442:D81H;ENSP00000350403:D81H;ENSP00000351629:D81H;ENSP00000367900:D81H;ENSP00000367905:D47H;ENSP00000367902:D81H;ENSP00000423900:D81H	ENSP00000348529:D47H	D	-	1	0	CDK11A	1640741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.961000	0.76042	2.462000	0.83206	0.655000	0.94253	GAT		0.393	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		35	183	0	0	0	1	0	35	183				
PARP8	79668	broad.mit.edu	37	5	50045994	50045994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:50045994C>A	ENST00000281631.5	+	3	314	c.156C>A	c.(154-156)taC>taA	p.Y52*	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Nonsense_Mutation_p.Y31*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Nonsense_Mutation_p.Y52*	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	52						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTGTATCCTACTCAGTACATG	0.333																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(154-156)taC>taA		poly (ADP-ribose) polymerase family, member 8							131.0	127.0	128.0					5																	50045994		2203	4299	6502	SO:0001587	stop_gained	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50045994C>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.156C>A	5.37:g.50045994C>A	ENSP00000281631:p.Tyr52*					PARP8_ENST00000505554.1_Nonsense_Mutation_p.Y31*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR	p.Y52*	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			3	314	+		Lung NSC(810;0.0305)|Breast(144;0.222)	52					Q3KRB7|Q6DHZ1|Q9H754	Nonsense_Mutation	SNP	ENST00000281631.5	37	c.156C>A	CCDS3954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096102|4.096102	0.76870|0.76870	.|.	.|.	ENSG00000151883|ENSG00000151883	ENST00000503888;ENST00000503193|ENST00000505697;ENST00000503750;ENST00000502524;ENST00000281631;ENST00000514067;ENST00000503046;ENST00000505554	.|.	.|.	.|.	5.41|5.41	2.45|2.45	0.29901|0.29901	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.55146|.	0.1902|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48375|.	-0.9041|.	4|.	.|.	.|.	.|.	-15.5168|-15.5168	7.3514|7.3514	0.26693|0.26693	0.0:0.7019:0.0:0.2981|0.0:0.7019:0.0:0.2981	.|.	.|.	.|.	.|.	N|X	34|52;52;52;52;52;52;31	.|.	.|.	T|Y	+|+	2|3	0|2	PARP8|PARP8	50081751|50081751	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.623000|0.623000	0.37688|0.37688	0.161000|0.161000	0.16481|0.16481	0.678000|0.678000	0.31325|0.31325	0.555000|0.555000	0.69702|0.69702	ACT|TAC		0.333	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		5	2	1	0	0.000602214	1	0.000645853	5	2				
FASTKD5	60493	broad.mit.edu	37	20	3127481	3127481	+	Missense_Mutation	SNP	G	G	C	rs536166513		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:3127481G>C	ENST00000380266.3	-	2	2557	c.2236C>G	c.(2236-2238)Cga>Gga	p.R746G	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	746	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGCGAGTTCGTTTCAGTAGT	0.488																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(2236-2238)Cga>Gga		FAST kinase domains 5							119.0	117.0	118.0					20																	3127481		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3127481G>C	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.2236C>G	20.37:g.3127481G>C	ENSP00000369618:p.Arg746Gly					UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	p.R746G	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	2557	-			746			RAP.		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.2236C>G	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032485	0.54790	.	.	ENSG00000215251	ENST00000380266	T	0.16897	2.31	5.83	3.83	0.44106	RAP domain (3);	0.134024	0.31784	N	0.007079	T	0.36826	0.0981	M	0.63428	1.95	0.40713	D	0.982597	D	0.63880	0.993	D	0.64144	0.922	T	0.22521	-1.0214	10	0.66056	D	0.02	.	15.0126	0.71560	0.0:0.0:0.733:0.267	.	746	Q7L8L6	FAKD5_HUMAN	G	746	ENSP00000369618:R746G	ENSP00000369618:R746G	R	-	1	2	FASTKD5	3075481	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.439000	0.44846	0.748000	0.32831	0.655000	0.94253	CGA		0.488	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		35	83	0	0	0	1	0	35	83				
CDCA7L	55536	broad.mit.edu	37	7	21940750	21940750	+	3'UTR	SNP	G	G	A	rs551275210		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:21940750G>A	ENST00000406877.3	-	0	2834				CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000328843.6_Missense_Mutation_p.E4484K|DNAH11_ENST00000409508.3_Missense_Mutation_p.E4477K	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ACAGACCTACGAGTGCCCTGT	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.0					ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(13450-13452)Gag>Aag		dynein, axonemal, heavy chain 11							80.0	85.0	83.0					7																	21940750		1896	4114	6010	SO:0001624	3_prime_UTR_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21940750G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.*1190C>T	7.37:g.21940750G>A						CDCA7L_ENST00000356195.5_3'UTR|CDCA7L_ENST00000406877.3_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.E4477K	p.E4484K			Q96DT5	DYH11_HUMAN			83	13481	+			4484					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13450G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967456	0.74131	.	.	ENSG00000105877	ENST00000328843	T	0.09073	3.02	5.97	5.97	0.96955	Dynein heavy chain (1);	0.135067	0.64402	D	0.000003	T	0.10809	0.0264	.	.	.	0.80722	D	1	D	0.58970	0.984	P	0.48704	0.587	T	0.25882	-1.0119	9	0.14656	T	0.56	.	14.5654	0.68171	0.0694:0.0:0.9306:0.0	.	4484	Q96DT5	DYH11_HUMAN	K	4484	ENSP00000330671:E4484K	ENSP00000330671:E4484K	E	+	1	0	DNAH11	21907275	1.000000	0.71417	0.729000	0.30791	0.493000	0.33554	3.917000	0.56424	2.837000	0.97791	0.655000	0.94253	GAG		0.527	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		48	59	0	0	0	1	0	48	59				
OR5F1	338674	broad.mit.edu	37	11	55761779	55761779	+	Missense_Mutation	SNP	G	G	A	rs200586728		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:55761779G>A	ENST00000278409.1	-	1	322	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTCGGTTGTCGCCAGGGAGAT	0.478																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(322-324)gCg>gTg		olfactory receptor, family 5, subfamily F, member 1							85.0	83.0	84.0					11																	55761779		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761779G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.323C>T	11.37:g.55761779G>A	ENSP00000278409:p.Ala108Val						p.A108V	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	322	-	Esophageal squamous(21;0.00448)		108					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.323C>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.537844	0.00942	.	.	ENSG00000149133	ENST00000278409	T	0.01359	4.98	3.03	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00784	0.0026	N	0.10760	0.04	0.09310	N	1	D	0.57257	0.979	B	0.41135	0.348	T	0.49194	-0.8965	9	0.09084	T	0.74	.	8.9984	0.36066	0.1198:0.6657:0.2144:0.0	.	108	O95221	OR5F1_HUMAN	V	108	ENSP00000278409:A108V	ENSP00000278409:A108V	A	-	2	0	OR5F1	55518355	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-1.350000	0.02624	-0.045000	0.13468	0.297000	0.19635	GCG		0.478	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		52	34	0	0	0	1	0	52	34				
REXO1	57455	broad.mit.edu	37	19	1828425	1828425	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:1828425G>A	ENST00000170168.4	-	2	457	c.363C>T	c.(361-363)tcC>tcT	p.S121S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	121						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gggccTCGGCGGAGCGGTGCT	0.731																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(361-363)tcC>tcT		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							11.0	13.0	12.0					19																	1828425		2190	4262	6452	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828425G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.363C>T	19.37:g.1828425G>A						REXO1_ENST00000587524.1_5'UTR	p.S121S	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	457	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	121					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.363C>T	CCDS32866.1																																																																																				0.731	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		18	2	0	0	0	1	0	18	2				
ZNF404	342908	broad.mit.edu	37	19	44377285	44377285	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:44377285C>T	ENST00000587539.1	-	3	1080	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZNF404_ENST00000324394.6_Missense_Mutation_p.G359R	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAGGCCTTTCCACAATCCTTA	0.393																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1081-1083)Gga>Aga		zinc finger protein 404							42.0	47.0	45.0					19																	44377285		2146	4270	6416	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377285C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1081G>A	19.37:g.44377285C>T	ENSP00000466051:p.Gly361Arg					ZNF404_ENST00000324394.6_Missense_Mutation_p.G359R	p.G361R	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	1080	-		Prostate(69;0.0352)	361					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.1081G>A	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917609	0.33815	.	.	ENSG00000176222	ENST00000324394	T	0.21361	2.01	2.42	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43678	0.1258	M	0.81179	2.53	0.23751	N	0.996949	D	0.89917	1.0	D	0.74348	0.983	T	0.15780	-1.0425	9	0.87932	D	0	.	7.9265	0.29878	0.0:0.8648:0.0:0.1352	.	361	Q494X3	ZN404_HUMAN	R	359	ENSP00000319479:G359R	ENSP00000319479:G359R	G	-	1	0	ZNF404	49069125	0.069000	0.21087	0.797000	0.32132	0.415000	0.31203	2.043000	0.41231	0.338000	0.23692	0.404000	0.27445	GGA		0.393	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		17	14	0	0	0	1	0	17	14				
MYRIP	25924	broad.mit.edu	37	3	40251350	40251350	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:40251350G>A	ENST00000302541.6	+	11	2013	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	MYRIP_ENST00000444716.1_Silent_p.S557S|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.S370S|MYRIP_ENST00000396217.3_Silent_p.S468S|MYRIP_ENST00000425621.1_Silent_p.S557S|RN7SL411P_ENST00000585204.1_RNA	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	557	Actin-binding.|Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TTTAGGTGTCGGATGATTTAT	0.483																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1669-1671)tcG>tcA		myosin VIIA and Rab interacting protein							115.0	109.0	111.0					3																	40251350		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40251350G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1671G>A	3.37:g.40251350G>A						MYRIP_ENST00000444716.1_Silent_p.S557S|MYRIP_ENST00000396217.3_Silent_p.S468S|MYRIP_ENST00000425621.1_Silent_p.S557S|MYRIP_ENST00000539167.1_Silent_p.S370S|MYRIP_ENST00000459828.1_3'UTR	p.S557S	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	11	2013	+			557			Actin-binding.|Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1671G>A	CCDS2689.1																																																																																				0.483	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		30	64	0	0	0	1	0	30	64				
RAPGEF6	51735	broad.mit.edu	37	5	130764852	130764852	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:130764852G>T	ENST00000509018.1	-	27	4728	c.4523C>A	c.(4522-4524)cCt>cAt	p.P1508H	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1516H|RAPGEF6_ENST00000507093.1_Intron|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.P1558H|RAPGEF6_ENST00000307984.5_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1508					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCCTGGAGGAGTGGGAGG	0.448																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4522-4524)cCt>cAt		Rap guanine nucleotide exchange factor (GEF) 6							96.0	97.0	96.0					5																	130764852		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130764852G>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4523C>A	5.37:g.130764852G>T	ENSP00000421684:p.Pro1508His					RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1516H|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000307984.5_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.P1558H	p.P1508H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	27	4728	-			1508					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4523C>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392366	0.83011	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.43688	0.94;0.95;1.07	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	T	0.67476	-0.5661	10	0.87932	D	0	.	18.6094	0.91279	0.0:0.0:1.0:0.0	.	1516;1558;1508	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	H	1508;1516;1558	ENSP00000421684:P1508H;ENSP00000296859:P1516H;ENSP00000426948:P1558H	ENSP00000426948:P1558H	P	-	2	0	RAPGEF6;FNIP1	130792751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.592000	0.90828	2.638000	0.89438	0.655000	0.94253	CCT		0.448	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		73	7	1	0	1.43675e-24	1	1.71484e-24	73	7				
OR10Z1	128368	broad.mit.edu	37	1	158576290	158576290	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:158576290G>C	ENST00000361284.1	+	1	62	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCCAGTTCTGGGGAGTTGCAG	0.473																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(61-63)gGg>gCg		olfactory receptor, family 10, subfamily Z, member 1							158.0	155.0	156.0					1																	158576290		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576290G>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.62G>C	1.37:g.158576290G>C	ENSP00000354707:p.Gly21Ala						p.G21A	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	62	+	all_hematologic(112;0.0378)		21					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.62G>C	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	4.146	0.025440	0.08054	.	.	ENSG00000198967	ENST00000361284	T	0.00428	7.44	5.25	5.25	0.73442	.	0.000000	0.39834	N	0.001244	T	0.00073	0.0002	N	0.13299	0.325	0.32489	N	0.540494	B	0.19073	0.033	B	0.15870	0.014	T	0.42327	-0.9458	10	0.27785	T	0.31	.	7.4412	0.27185	0.0861:0.1697:0.7442:0.0	.	21	Q8NGY1	O10Z1_HUMAN	A	21	ENSP00000354707:G21A	ENSP00000354707:G21A	G	+	2	0	OR10Z1	156842914	0.000000	0.05858	0.953000	0.39169	0.218000	0.24690	0.050000	0.14120	2.730000	0.93505	0.655000	0.94253	GGG		0.473	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		16	120	0	0	0	1	0	16	120				
GPR37	2861	broad.mit.edu	37	7	124386910	124386910	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:124386910C>T	ENST00000303921.2	-	2	2161	c.1511G>A	c.(1510-1512)tGc>tAc	p.C504Y		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	504				FC -> LG (in Ref. 3; AAC51281). {ECO:0000305}.	dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGAATAATGCAAAATCCATA	0.423																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1510-1512)tGc>tAc		G protein-coupled receptor 37 (endothelin receptor type B-like)							107.0	101.0	103.0					7																	124386910		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386910C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1511G>A	7.37:g.124386910C>T	ENSP00000306449:p.Cys504Tyr						p.C504Y	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	2161	-			504	FC -> LG (in Ref. 3; AAC51281).				A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1511G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817784	0.71028	.	.	ENSG00000170775	ENST00000303921	T	0.54279	0.58	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.74007	0.3660	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76366	-0.2985	10	0.87932	D	0	-26.0153	18.635	0.91374	0.0:1.0:0.0:0.0	.	504	O15354	GPR37_HUMAN	Y	504	ENSP00000306449:C504Y	ENSP00000306449:C504Y	C	-	2	0	GPR37	124174146	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.639000	0.89480	0.655000	0.94253	TGC		0.423	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		25	38	0	0	0	1	0	25	38				
LAMTOR5	10542	broad.mit.edu	37	1	110950343	110950343	+	5'Flank	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:110950343G>T	ENST00000602318.1	-	0	0				LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P49Q|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											GGACCGTAACGGCGCCTCCAA	0.617																																						ENST00000256644.4																			0											c.(145-147)cCg>cAg		late endosomal/lysosomal adaptor, MAPK and MTOR activator 5							88.0	75.0	79.0					1																	110950343		2203	4300	6503	SO:0001631	upstream_gene_variant	10542							g.chr1:110950343G>T	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"""HBx-interacting protein"", ""hepatitis B virus x-interacting protein (9.6kD)"""	608521	"""hepatitis B virus x interacting protein"""	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568		1.37:g.110950343G>T	Exception_encountered					LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA	p.P49Q	NM_006402.2	NP_006393.2					1	221	-								Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37	c.146C>A		.	.	.	.	.	.	.	.	.	.	G	16.76	3.211421	0.58343	.	.	ENSG00000134248	ENST00000256644	.	.	.	4.34	4.34	0.51931	.	0.000000	0.38778	N	0.001572	T	0.52500	0.1738	.	.	.	0.36675	D	0.878702	.	.	.	.	.	.	T	0.51521	-0.8695	5	.	.	.	-19.1094	12.6496	0.56753	0.0:0.0:1.0:0.0	.	.	.	.	Q	49	.	.	P	-	2	0	HBXIP	110751866	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	3.963000	0.56773	2.700000	0.92200	0.563000	0.77884	CCG		0.617	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		11	48	1	0	0.000673444	1	0.000711927	11	48				
GALNT2	2590	broad.mit.edu	37	1	230203056	230203056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:230203056delG	ENST00000366672.4	+	1	101	c.29delG	c.(28-30)tgcfs	p.C10fs	GALNT2_ENST00000541865.1_5'UTR|GALNT2_ENST00000543760.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	10					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ATGCTGCTCTGCTTCGCCTTC	0.771																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(28-30)tcfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							6.0	5.0	5.0					1																	230203056		1902	3791	5693	SO:0001589	frameshift_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230203056delG	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.29delG	1.37:g.230203056delG	ENSP00000355632:p.Cys10fs					GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_5'UTR	p.C10fs	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			1	101	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	10					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Frame_Shift_Del	DEL	ENST00000366672.4	37	c.29delG	CCDS1582.1																																																																																				0.771	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		2	4						2	4	---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233785144	233785144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:233785144delC	ENST00000264051.3	-	5	956	c.678delG	c.(676-678)gagfs	p.E226fs	NGEF_ENST00000373552.4_Frame_Shift_Del_p.E134fs|NGEF_ENST00000409079.1_Frame_Shift_Del_p.E134fs	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcct	0.592																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(676-678)gafs		neuronal guanine nucleotide exchange factor							67.0	70.0	69.0					2																	233785144		2203	4300	6503	SO:0001589	frameshift_variant	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785144delC	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.678delG	2.37:g.233785144delC	ENSP00000264051:p.Glu226fs					NGEF_ENST00000373552.4_Frame_Shift_Del_p.E134fs|NGEF_ENST00000409079.1_Frame_Shift_Del_p.E134fs	p.E226fs	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	956	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	226			Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Frame_Shift_Del	DEL	ENST00000264051.3	37	c.678delG	CCDS2500.1																																																																																				0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		32	36						32	36	---	---	---	---
RPSAP69	101927158	broad.mit.edu	37	3	196711853	196711854	+	RNA	INS	-	-	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:196711853_196711854insA	ENST00000445739.1	-	0	240																											gcgcaggatgcggaggttgcag	0.554																																						ENST00000445739.1																			0																																																			0							g.chr3:196711853_196711854insA																													3.37:g.196711853_196711854insA														0	240	-									RNA	INS	ENST00000445739.1	37																																																																																						0.554	AC011322.1-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000340485.1			2	4						2	4	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs10901234|rs386739105|rs74753118|rs386739104	byFrequency	TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2				carboxyl ester lipase pseudogene																		AGGATGCCCCTGTGCCCCTCA	0.677													T|T|-|deletion	2605	0.520168	0.3169	0.6527	5008	,	,		13192	0.6647		0.5915	False		,,,				2504	0.4785					ENST00000411440.2																			0																																																			0							g.chr9:135962465delT	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962465delT								NR_001275.2						0	972	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		3	4						3	4	---	---	---	---
CUTC	51076	broad.mit.edu	37	10	101492109	101492109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr10:101492109delA	ENST00000370476.5	+	1	133	c.4delA	c.(4-6)aaafs	p.K2fs	COX15_ENST00000370483.5_5'Flank|COX15_ENST00000016171.5_5'Flank|CUTC_ENST00000493385.1_Intron	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	2					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GTGGAGCATGAAAAGGCAGGG	0.677																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(4-6)aafs		cutC copper transporter							20.0	18.0	19.0					10																	101492109		2095	4143	6238	SO:0001589	frameshift_variant	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101492109delA	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.4delA	10.37:g.101492109delA	ENSP00000359507:p.Lys2fs					CUTC_ENST00000493385.1_Intron	p.K2fs	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	1	133	+		Colorectal(252;0.234)	2					Q5TCZ8|Q9Y321	Frame_Shift_Del	DEL	ENST00000370476.5	37	c.4delA	CCDS7483.1																																																																																				0.677	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		2	4						2	4	---	---	---	---
FAM101A	144347	broad.mit.edu	37	12	124762486	124762488	+	IGR	DEL	CCT	CCT	-	rs557871248|rs56853585	byFrequency	TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:124762486_124762488delCCT								FAM101A (42338 upstream) : FAM101A (11221 downstream)																							tctccacccccctcctcctcctc	0.596																																						ENST00000540762.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr12:124762486_124762488delCCT																													12.37:g.124762495_124762497delCCT														0	444	+									RNA	DEL		37																																																																																					0	0.596									2	4						2	4	---	---	---	---
PIEZO1	9780	broad.mit.edu	37	16	88800396	88800398	+	In_Frame_Del	DEL	CTG	CTG	-	rs144777557|rs144269709|rs62639697	byFrequency	TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr16:88800396_88800398delCTG	ENST00000301015.9	-	17	2491_2493	c.2245_2247delCAG	c.(2245-2247)cagdel	p.Q749del	RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	749					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.Q749delQ(1)|p.E756_D757insE(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						cctcctcctcctgctgctgctgc	0.665																																						ENST00000301015.9																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.Q749delQ(1)|p.E756_D757insE(1)	prostate(1)|breast(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						c.(2245-2247)del		piezo-type mechanosensitive ion channel component 1				527,2913		93,341,1286						-0.9	0.5		dbSNP_129	10	963,5733		197,569,2582	no	coding	PIEZO1	NM_001142864.2		290,910,3868	A1A1,A1R,RR		14.3817,15.3198,14.7001				1490,8646				SO:0001651	inframe_deletion	9780					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane	ion channel activity	g.chr16:88800396_88800398delCTG	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2245_2247delCAG	16.37:g.88800405_88800407delCTG	ENSP00000301015:p.Gln749del					RP5-1142A6.2_ENST00000440406.2_RNA	p.Q749del	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN			17	2491_2493	-			749					A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Del	DEL	ENST00000301015.9	37	c.2245_2247delCAG	CCDS54058.1																																																																																				0.665	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		3	4						3	4	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61835075	61835075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:61835075delC	ENST00000370339.3	-	4	558	c.217delG	c.(217-219)gctfs	p.A73fs	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.A23fs	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	73							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACCACGGAGCCTCATTGAGG	0.517																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(217-219)ctfs		YTH domain family, member 1							92.0	99.0	97.0					20																	61835075		2203	4300	6503	SO:0001589	frameshift_variant	54915							g.chr20:61835075delC	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.217delG	20.37:g.61835075delC	ENSP00000359364:p.Ala73fs					YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.A23fs|YTHDF1_ENST00000370334.4_Intron	p.A73fs	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	558	-			73					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Frame_Shift_Del	DEL	ENST00000370339.3	37	c.217delG	CCDS13511.1																																																																																				0.517	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		44	93						44	93	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458									transmembrane phosphatase with tensin homology pseudogene 1																		caccatccatcaccaacagaaac	0.443														1332	0.265974	0.0219	0.1614	5008	,	,		23789	0.3542		0.336	False		,,,				2504	0.5072					ENST00000426585.1																			0																																																			0							g.chr22:17131430_17131432delCAC			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131430_17131432delCAC														0	2456_2458	+									RNA	DEL	ENST00000426585.1	37																																																																																						0.443	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		3	4						3	4	---	---	---	---
