#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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	70	0	0	0	1	0	11	70				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		8	223	0	0	0	1	0	8	223				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		13	75	0	0	0	1	0	13	75				
TRABD2A	129293	broad.mit.edu	37	2	85097426	85097426	+	Missense_Mutation	SNP	G	G	A	rs372215440		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:85097426G>A	ENST00000409520.2	-	2	634	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R198W|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R198W	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	198					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										TTCCTCAGCCGCTCAGCCTCC	0.517																																						ENST00000335459.5																			0											c.(592-594)Cgg>Tgg		TraB domain containing 2A		G	TRP/ARG	1,4047		0,1,2023	141.0	145.0	144.0		592	-2.9	0.9	2		144	0,8388		0,0,4194	no	missense	C2orf89	NM_001080824.1	101	0,1,6217	AA,AG,GG		0.0,0.0247,0.0080	probably-damaging	198/457	85097426	1,12435	2024	4194	6218	SO:0001583	missense	129293							g.chr2:85097426G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.592C>T	2.37:g.85097426G>A	ENSP00000387075:p.Arg198Trp					TRABD2A_ENST00000409520.2_Missense_Mutation_p.R198W|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R198W	p.R198W	NM_001080824.1	NP_001074293.1					2	797	-								B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.592C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.886766	0.51908	2.47E-4	0.0	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.08546	3.08;3.08;3.08	3.14	-2.89	0.05665	.	0.087235	0.42172	N	0.000757	T	0.19167	0.0460	.	.	.	0.38592	D	0.950453	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.986;0.998	T	0.03268	-1.1054	9	0.87932	D	0	.	3.9367	0.09309	0.2008:0.0:0.343:0.4562	.	198;198;198	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	W	198	ENSP00000335004:R198W;ENSP00000387075:R198W;ENSP00000387183:R198W	ENSP00000335004:R198W	R	-	1	2	C2orf89	84950937	1.000000	0.71417	0.909000	0.35828	0.892000	0.51952	0.864000	0.27926	-1.188000	0.02705	-0.475000	0.04921	CGG		0.517	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		6	715	0	0	0	1	0	6	715				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		9	1144	0	0	0	1	0	9	1144				
EPC1	80314	broad.mit.edu	37	10	32581568	32581568	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:32581568C>T	ENST00000263062.8	-	5	940	c.671G>A	c.(670-672)cGc>cAc	p.R224H	EPC1_ENST00000375110.2_Missense_Mutation_p.R174H|EPC1_ENST00000319778.6_Missense_Mutation_p.R224H	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	224					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATCATTTTTGCGATTCTGCAA	0.313																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(670-672)cGc>cAc		enhancer of polycomb homolog 1 (Drosophila)							62.0	59.0	60.0					10																	32581568		2203	4299	6502	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32581568C>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.671G>A	10.37:g.32581568C>T	ENSP00000263062:p.Arg224His					EPC1_ENST00000263062.8_Missense_Mutation_p.R224H|EPC1_ENST00000375110.2_Missense_Mutation_p.R174H	p.R224H	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			5	973	-		Prostate(175;0.0199)	224					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.671G>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441708	0.96187	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.67345	-0.26;-0.26;-0.26	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.90294	0.4325	10	0.87932	D	0	-6.4105	20.0627	0.97684	0.0:1.0:0.0:0.0	.	224;174;224;224	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	H	174;224;224	ENSP00000364251:R174H;ENSP00000318559:R224H;ENSP00000263062:R224H	ENSP00000263062:R224H	R	-	2	0	EPC1	32621574	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.794000	0.85869	2.807000	0.96579	0.591000	0.81541	CGC		0.313	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			4	242	0	0	0	1	0	4	242				
DOCK2	1794	broad.mit.edu	37	5	169446049	169446049	+	Silent	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:169446049C>A	ENST00000256935.8	+	33	3398	c.3318C>A	c.(3316-3318)gcC>gcA	p.A1106A	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A167A|DOCK2_ENST00000520908.1_Silent_p.A598A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1106	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGGAAAGCCACCATACCAA	0.453																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3316-3318)gcC>gcA		dedicator of cytokinesis 2							197.0	195.0	196.0					5																	169446049		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169446049C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3318C>A	5.37:g.169446049C>A						DOCK2_ENST00000520908.1_Silent_p.A598A|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A167A	p.A1106A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	3398	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1106			Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3318C>A	CCDS4371.1																																																																																				0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		148	749	1	0	1.04528e-42	1	1.10941e-42	148	749				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			8	281	0	0	0	1	0	8	281				
LGALS9B	284194	broad.mit.edu	37	17	20363690	20363690	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:20363690C>T	ENST00000423676.3	-	2	169	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	LGALS9B_ENST00000324290.5_Missense_Mutation_p.A36T			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	36	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGAGAACGGCCCCATTGACA	0.562																																						ENST00000423676.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(106-108)Gcc>Acc		lectin, galactoside-binding, soluble, 9B							189.0	157.0	168.0					17																	20363690		2202	4298	6500	SO:0001583	missense	284194						sugar binding	g.chr17:20363690C>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.106G>A	17.37:g.20363690C>T	ENSP00000388841:p.Ala36Thr					LGALS9B_ENST00000324290.5_Missense_Mutation_p.A36T	p.A36T			Q3B8N2	LEG9B_HUMAN			2	169	-			36			Galectin 1.		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.106G>A		.	.	.	.	.	.	.	.	.	.	C	0.008	-1.894362	0.00522	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.04706	3.57;3.57	2.33	-4.66	0.03329	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.205440	0.05760	N	0.604671	T	0.01156	0.0038	N	0.00496	-1.435	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.42172	-0.9467	10	0.08381	T	0.77	.	4.3468	0.11136	0.162:0.4203:0.0:0.4177	.	36;36	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	T	36	ENSP00000388841:A36T;ENSP00000315564:A36T	ENSP00000315564:A36T	A	-	1	0	LGALS9B	20304282	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.624000	0.05540	-1.862000	0.01151	-1.441000	0.01070	GCC		0.562	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		8	283	0	0	0	1	0	8	283				
CNGA3	1261	broad.mit.edu	37	2	99012788	99012788	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:99012788C>G	ENST00000272602.2	+	7	1194	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L|CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000393504.1_Missense_Mutation_p.F385L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	385					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCGTAGACTTCTTGGTGGGTG	0.498																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1153-1155)ttC>ttG		cyclic nucleotide gated channel alpha 3							79.0	81.0	80.0					2																	99012788		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012788C>G	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1155C>G	2.37:g.99012788C>G	ENSP00000272602:p.Phe385Leu					CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L|CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000272602.2_Missense_Mutation_p.F385L	p.F385L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1572	+			385					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1155C>G	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727449	0.30593	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.05	5.05	0.67936	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.73598	2.24	0.58432	D	0.999997	B;B;B	0.31752	0.091;0.338;0.203	B;B;B	0.38194	0.147;0.267;0.255	D	0.94382	0.7605	10	0.32370	T	0.25	.	7.4961	0.27490	0.0:0.8252:0.0:0.1748	.	389;367;385	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	L	385;367;385;389	ENSP00000377140:F385L;ENSP00000410070:F367L;ENSP00000272602:F385L;ENSP00000386761:F389L	ENSP00000272602:F385L	F	+	3	2	CNGA3	98379220	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	0.525000	0.22956	2.620000	0.88729	0.563000	0.77884	TTC		0.498	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		72	232	0	0	0	1	0	72	232				
BUB1	699	broad.mit.edu	37	2	111425242	111425242	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:111425242C>T	ENST00000302759.6	-	8	779	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	BUB1_ENST00000535254.1_Missense_Mutation_p.V201M|BUB1_ENST00000409311.1_Missense_Mutation_p.V221M	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	221					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GATGAGTGCACAGAATATTCT	0.368																																						ENST00000535254.1																			1	Complex - deletion inframe(1)	p.V221_S227>S(1)	kidney(1)	breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(601-603)Gtg>Atg		BUB1 mitotic checkpoint serine/threonine kinase							95.0	96.0	95.0					2																	111425242		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111425242C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.661G>A	2.37:g.111425242C>T	ENSP00000302530:p.Val221Met					BUB1_ENST00000302759.6_Missense_Mutation_p.V221M|BUB1_ENST00000409311.1_Missense_Mutation_p.V221M	p.V201M	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	7	668	-		Ovarian(717;0.0822)	221					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.601G>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797928	0.50208	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32272	2.2;1.46;2.46	5.72	0.743	0.18347	.	1.042200	0.07470	N	0.902057	T	0.32496	0.0831	L	0.40543	1.245	0.09310	N	1	P;D;P	0.54047	0.955;0.964;0.874	P;P;B	0.53593	0.73;0.547;0.346	T	0.16571	-1.0398	10	0.32370	T	0.25	0.1037	3.7315	0.08495	0.293:0.4713:0.0:0.2356	.	201;221;221	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	M	201;221;221;221	ENSP00000441013:V201M;ENSP00000386701:V221M;ENSP00000302530:V221M	ENSP00000302530:V221M	V	-	1	0	BUB1	111141713	0.020000	0.18652	0.002000	0.10522	0.926000	0.56050	0.091000	0.15046	-0.140000	0.11394	0.650000	0.86243	GTG		0.368	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		68	347	0	0	0	1	0	68	347				
DOCK8	81704	broad.mit.edu	37	9	376273	376273	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:376273G>C	ENST00000453981.1	+	19	2285	c.2173G>C	c.(2173-2175)Gaa>Caa	p.E725Q	DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E657Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	725	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATTTAATATTGAAGTGCAAGC	0.408																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1969-1971)Gaa>Caa		dedicator of cytokinesis 8							140.0	136.0	137.0					9																	376273		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:376273G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2173G>C	9.37:g.376273G>C	ENSP00000408464:p.Glu725Gln					DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E725Q	p.E657Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	19	2285	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	725					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1969G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176915	0.78564	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.56769	1.78	0.80722	D	1	D;B;P;B	0.76494	0.999;0.255;0.534;0.361	D;B;B;B	0.66847	0.947;0.314;0.369;0.393	T	0.58059	-0.7703	10	0.27785	T	0.31	.	19.8078	0.96537	0.0:0.0:1.0:0.0	.	27;657;192;725	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	Q	725;725;657;657;27;192	ENSP00000408464:E725Q;ENSP00000394888:E657Q;ENSP00000419438:E657Q;ENSP00000371768:E27Q;ENSP00000371766:E192Q	ENSP00000287364:E725Q	E	+	1	0	DOCK8	366273	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.675000	0.98638	2.661000	0.90470	0.650000	0.86243	GAA		0.408	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		5	404	0	0	0	1	0	5	404				
AGO4	192670	broad.mit.edu	37	1	36316600	36316600	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:36316600C>T	ENST00000373210.3	+	17	2668	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	808	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GCATATTATGCCCGGCTTGTA	0.448																																						ENST00000373210.3																			0											c.(2422-2424)gCc>gTc		argonaute RISC catalytic component 4							84.0	75.0	78.0					1																	36316600		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36316600C>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2423C>T	1.37:g.36316600C>T	ENSP00000362306:p.Ala808Val					AGO4_ENST00000488778.1_3'UTR	p.A808V	NM_017629.3	NP_060099.2					17	2668	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.2423C>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154555	0.94686	.	.	ENSG00000134698	ENST00000373210	T	0.57595	0.39	5.4	5.4	0.78164	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92136	0.5716	10	0.87932	D	0	-11.3471	19.1712	0.93578	0.0:1.0:0.0:0.0	.	808	Q9HCK5	AGO4_HUMAN	V	808	ENSP00000362306:A808V	ENSP00000362306:A808V	A	+	2	0	EIF2C4	36089187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.526000	0.85167	0.591000	0.81541	GCC		0.448	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		4	107	0	0	0	1	0	4	107				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			8	225	0	0	0	1	0	8	225				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		5	153	0	0	0	1	0	5	153				
GEMIN5	25929	broad.mit.edu	37	5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1915-1917)aCg>aTg		gem (nuclear organelle) associated protein 5							116.0	101.0	106.0					5																	154292538		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154292538G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1916C>T	5.37:g.154292538G>A	ENSP00000285873:p.Thr639Met						p.T639M	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	1991	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	639					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.1916C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766113	0.69878	.	.	ENSG00000082516	ENST00000285873	T	0.65549	-0.16	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82647	-0.0354	10	0.87932	D	0	-17.564	19.0919	0.93229	0.0:0.0:1.0:0.0	.	638;639	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	M	639	ENSP00000285873:T639M	ENSP00000285873:T639M	T	-	2	0	GEMIN5	154272731	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	8.881000	0.92415	2.667000	0.90743	0.561000	0.74099	ACG		0.522	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			5	306	0	0	0	1	0	5	306				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	294	0	0	0	1	0	5	294				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR323A_ENST00000362199.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR380_ENST00000362112.2_RNA|MIR329-1_ENST00000385028.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR299_ENST00000385016.2_RNA|MIR758_ENST00000390227.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		10	880	0	0	0	1	0	10	880				
CASKIN2	57513	broad.mit.edu	37	17	73498943	73498943	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:73498943G>A	ENST00000321617.3	-	18	2798	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R656W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	738	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTAGGGGGCCGCTCTGTGCCC	0.657																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2212-2214)Cgg>Tgg		CASK interacting protein 2							19.0	21.0	21.0					17																	73498943		2124	4205	6329	SO:0001583	missense	57513					cytoplasm		g.chr17:73498943G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2212C>T	17.37:g.73498943G>A	ENSP00000325355:p.Arg738Trp					CASKIN2_ENST00000433559.2_Missense_Mutation_p.R656W	p.R738W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2798	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		738			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2212C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079834	0.55753	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71103	-0.54;-0.36	4.81	1.54	0.23209	.	0.386982	0.19123	N	0.122125	T	0.55146	0.1902	N	0.22421	0.69	0.29131	N	0.879632	B	0.25486	0.127	B	0.12837	0.008	T	0.52465	-0.8572	10	0.66056	D	0.02	.	13.4363	0.61086	0.0:0.0:0.5886:0.4113	.	738	Q8WXE0	CSKI2_HUMAN	W	738;656	ENSP00000325355:R738W;ENSP00000406963:R656W	ENSP00000325355:R738W	R	-	1	2	CASKIN2	71010538	1.000000	0.71417	0.896000	0.35187	0.625000	0.37756	2.813000	0.48002	0.193000	0.20303	0.561000	0.74099	CGG		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		5	532	0	0	0	1	0	5	532				
CDHR2	54825	broad.mit.edu	37	5	176003158	176003158	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:176003158T>A	ENST00000510636.1	+	12	1440	c.1166T>A	c.(1165-1167)cTc>cAc	p.L389H	CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H|CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCGATGACCTCACCATGGTG	0.667																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1165-1167)cTc>cAc		cadherin-related family member 2							66.0	57.0	60.0					5																	176003158		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003158T>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1166T>A	5.37:g.176003158T>A	ENSP00000424565:p.Leu389His					CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H|CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H	p.L389H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			12	1440	+			389			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1166T>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792906	0.70452	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.63255	-0.03;-0.03;-0.03	4.54	4.54	0.55810	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.79879	0.4522	M	0.91972	3.26	0.53688	D	0.999978	D	0.67145	0.996	P	0.60345	0.873	D	0.84655	0.0703	9	0.87932	D	0	-24.7678	12.2853	0.54789	0.0:0.0:0.0:1.0	.	389	Q9BYE9	CDHR2_HUMAN	H	389	ENSP00000424565:L389H;ENSP00000261944:L389H;ENSP00000421078:L389H	ENSP00000261944:L389H	L	+	2	0	CDHR2	175935764	1.000000	0.71417	0.971000	0.41717	0.555000	0.35460	4.560000	0.60802	1.910000	0.55303	0.448000	0.29417	CTC		0.667	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		39	217	0	0	0	1	0	39	217				
KAT6B	23522	broad.mit.edu	37	10	76788861	76788861	+	Missense_Mutation	SNP	G	G	A	rs533156310		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:76788861G>A	ENST00000287239.4	+	18	4768	c.4279G>A	c.(4279-4281)Gat>Aat	p.D1427N	KAT6B_ENST00000372711.1_Missense_Mutation_p.D1244N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1135N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1427					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCATGATGCCGATGACGAGGA	0.493																																						ENST00000287239.4																			0											c.(4279-4281)Gat>Aat		K(lysine) acetyltransferase 6B							86.0	88.0	87.0					10																	76788861		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788861G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4279G>A	10.37:g.76788861G>A	ENSP00000287239:p.Asp1427Asn					KAT6B_ENST00000372711.1_Missense_Mutation_p.D1244N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1135N	p.D1427N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	4768	+			1427					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4279G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577292	0.28092	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;D;T;T	0.81659	-1.47;-1.47;-1.52;-1.47;-1.49	4.81	4.81	0.61882	.	0.000000	0.51477	D	0.000087	D	0.87553	0.6206	L	0.55990	1.75	0.48830	D	0.999717	D;D;D	0.89917	0.999;0.976;1.0	D;P;D	0.76575	0.988;0.601;0.981	D	0.88934	0.3375	10	0.72032	D	0.01	-11.3528	17.489	0.87698	0.0:0.0:1.0:0.0	.	1244;1135;1427	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	1135;1135;1427;1135;1244	ENSP00000361810:D1135N;ENSP00000361809:D1135N;ENSP00000287239:D1427N;ENSP00000361799:D1135N;ENSP00000361796:D1244N	ENSP00000287239:D1427N	D	+	1	0	KAT6B	76458867	1.000000	0.71417	0.307000	0.25127	0.008000	0.06430	6.045000	0.71020	2.224000	0.72417	0.655000	0.94253	GAT		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		4	232	0	0	0	1	0	4	232				
MYLK	4638	broad.mit.edu	37	3	123333078	123333078	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:123333078G>A	ENST00000475616.1	-	31	5618	c.5619C>T	c.(5617-5619)tgC>tgT	p.C1873C	MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK_ENST00000346322.5_Silent_p.C1804C|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360772.3_Silent_p.C1822C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000354792.5_Silent_p.C673C			Q15746	MYLK_HUMAN	myosin light chain kinase	1873	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5464-5466)tgC>tgT		myosin light chain kinase							189.0	187.0	188.0					3																	123333078		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123333078G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5619C>T	3.37:g.123333078G>A						MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000475616.1_Silent_p.C1873C|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Silent_p.C1804C|MYLK-AS1_ENST00000463408.1_RNA	p.C1822C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	34	5844	-		Lung NSC(201;0.0496)	1873			Ig-like C2-type 9.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.5466C>T	CCDS46896.1																																																																																				0.498	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	733	0	0	0	1	0	6	733				
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329					ENST00000412962.1																			0																																																			0							g.chr1:16946437C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946437C>T														0	1082	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		10	72	0	0	0	1	0	10	72				
LGALS9B	284194	broad.mit.edu	37	17	20363711	20363711	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:20363711A>G	ENST00000423676.3	-	2	148	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L	LGALS9B_ENST00000324290.5_Missense_Mutation_p.F29L			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	29	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GTGATCTGAAATCCGTCCTGG	0.572																																						ENST00000423676.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(85-87)Ttt>Ctt		lectin, galactoside-binding, soluble, 9B							148.0	125.0	133.0					17																	20363711		2202	4297	6499	SO:0001583	missense	284194						sugar binding	g.chr17:20363711A>G		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.85T>C	17.37:g.20363711A>G	ENSP00000388841:p.Phe29Leu					LGALS9B_ENST00000324290.5_Missense_Mutation_p.F29L	p.F29L			Q3B8N2	LEG9B_HUMAN			2	148	-			29			Galectin 1.		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.85T>C		.	.	.	.	.	.	.	.	.	.	a	0.003	-2.416495	0.00188	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.05081	3.5;3.5	2.33	1.32	0.21799	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.412829	0.22669	N	0.057097	T	0.00936	0.0031	N	0.00072	-2.265	0.22771	N	0.99875	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45308	-0.9270	10	0.06891	T	0.86	.	5.3611	0.16087	0.1767:0.0:0.8233:0.0	.	29;29	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	L	29	ENSP00000388841:F29L;ENSP00000315564:F29L	ENSP00000315564:F29L	F	-	1	0	LGALS9B	20304303	0.979000	0.34478	0.245000	0.24217	0.100000	0.18952	2.325000	0.43840	0.316000	0.23135	-1.366000	0.01203	TTT		0.572	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		4	262	0	0	0	1	0	4	262				
DDX43	55510	broad.mit.edu	37	6	74115486	74115486	+	Silent	SNP	C	C	T	rs369730596		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:74115486C>T	ENST00000370336.4	+	6	893	c.735C>T	c.(733-735)gaC>gaT	p.D245D	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	245					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATTTGATGACGCCTTTCAAT	0.353																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(733-735)gaC>gaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43		C		0,4406		0,0,2203	93.0	86.0	88.0		735	1.4	1.0	6		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX43	NM_018665.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		245/649	74115486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74115486C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.735C>T	6.37:g.74115486C>T						DDX43_ENST00000539829.1_3'UTR	p.D245D	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			6	893	+			245					B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	c.735C>T	CCDS4977.1																																																																																				0.353	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		43	180	0	0	0	1	0	43	180				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		8	206	0	0	0	1	0	8	206				
PCDHB7	56129	broad.mit.edu	37	5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCCCCGGAC	0.692																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2026-2028)gCg>gTg									48.0	79.0	68.0					5																	140554443		2185	4283	6468	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554443C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2027C>T	5.37:g.140554443C>T	ENSP00000231137:p.Ala676Val						p.A676V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2201	+			676					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2027C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	4.037	0.004475	0.07866	.	.	ENSG00000113212	ENST00000231137	T	0.51817	0.69	3.77	-3.6	0.04570	.	.	.	.	.	T	0.17704	0.0425	N	0.10707	0.03	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.31641	-0.9936	9	0.02654	T	1	.	4.7814	0.13204	0.0:0.2545:0.3902:0.3553	.	676	Q9Y5E2	PCDB7_HUMAN	V	676	ENSP00000231137:A676V	ENSP00000231137:A676V	A	+	2	0	PCDHB7	140534627	0.000000	0.05858	0.077000	0.20336	0.306000	0.27790	-0.419000	0.07071	-0.428000	0.07339	0.449000	0.29647	GCG		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		72	563	0	0	0	1	0	72	563				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		11	119	0	0	0	1	0	11	119				
MMP13	4322	broad.mit.edu	37	11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	rs147544761	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102822878G>A	ENST00000260302.3	-	5	690	c.662C>T	c.(661-663)gCg>gTg	p.A221V	MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	221	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAACTCATGCGCAGCAACAAG	0.423													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17489	0.0		0.0	False		,,,				2504	0.0					ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(661-663)gCg>gTg		matrix metallopeptidase 13 (collagenase 3)		G	VAL/ALA	3,4401	8.1+/-20.4	0,3,2199	140.0	135.0	137.0		662	5.8	1.0	11	dbSNP_134	137	0,8598		0,0,4299	yes	missense	MMP13	NM_002427.3	64	0,3,6498	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	221/472	102822878	3,12999	2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822878G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.662C>T	11.37:g.102822878G>A	ENSP00000260302:p.Ala221Val					MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	690	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	221					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.662C>T	CCDS8324.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.655859	0.96724	6.81E-4	0.0	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.21543	2.0;2.0	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.093477	0.64402	D	0.000001	T	0.48277	0.1491	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.32955	-0.9887	10	0.59425	D	0.04	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	221	P45452	MMP13_HUMAN	V	221	ENSP00000260302:A221V;ENSP00000339672:A221V	ENSP00000260302:A221V	A	-	2	0	MMP13	102328088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.946000	0.87746	2.866000	0.98385	0.650000	0.86243	GCG		0.423	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		7	521	0	0	0	1	0	7	521				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	297	0	0	0	1	0	5	297				
RHOT2	89941	broad.mit.edu	37	16	721954	721954	+	Missense_Mutation	SNP	G	G	A	rs543941700		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:721954G>A	ENST00000315082.4	+	13	1163	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	350					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CGCACAGTCCGCACAGAGGCC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		10655	0.0		0.0	False		,,,				2504	0.001					ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1048-1050)cGc>cAc		ras homolog family member T2							48.0	60.0	56.0					16																	721954		2201	4297	6498	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721954G>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1049G>A	16.37:g.721954G>A	ENSP00000321971:p.Arg350His						p.R350H	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			13	1163	+		Hepatocellular(780;0.0218)	350					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1049G>A	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319598	0.41096	.	.	ENSG00000140983	ENST00000315082	T	0.10099	2.91	5.31	2.09	0.27110	EF hand associated, type-1 (1);	0.488085	0.25897	N	0.027587	T	0.10380	0.0254	N	0.22421	0.69	0.20403	N	0.999906	P	0.44006	0.824	P	0.44477	0.451	T	0.10497	-1.0627	10	0.44086	T	0.13	-4.7154	15.1832	0.72975	0.0:0.4165:0.5835:0.0	.	350	Q8IXI1	MIRO2_HUMAN	H	350	ENSP00000321971:R350H	ENSP00000321971:R350H	R	+	2	0	RHOT2	661955	0.971000	0.33674	0.002000	0.10522	0.006000	0.05464	1.740000	0.38228	0.186000	0.20125	0.456000	0.33151	CGC		0.692	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		6	481	0	0	0	1	0	6	481				
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108.0	110.0	110.0					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val						p.A304V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		7	534	0	0	0	1	0	7	534				
LRCH3	84859	broad.mit.edu	37	3	197562598	197562598	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:197562598G>C	ENST00000425562.2	+	9	1156	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	LRCH3_ENST00000438796.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q|LRCH3_ENST00000536618.1_5'UTR			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	386	Poly-Glu.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CGCAGAGGAAGAGGAGGCCGA	0.502																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1156-1158)Gag>Cag		leucine-rich repeats and calponin homology (CH) domain containing 3							142.0	124.0	130.0					3																	197562598		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197562598G>C	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1156G>C	3.37:g.197562598G>C	ENSP00000393579:p.Glu386Gln					LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q|LRCH3_ENST00000425562.2_Missense_Mutation_p.E386Q	p.E386Q			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	9	1200	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		386			Poly-Glu.		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1156G>C		.	.	.	.	.	.	.	.	.	.	G	24.0	4.481581	0.84747	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.38401	1.89;1.14;1.91;2.14;1.91	5.27	5.27	0.74061	.	0.057940	0.64402	D	0.000004	T	0.40222	0.1108	L	0.34521	1.04	0.80722	D	1	D;D;P;B	0.60160	0.987;0.958;0.817;0.27	P;P;P;B	0.52424	0.698;0.697;0.686;0.398	T	0.04621	-1.0938	10	0.16420	T	0.52	-10.8516	19.2996	0.94138	0.0:0.0:1.0:0.0	.	260;386;386;386	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	Q	386;260;386;386;386	ENSP00000399751:E386Q;ENSP00000394609:E260Q;ENSP00000394965:E386Q;ENSP00000334375:E386Q;ENSP00000393579:E386Q	ENSP00000334375:E386Q	E	+	1	0	LRCH3	199046995	1.000000	0.71417	0.957000	0.39632	0.888000	0.51559	8.533000	0.90617	2.642000	0.89623	0.644000	0.83932	GAG		0.502	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		37	402	0	0	0	1	0	37	402				
TAP1	6890	broad.mit.edu	37	6	32818230	32818230	+	Missense_Mutation	SNP	G	G	A	rs147332077		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:32818230G>A	ENST00000354258.4	-	5	1456	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.S171L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	432	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGGCATGGCCGACAGAGCCTC	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20882	0.0		0.0	False		,,,				2504	0.0					ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1294-1296)tCg>tTg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)		G	LEU/SER	6,4400	9.9+/-24.2	0,6,2197	80.0	84.0	82.0		1295	5.7	1.0	6	dbSNP_134	82	0,8600		0,0,4300	yes	missense	TAP1	NM_000593.5	145	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	possibly-damaging	432/809	32818230	6,13000	2203	4300	6503	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32818230G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1295C>T	6.37:g.32818230G>A	ENSP00000346206:p.Ser432Leu					TAP1_ENST00000425148.2_Missense_Mutation_p.S171L|PSMB9_ENST00000395330.1_Intron	p.S432L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			5	1456	-			432			ABC transmembrane type-1.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1295C>T	CCDS4758.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	35	5.420836	0.96111	0.001362	0.0	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.91068	-2.78;-2.78	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.38436	N	0.001686	D	0.92734	0.7690	M	0.79805	2.47	0.80722	D	1	P	0.52842	0.956	P	0.52189	0.692	D	0.93356	0.6722	10	0.72032	D	0.01	-5.2332	17.381	0.87405	0.0:0.0:1.0:0.0	.	432	Q03518	TAP1_HUMAN	L	432;171	ENSP00000346206:S432L;ENSP00000401919:S171L	ENSP00000346206:S432L	S	-	2	0	TAP1	32926208	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	5.503000	0.66962	2.706000	0.92434	0.643000	0.83706	TCG		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		4	206	0	0	0	1	0	4	206				
MYO16	23026	broad.mit.edu	37	13	109779895	109779895	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:109779895G>A	ENST00000357550.2	+	30	4023	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	MYO16_ENST00000356711.2_Missense_Mutation_p.E1328K|MYO16_ENST00000457511.2_Missense_Mutation_p.E840K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGCGGCCAACGAAGGTCAGCC	0.662																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3982-3984)Gaa>Aaa		myosin XVI							16.0	19.0	18.0					13																	109779895		2198	4295	6493	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779895G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3982G>A	13.37:g.109779895G>A	ENSP00000350160:p.Glu1328Lys					MYO16_ENST00000357550.2_Missense_Mutation_p.E1328K|MYO16_ENST00000457511.2_Missense_Mutation_p.E840K	p.E1328K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	4108	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1328						Missense_Mutation	SNP	ENST00000357550.2	37	c.3982G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151349	0.57151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.42900	0.96;0.96;0.96	5.09	5.09	0.68999	.	0.000000	0.38605	U	0.001637	T	0.50394	0.1613	M	0.67953	2.075	0.48571	D	0.999678	D;D	0.59767	0.986;0.985	P;B	0.47705	0.555;0.41	T	0.53330	-0.8454	9	.	.	.	.	17.5095	0.87756	0.0:0.0:1.0:0.0	.	840;1328	F8W883;Q9Y6X6	.;MYO16_HUMAN	K	1328;1328;840	ENSP00000349145:E1328K;ENSP00000350160:E1328K;ENSP00000401633:E840K	.	E	+	1	0	MYO16	108577896	1.000000	0.71417	0.922000	0.36590	0.090000	0.18270	5.411000	0.66386	2.367000	0.80283	0.563000	0.77884	GAA		0.662	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		18	114	0	0	0	1	0	18	114				
BEND2	139105	broad.mit.edu	37	X	18195833	18195833	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:18195833C>T	ENST00000380033.4	-	10	1618	c.1486G>A	c.(1486-1488)Gta>Ata	p.V496I	BEND2_ENST00000380030.3_Missense_Mutation_p.V405I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	496	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATATTTTGTACGGCCAGCAAA	0.383																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1486-1488)Gta>Ata		BEN domain containing 2							244.0	230.0	235.0					X																	18195833		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18195833C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1486G>A	X.37:g.18195833C>T	ENSP00000369372:p.Val496Ile					BEND2_ENST00000380030.3_Missense_Mutation_p.V405I	p.V496I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			10	1618	-			496			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1486G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611613	0.28712	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.24723	1.86;1.84	5.39	4.53	0.55603	BEN domain (1);	0.172175	0.36409	N	0.002601	T	0.15912	0.0383	L	0.29908	0.895	0.09310	N	1	P;P	0.44946	0.846;0.846	B;B	0.31869	0.137;0.137	T	0.07501	-1.0769	10	0.49607	T	0.09	-2.2856	12.4523	0.55684	0.0:0.9153:0.0:0.0847	.	405;496	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	I	496;405	ENSP00000369372:V496I;ENSP00000369369:V405I	ENSP00000369369:V405I	V	-	1	0	BEND2	18105754	0.953000	0.32496	0.006000	0.13384	0.002000	0.02628	2.330000	0.43885	1.066000	0.40716	-0.190000	0.12839	GTA		0.383	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		7	905	0	0	0	1	0	7	905				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			7	107	0	0	0	1	0	7	107				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	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	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	93	0	0	0	1	0	41	93				
SLC5A12	159963	broad.mit.edu	37	11	26743035	26743035	+	Missense_Mutation	SNP	C	C	T	rs142065702		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:26743035C>T	ENST00000396005.3	-	1	536	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	76					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.R76L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCCCCAAAGCGGTAGACTTC	0.512																																						ENST00000396005.3																			2	Substitution - Missense(2)	p.R76L(2)	lung(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(226-228)cGc>cAc		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	92.0	92.0		227	5.6	1.0	11	dbSNP_134	92	0,8598		0,0,4299	no	missense	SLC5A12	NM_178498.3	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	76/619	26743035	1,13003	2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743035C>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.227G>A	11.37:g.26743035C>T	ENSP00000379326:p.Arg76His					SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	p.R76H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			1	536	-			76					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.227G>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467643	0.63625	2.27E-4	0.0	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87966	-2.32;-2.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.89567	0.6752	M	0.73962	2.25	0.53688	D	0.99997	B;P	0.50617	0.227;0.937	B;P	0.47015	0.082;0.534	D	0.88612	0.3157	10	0.35671	T	0.21	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	76;76	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	H	76	ENSP00000379326:R76H;ENSP00000280467:R76H	ENSP00000280467:R76H	R	-	2	0	SLC5A12	26699611	0.985000	0.35326	1.000000	0.80357	0.898000	0.52572	2.683000	0.46943	2.643000	0.89663	0.585000	0.79938	CGC		0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		50	221	0	0	0	1	0	50	221				
RBM38	55544	broad.mit.edu	37	20	55966783	55966783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:55966783C>A	ENST00000356208.5	+	1	321	c.146C>A	c.(145-147)tCg>tAg	p.S49*	RBM38_ENST00000371219.2_5'Flank|RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000440234.2_Nonsense_Mutation_p.S49*	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	49	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			ACCGACGCCTCGCTCAGGAAG	0.677																																						ENST00000356208.5																			0				large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(145-147)tCg>tAg		RNA binding motif protein 38							14.0	19.0	17.0					20																	55966783		1946	4113	6059	SO:0001587	stop_gained	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55966783C>A	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.146C>A	20.37:g.55966783C>A	ENSP00000348538:p.Ser49*					RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000440234.2_Nonsense_Mutation_p.S49*	p.S49*	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		1	321	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		49			RRM.		A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Nonsense_Mutation	SNP	ENST00000356208.5	37	c.146C>A	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322144	0.81580	.	.	ENSG00000132819	ENST00000356208;ENST00000440234	.	.	.	3.49	3.49	0.39957	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6071	13.737	0.62824	0.0:1.0:0.0:0.0	.	.	.	.	X	49	.	ENSP00000343718:S49X	S	+	2	0	RBM38	55400189	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	1.488000	0.35551	1.500000	0.48636	0.442000	0.29010	TCG		0.677	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		8	32	1	0	1.12685e-05	1	1.18149e-05	8	32				
COIL	8161	broad.mit.edu	37	17	55019406	55019406	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:55019406T>A	ENST00000240316.4	-	6	1671	c.1637A>T	c.(1636-1638)cAg>cTg	p.Q546L	RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	546	Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTTGCTCTCCTGTGTCACAGC	0.468																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1636-1638)cAg>cTg		coilin							164.0	140.0	148.0					17																	55019406		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55019406T>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1637A>T	17.37:g.55019406T>A	ENSP00000240316:p.Gln546Leu						p.Q546L	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			6	1671	-	Breast(9;6.15e-08)		546					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1637A>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317803	0.81469	.	.	ENSG00000121058	ENST00000240316	T	0.36699	1.24	4.89	4.89	0.63831	.	0.065204	0.64402	D	0.000004	T	0.51176	0.1659	M	0.70275	2.135	0.49915	D	0.999837	D	0.54047	0.964	P	0.54346	0.749	T	0.57183	-0.7855	10	0.87932	D	0	-15.4194	13.0734	0.59074	0.0:0.0:0.0:1.0	.	546	P38432	COIL_HUMAN	L	546	ENSP00000240316:Q546L	ENSP00000240316:Q546L	Q	-	2	0	COIL	52374405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.499000	0.45372	1.962000	0.57031	0.455000	0.32223	CAG		0.468	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			4	312	0	0	0	1	0	4	312				
FAM86A	196483	broad.mit.edu	37	16	5135725	5135725	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:5135725C>T	ENST00000427587.4	-	8	969	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R|ALG1_ENST00000592661.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	301						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CATCTGATCCCGGCCCGGCCT	0.562																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(901-903)Ggg>Agg		family with sequence similarity 86, member A							115.0	106.0	109.0					16																	5135725		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5135725C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.901G>A	16.37:g.5135725C>T	ENSP00000398502:p.Gly301Arg					FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R	p.G301R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			8	969	-			301					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.901G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968842	0.34754	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.32023	1.47;1.47	4.36	2.41	0.29592	.	1.680010	0.03534	U	0.222902	T	0.27278	0.0669	L	0.36672	1.1	0.30917	N	0.728407	P;B	0.35700	0.516;0.157	B;B	0.34138	0.176;0.067	T	0.29212	-1.0019	10	0.49607	T	0.09	.	7.6181	0.28169	0.0:0.801:0.0:0.199	.	267;301	Q96G04-2;Q96G04	.;FA86A_HUMAN	R	267;301	ENSP00000389710:G267R;ENSP00000398502:G301R	ENSP00000398502:G301R	G	-	1	0	FAM86A	5075726	0.884000	0.30299	0.088000	0.20740	0.153000	0.21895	1.539000	0.36104	0.595000	0.29777	0.484000	0.47621	GGG		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		6	417	0	0	0	1	0	6	417				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	153	0	0	0	1	0	5	153				
LTBP1	4052	broad.mit.edu	37	2	33487847	33487847	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:33487847C>T	ENST00000404816.2	+	14	2830	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	826					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCCAGCTGTCTCCAGGCATT	0.398																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2476-2478)tCt>tTt		latent transforming growth factor beta binding protein 1							78.0	79.0	79.0					2																	33487847		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33487847C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2477C>T	2.37:g.33487847C>T	ENSP00000386043:p.Ser826Phe					LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F|LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F	p.S826F			Q14766	LTBP1_HUMAN			14	2830	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	826					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2477C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372043	0.82573	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	D;T;T;T;T;T;T;T;T	0.81659	-1.52;-1.48;-1.42;-1.39;-1.4;-1.39;-1.4;1.66;0.2	5.29	5.29	0.74685	.	.	.	.	.	D	0.87030	0.6076	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.979;0.999;0.947;0.999;0.999;0.999	D	0.85468	0.1171	9	0.35671	T	0.21	.	18.0174	0.89246	0.0:1.0:0.0:0.0	.	826;500;447;500;500;826	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	826;826;500;500;447;447;500;154;143	ENSP00000386043:S826F;ENSP00000346467:S826F;ENSP00000374653:S500F;ENSP00000393057:S500F;ENSP00000384373:S447F;ENSP00000385359:S447F;ENSP00000384091:S500F;ENSP00000415412:S154F;ENSP00000417591:S143F	ENSP00000346467:S826F	S	+	2	0	LTBP1	33341351	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.160000	0.71862	2.490000	0.84030	0.650000	0.86243	TCT		0.398	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		23	164	0	0	0	1	0	23	164				
FNDC1	84624	broad.mit.edu	37	6	159646578	159646578	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:159646578T>C	ENST00000297267.9	+	8	1096	c.896T>C	c.(895-897)gTg>gCg	p.V299A	FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	299	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGTACACCGTGCGCTATCGA	0.463																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(895-897)gTg>gCg		fibronectin type III domain containing 1							238.0	236.0	237.0					6																	159646578		1976	4164	6140	SO:0001583	missense	84624					extracellular region		g.chr6:159646578T>C	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.896T>C	6.37:g.159646578T>C	ENSP00000297267:p.Val299Ala					FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A	p.V299A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	8	1096	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	299			Fibronectin type-III 3.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.896T>C	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101834	0.76983	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.68624	-0.34;-0.34	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81083	0.4749	M	0.86028	2.79	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84681	0.0717	10	0.87932	D	0	-20.4318	16.2108	0.82158	0.0:0.0:0.0:1.0	.	299;299	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	A	299	ENSP00000297267:V299A;ENSP00000342460:V299A	ENSP00000297267:V299A	V	+	2	0	FNDC1	159566566	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.603000	0.82811	2.232000	0.73038	0.533000	0.62120	GTG		0.463	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		138	492	0	0	0	1	0	138	492				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			12	134	0	0	0	1	0	12	134				
ZNF528	84436	broad.mit.edu	37	19	52919334	52919334	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52919334G>C	ENST00000360465.3	+	7	1655	c.1229G>C	c.(1228-1230)gGa>gCa	p.G410A	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGACCTTATGGATGCAGTCAG	0.403																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1228-1230)gGa>gCa		zinc finger protein 528							75.0	76.0	76.0					19																	52919334		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919334G>C	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1229G>C	19.37:g.52919334G>C	ENSP00000353652:p.Gly410Ala					ZNF528_ENST00000391788.2_3'UTR	p.G410A	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1655	+			410					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1229G>C	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	7.716	0.696068	0.15106	.	.	ENSG00000167555	ENST00000360465	T	0.35048	1.33	2.08	0.998	0.19857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.00637	-1.305	0.09310	N	1	B	0.30709	0.291	B	0.29663	0.105	T	0.17806	-1.0357	9	0.44086	T	0.13	.	3.0495	0.06165	0.5844:0.2488:0.1668:0.0	.	410	Q3MIS6	ZN528_HUMAN	A	410	ENSP00000353652:G410A	ENSP00000353652:G410A	G	+	2	0	ZNF528	57611146	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.943000	0.03917	0.074000	0.16767	-0.302000	0.09304	GGA		0.403	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		57	286	0	0	0	1	0	57	286				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		6	312	0	0	0	1	0	6	312				
ZNF789	285989	broad.mit.edu	37	7	99084376	99084376	+	Silent	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:99084376C>G	ENST00000331410.5	+	5	813	c.543C>G	c.(541-543)ccC>ccG	p.P181P	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATGGCAAACCCTTCAATCAAA	0.428																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(541-543)ccC>ccG		zinc finger protein 789							108.0	102.0	104.0					7																	99084376		2203	4300	6503	SO:0001819	synonymous_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084376C>G	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.543C>G	7.37:g.99084376C>G						ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	p.P181P	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	813	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		181					A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	c.543C>G	CCDS34693.1																																																																																				0.428	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		11	452	0	0	0	1	0	11	452				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000543101.1_5'Flank|ERCC8_ENST00000426742.2_5'Flank|ERCC8_ENST00000265038.5_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		5	84	0	0	0	1	0	5	84				
SYNGAP1	8831	broad.mit.edu	37	6	33419620	33419620	+	Silent	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:33419620A>C	ENST00000418600.2	+	19	4070	c.3969A>C	c.(3967-3969)ccA>ccC	p.P1323P	SYNGAP1_ENST00000428982.2_Silent_p.P1264P|ZBTB9_ENST00000395064.2_5'Flank|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1323					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCCAGCCCCACCACCCCCAC	0.627																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(3967-3969)ccA>ccC		synaptic Ras GTPase activating protein 1							6.0	6.0	6.0					6																	33419620		2159	4223	6382	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33419620A>C	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3969A>C	6.37:g.33419620A>C						SYNGAP1_ENST00000428982.2_Silent_p.P1264P|SYNGAP1_ENST00000496374.1_3'UTR	p.P1323P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			19	4070	+			1323					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.3969A>C	CCDS34434.2																																																																																				0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		4	21	0	0	0	1	0	4	21				
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114.0	119.0	117.0					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		7	485	0	0	0	1	0	7	485				
GPR161	23432	broad.mit.edu	37	1	168066276	168066276	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:168066276G>A	ENST00000367838.1	-	5	882	c.569C>T	c.(568-570)gCc>gTc	p.A190V	GPR161_ENST00000546300.1_Missense_Mutation_p.A76V|GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V|GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V|GPR161_ENST00000367835.1_Missense_Mutation_p.A190V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	190					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTGCCAGAAGGCCGTGTAGCC	0.592																																						ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(568-570)gCc>gTc		G protein-coupled receptor 161							71.0	60.0	64.0					1																	168066276		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168066276G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.569C>T	1.37:g.168066276G>A	ENSP00000356812:p.Ala190Val					GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V|GPR161_ENST00000546300.1_Missense_Mutation_p.A76V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000367835.1_Missense_Mutation_p.A190V	p.A190V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			5	882	-	all_hematologic(923;0.215)		190					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.569C>T	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032295	0.35893	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.07	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.102442	0.64402	N	0.000003	T	0.30665	0.0772	N	0.16098	0.37	0.38353	D	0.944394	B;B;B;B;B;B	0.13145	0.001;0.007;0.006;0.002;0.001;0.001	B;B;B;B;B;B	0.17722	0.003;0.019;0.018;0.006;0.001;0.005	T	0.08146	-1.0736	9	0.30078	T	0.28	-16.4128	12.5826	0.56399	0.0834:0.0:0.9166:0.0	.	210;76;112;210;190;190	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	V	190;190;58;190;76;112;210;190	ENSP00000356812:A190V;ENSP00000271357:A190V;ENSP00000356810:A58V;ENSP00000356809:A190V;ENSP00000444348:A76V;ENSP00000437576:A112V;ENSP00000441039:A210V;ENSP00000355194:A190V	ENSP00000271357:A190V	A	-	2	0	GPR161	166332900	1.000000	0.71417	0.922000	0.36590	0.974000	0.67602	4.756000	0.62205	1.242000	0.43836	0.561000	0.74099	GCC		0.592	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		24	112	0	0	0	1	0	24	112				
HSPE1	3336	broad.mit.edu	37	2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_3'UTR|HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5																			0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118.0	123.0	121.0					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile					HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|MOB4_ENST00000604458.1_Intron	p.V101I	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		4	744	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		7	402	0	0	0	1	0	7	402				
LRP1	4035	broad.mit.edu	37	12	57594247	57594247	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:57594247G>A	ENST00000243077.3	+	63	10503	c.10037G>A	c.(10036-10038)tGc>tAc	p.C3346Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3346	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACGACAAGTGCATCCCCTTC	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10036-10038)tGc>tAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						46.0	44.0	45.0					12																	57594247		2203	4299	6502	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57594247G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10037G>A	12.37:g.57594247G>A	ENSP00000243077:p.Cys3346Tyr						p.C3346Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	63	10503	+			3346			LDL-receptor class A 21.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10037G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652311	0.67472	.	.	ENSG00000123384	ENST00000243077	D	0.99919	-8.0	4.56	4.56	0.56223	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96047	0.9028	10	0.59425	D	0.04	.	16.3322	0.83039	0.0:0.0:1.0:0.0	.	3346	Q07954	LRP1_HUMAN	Y	3346	ENSP00000243077:C3346Y	ENSP00000243077:C3346Y	C	+	2	0	LRP1	55880514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.765000	0.85310	2.386000	0.81285	0.555000	0.69702	TGC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		72	215	0	0	0	1	0	72	215				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		7	253	0	0	0	1	0	7	253				
ERBB3	2065	broad.mit.edu	37	12	56495712	56495712	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:56495712A>G	ENST00000267101.3	+	28	4342	c.3902A>G	c.(3901-3903)cAg>cGg	p.Q1301R	PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R|ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1301					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGACATCAGGCCCCCCAT	0.537																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3901-3903)cAg>cGg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							107.0	117.0	113.0					12																	56495712		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495712A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3902A>G	12.37:g.56495712A>G	ENSP00000267101:p.Gln1301Arg					ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R|ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|RP11-603J24.9_ENST00000548861.1_Intron	p.Q1301R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		28	4342	+			1301					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3902A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	7.897	0.733645	0.15574	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78003	-1.0;-0.92;-0.99;-1.14;-0.88	5.39	4.26	0.50523	.	0.563354	0.17890	N	0.158548	T	0.56093	0.1962	N	0.14661	0.345	0.23855	N	0.996651	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37454	-0.9705	10	0.07482	T	0.82	.	8.109	0.30903	0.8379:0.0:0.1621:0.0	.	1242;421;1301	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	R	1301;658;1242;424;542;421	ENSP00000267101:Q1301R;ENSP00000399178:Q658R;ENSP00000408340:Q1242R;ENSP00000449129:Q542R;ENSP00000448729:Q421R	ENSP00000267101:Q1301R	Q	+	2	0	ERBB3	54781979	0.059000	0.20769	0.807000	0.32361	0.337000	0.28794	0.589000	0.23939	1.069000	0.40788	0.533000	0.62120	CAG		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	717	0	0	0	1	0	6	717				
ISX	91464	broad.mit.edu	37	22	35463185	35463185	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:35463185G>A	ENST00000308700.6	+	1	1057	c.105G>A	c.(103-105)gcG>gcA	p.A35A	ISX_ENST00000404699.2_Silent_p.A35A|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	35					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCATTGAGGCGATCCTAAAGA	0.602																																						ENST00000308700.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(103-105)gcG>gcA		intestine-specific homeobox							39.0	40.0	40.0					22																	35463185		2203	4300	6503	SO:0001819	synonymous_variant	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463185G>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.105G>A	22.37:g.35463185G>A						ISX_ENST00000404699.2_Silent_p.A35A|RP1-272J12.1_ENST00000448318.4_RNA	p.A35A	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN			1	1057	+			35					Q68DJ5	Silent	SNP	ENST00000308700.6	37	c.105G>A	CCDS33640.1																																																																																				0.602	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		11	69	0	0	0	1	0	11	69				
UBA6	55236	broad.mit.edu	37	4	68501258	68501258	+	Silent	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:68501258T>C	ENST00000322244.5	-	20	1814	c.1755A>G	c.(1753-1755)ctA>ctG	p.L585L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	585					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAGAGGCCTTAGATTTGCTA	0.358																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1753-1755)ctA>ctG		ubiquitin-like modifier activating enzyme 6							103.0	96.0	98.0					4																	68501258		2203	4300	6503	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68501258T>C	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1755A>G	4.37:g.68501258T>C							p.L585L	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			20	1814	-			585					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.1755A>G	CCDS3516.1																																																																																				0.358	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		4	326	0	0	0	1	0	4	326				
FOXP2	93986	broad.mit.edu	37	7	114303542	114303542	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:114303542G>T	ENST00000393494.2	+	15	2086	c.1807G>T	c.(1807-1809)Ggc>Tgc	p.G603C	FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C|FOXP2_ENST00000408937.3_Missense_Mutation_p.G628C|FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C			O15409	FOXP2_HUMAN	forkhead box P2	603					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TACCAGTTTAGGCTATGGAGC	0.303																																						ENST00000408937.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1882-1884)Ggc>Tgc		forkhead box P2							98.0	98.0	98.0					7																	114303542		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114303542G>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1807G>T	7.37:g.114303542G>T	ENSP00000377132:p.Gly603Cys					FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000393494.2_Missense_Mutation_p.G603C	p.G628C	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			16	2256	+			603					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1882G>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853517	0.51270	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92099	-2.71;-2.7;-2.71;-2.71;-2.79;-2.97	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95001	0.8382	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.959;0.996;0.998	D	0.95345	0.8441	10	0.72032	D	0.01	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	602;620;418;603;628	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	C	603;628;620;603;580;511;418	ENSP00000377132:G603C;ENSP00000386200:G628C;ENSP00000385069:G620C;ENSP00000265436:G603C;ENSP00000377129:G511C;ENSP00000377130:G418C	ENSP00000265436:G603C	G	+	1	0	FOXP2	114090778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.486000	0.83907	0.650000	0.86243	GGC		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	397	1	0	0.000157383	1	0.000163038	6	397				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	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					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	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		10	783	1	0	2.31682e-05	1	2.41452e-05	10	783				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			10	143	0	0	0	1	0	10	143				
BHLHE22	27319	broad.mit.edu	37	8	65493724	65493724	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:65493724G>C	ENST00000321870.1	+	1	911	c.377G>C	c.(376-378)tGc>tCc	p.C126S	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	126	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCCGCCCTTTGCCTCAAGTAC	0.746																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(376-378)tGc>tCc		basic helix-loop-helix family, member e22							4.0	5.0	5.0					8																	65493724		1552	3322	4874	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493724G>C	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.377G>C	8.37:g.65493724G>C	ENSP00000318799:p.Cys126Ser					RP11-21C4.1_ENST00000517909.1_RNA	p.C126S	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	911	+			126			Gly-rich.			Missense_Mutation	SNP	ENST00000321870.1	37	c.377G>C	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029659	0.54790	.	.	ENSG00000180828	ENST00000321870	D	0.98747	-5.11	3.19	3.19	0.36642	.	0.153691	0.43747	U	0.000527	D	0.98065	0.9362	L	0.29908	0.895	0.50039	D	0.999844	D	0.71674	0.998	D	0.73708	0.981	D	0.98433	1.0583	10	0.59425	D	0.04	.	14.4812	0.67585	0.0:0.0:1.0:0.0	.	126	Q8NFJ8	BHE22_HUMAN	S	126	ENSP00000318799:C126S	ENSP00000318799:C126S	C	+	2	0	BHLHE22	65656278	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	5.668000	0.68074	1.787000	0.52448	0.455000	0.32223	TGC		0.746	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		3	41	0	0	0	1	0	3	41				
GRHL2	79977	broad.mit.edu	37	8	102585988	102585988	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:102585988A>G	ENST00000251808.3	+	6	1165	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	276					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGACAGTTCTATGCCATAACA	0.507																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(826-828)tAt>tGt		grainyhead-like 2 (Drosophila)							93.0	76.0	82.0					8																	102585988		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102585988A>G	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.827A>G	8.37:g.102585988A>G	ENSP00000251808:p.Tyr276Cys					GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	p.Y276C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		6	1165	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		276					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.827A>G	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501570	0.85176	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.38401	1.14;1.14	5.7	5.7	0.88788	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78107	-0.2333	10	0.87932	D	0	-14.6055	15.9541	0.79871	1.0:0.0:0.0:0.0	.	276;276	B4DL28;Q6ISB3	.;GRHL2_HUMAN	C	276;260;276	ENSP00000251808:Y276C;ENSP00000379260:Y260C	ENSP00000251808:Y276C	Y	+	2	0	GRHL2	102655164	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.307000	0.96226	2.167000	0.68274	0.528000	0.53228	TAT		0.507	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		132	147	0	0	0	1	0	132	147				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	276	0	0	0	1	0	4	276				
RTN3	10313	broad.mit.edu	37	11	63449189	63449189	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:63449189C>T	ENST00000377819.5	+	1	235	c.81C>T	c.(79-81)ggC>ggT	p.G27G	RTN3_ENST00000341307.2_Silent_p.G27G|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000354497.4_Silent_p.G27G|RTN3_ENST00000540798.1_Silent_p.G27G|RTN3_ENST00000356000.3_Silent_p.G27G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	27					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CGCCCGGCGGCGGCGGGAGCC	0.746																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(79-81)ggC>ggT		reticulon 3							10.0	14.0	13.0					11																	63449189		2093	4136	6229	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63449189C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.81C>T	11.37:g.63449189C>T						RTN3_ENST00000356000.3_Silent_p.G27G|RTN3_ENST00000540798.1_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000341307.2_Silent_p.G27G|RTN3_ENST00000354497.4_Silent_p.G27G	p.G27G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			1	235	+			27					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.81C>T	CCDS58141.1																																																																																				0.746	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		30	123	0	0	0	1	0	30	123				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			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.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		20	420	0	0	0	1	0	20	420				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	155	0	0	0	1	0	5	155				
TAOK1	57551	broad.mit.edu	37	17	27869675	27869675	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:27869675G>C	ENST00000261716.3	+	20	3160	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	881					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTTTGACTCTGAAAGCATGAG	0.473																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(2641-2643)Gaa>Caa		TAO kinase 1							158.0	154.0	156.0					17																	27869675		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27869675G>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2641G>C	17.37:g.27869675G>C	ENSP00000261716:p.Glu881Gln					TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	p.E881Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		20	3160	+			881					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.2641G>C	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650537	0.87958	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.57752	0.38;0.38	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.86178	2.8	0.27873	N	0.939969	D;D	0.89917	0.981;1.0	D;D	0.85130	0.932;0.997	T	0.73304	-0.4025	10	0.72032	D	0.01	.	19.5531	0.95330	0.0:0.0:1.0:0.0	.	733;881	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	Q	881;733	ENSP00000261716:E881Q;ENSP00000438819:E733Q	ENSP00000261716:E881Q	E	+	1	0	TAOK1	24893801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.623000	0.88846	0.561000	0.74099	GAA		0.473	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		92	499	0	0	0	1	0	92	499				
AMPD2	271	broad.mit.edu	37	1	110172959	110172959	+	Silent	SNP	G	G	A	rs368213563		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:110172959G>A	ENST00000256578.3	+	16	2610	c.2250G>A	c.(2248-2250)ccG>ccA	p.P750P	AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000393688.3_Silent_p.P631P|AMPD2_ENST00000528667.1_Silent_p.P750P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	750					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCGCTACCGGAGTACCTGT	0.617																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(2248-2250)ccG>ccA		adenosine monophosphate deaminase 2							155.0	158.0	157.0					1																	110172959		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110172959G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2250G>A	1.37:g.110172959G>A						AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000393688.3_Silent_p.P631P	p.P750P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	16	2610	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	750					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.2250G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.875|6.875	0.530795|0.530795	0.13127|0.13127	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000476688	.|.	.|.	.|.	4.66|4.66	-4.93|-4.93	0.03066|0.03066	.|.	.|.	.|.	.|.	.|.	T|T	0.17959|0.17959	0.0431|0.0431	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38735|0.38735	-0.9647|-0.9647	4|4	.|.	.|.	.|.	-21.0222|-21.0222	0.507|0.507	0.00589|0.00589	0.205:0.284:0.2159:0.2951|0.205:0.284:0.2159:0.2951	.|.	.|.	.|.	.|.	R|Q	721|139	.|.	.|.	G|R	+|+	1|2	0|0	AMPD2|AMPD2	109974482|109974482	0.000000|0.000000	0.05858|0.05858	0.630000|0.630000	0.29268|0.29268	0.705000|0.705000	0.40729|0.40729	-3.213000|-3.213000	0.00555|0.00555	-1.228000|-1.228000	0.02568|0.02568	-2.079000|-2.079000	0.00380|0.00380	GGA|CGG		0.617	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			125	538	0	0	0	1	0	125	538				
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	411	0	0	0	1	0	5	411				
DNAH10	196385	broad.mit.edu	37	12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T	rs372793754		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:124325980C>T	ENST00000409039.3	+	29	4919	c.4894C>T	c.(4894-4896)Cgg>Tgg	p.R1632W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R224W(1)|p.R1632W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453																																						ENST00000409039.3																			2	Substitution - Missense(2)	p.R224W(1)|p.R1632W(1)	kidney(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4894-4896)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	0,4018		0,0,2009	189.0	192.0	191.0		4894	4.3	0.6	12		191	1,8331		0,1,4165	no	missense	DNAH10	NM_207437.3	101	0,1,6174	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1632/4472	124325980	1,12349	2009	4166	6175	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124325980C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4894C>T	12.37:g.124325980C>T	ENSP00000386770:p.Arg1632Trp						p.R1632W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4919	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1632			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4894C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628344	0.28978	0.0	1.2E-4	ENSG00000197653	ENST00000409039	T	0.62105	0.05	5.23	4.33	0.51752	Dynein heavy chain, domain-2 (1);	0.404099	0.20619	U	0.088806	T	0.74168	0.3681	M	0.67397	2.05	0.09310	N	0.999997	D	0.76494	0.999	D	0.66979	0.948	T	0.65479	-0.6158	10	0.54805	T	0.06	.	11.2171	0.48833	0.1186:0.5932:0.2882:0.0	.	1632	Q8IVF4	DYH10_HUMAN	W	1632	ENSP00000386770:R1632W	ENSP00000386770:R1632W	R	+	1	2	DNAH10	122891933	0.255000	0.24002	0.606000	0.28943	0.075000	0.17131	1.122000	0.31295	1.201000	0.43203	0.561000	0.74099	CGG		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	596	0	0	0	1	0	5	596				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			8	227	0	0	0	1	0	8	227				
B4GALNT3	283358	broad.mit.edu	37	12	662878	662878	+	Missense_Mutation	SNP	G	G	A	rs202219145		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:662878G>A	ENST00000266383.5	+	14	1802	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	597					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGTGGCGGCCGCAGGCCAGGA	0.617																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1789-1791)Gca>Aca		beta-1,4-N-acetyl-galactosaminyl transferase 3							35.0	34.0	35.0					12																	662878		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662878G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1789G>A	12.37:g.662878G>A	ENSP00000266383:p.Ala597Thr						p.A597T	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1802	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		597					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1789G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	7.395	0.631635	0.14322	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32515	3.46;1.45	5.63	2.78	0.32641	.	0.762765	0.12432	N	0.469495	T	0.23886	0.0578	L	0.47716	1.5	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.001	T	0.30357	-0.9981	10	0.18276	T	0.48	-0.4872	7.5465	0.27770	0.0673:0.2194:0.601:0.1124	.	500;597	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	T	597;500	ENSP00000266383:A597T;ENSP00000322953:A500T	ENSP00000266383:A597T	A	+	1	0	B4GALNT3	533139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.620000	0.24403	0.309000	0.22966	-1.332000	0.01269	GCA		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		4	227	0	0	0	1	0	4	227				
SCN3A	6328	broad.mit.edu	37	2	165950907	165950907	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:165950907G>C	ENST00000360093.3	-	26	5004	c.4513C>G	c.(4513-4515)Cag>Gag	p.Q1505E	SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1505					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGTTTCTGAGGTTTCTTG	0.388																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4513-4515)Cag>Gag		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						351.0	336.0	341.0					2																	165950907		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165950907G>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4513C>G	2.37:g.165950907G>C	ENSP00000353206:p.Gln1505Glu					SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E	p.Q1505E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			26	5004	-			1505					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4513C>G		.	.	.	.	.	.	.	.	.	.	G	16.64	3.178549	0.57692	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96104	-3.91;-3.91;-3.84	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	D	0.97192	0.9082	H	0.94808	3.585	0.80722	D	1	P;P;B	0.47841	0.901;0.502;0.005	P;B;B	0.45881	0.496;0.118;0.019	D	0.98609	1.0662	10	0.72032	D	0.01	.	18.2045	0.89850	0.0:0.0:1.0:0.0	.	1456;1456;1505	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	E	1505;1505;1456	ENSP00000353206:Q1505E;ENSP00000283254:Q1505E;ENSP00000386726:Q1456E	ENSP00000283254:Q1505E	Q	-	1	0	SCN3A	165659153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.613000	0.88420	0.655000	0.94253	CAG		0.388	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		147	777	0	0	0	1	0	147	777				
CRHR1	1394	broad.mit.edu	37	17	43907805	43907805	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:43907805C>T	ENST00000398285.3	+	8	665	c.665C>T	c.(664-666)gCc>gTc	p.A222V	CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V|CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000314537.5_Missense_Mutation_p.A193V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	222					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGGTGACAGCCGCCTACAAC	0.632																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(577-579)gCc>gTc		corticotropin releasing hormone receptor 1							58.0	62.0	61.0					17																	43907805		2195	4300	6495	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907805C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.665C>T	17.37:g.43907805C>T	ENSP00000381333:p.Ala222Val					CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000398285.3_Missense_Mutation_p.A222V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V	p.A193V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	7	803	+	Colorectal(2;0.0416)		222					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.578C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750172	0.49257	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.39406	1.19;1.08;1.19;1.19;1.19	5.27	5.27	0.74061	GPCR, family 2-like (1);	0.099034	0.64402	D	0.000001	T	0.25938	0.0632	N	0.04297	-0.235	0.50467	D	0.999875	B;B;B;P;B;B	0.42871	0.268;0.201;0.122;0.792;0.268;0.268	B;B;B;P;B;B	0.46419	0.26;0.088;0.082;0.516;0.135;0.192	T	0.06935	-1.0799	10	0.23891	T	0.37	.	9.92	0.41459	0.0:0.9073:0.0:0.0927	.	193;222;92;92;153;193	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	18;92;222;193;193;153	ENSP00000293493:A18V;ENSP00000340522:A92V;ENSP00000381333:A222V;ENSP00000326060:A193V;ENSP00000344068:A153V	ENSP00000293493:A18V	A	+	2	0	CRHR1	41263586	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	6.091000	0.71406	2.462000	0.83206	0.561000	0.74099	GCC		0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			5	363	0	0	0	1	0	5	363				
PRAMEF11	440560	broad.mit.edu	37	1	12887241	12887241	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:12887241G>A	ENST00000535591.1	-	3	811	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	206					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAACGTAGCGAGAGACATCC	0.493																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(616-618)Cgc>Tgc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887241G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.616C>T	1.37:g.12887241G>A	ENSP00000439551:p.Arg206Cys						p.R206C	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	811	-			206						Missense_Mutation	SNP	ENST00000535591.1	37	c.616C>T	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	9.270	1.045480	0.19748	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.50813	0.73;0.73	1.14	-2.29	0.06805	.	1.275850	0.05537	N	0.565066	T	0.37679	0.1012	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.56916	0.809	T	0.10474	-1.0628	10	0.41790	T	0.15	.	0.2118	0.00157	0.2233:0.2342:0.2816:0.2609	.	206	O60813	PRA11_HUMAN	C	206;247;206	ENSP00000439551:R206C;ENSP00000391839:R206C	ENSP00000328783:R247C	R	-	1	0	PRAMEF11	12809828	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.054000	0.01399	-1.200000	0.02662	0.400000	0.26472	CGC		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		199	830	0	0	0	1	0	199	830				
NUP153	9972	broad.mit.edu	37	6	17669530	17669530	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:17669530C>T	ENST00000262077.2	-	7	1007	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	NUP153_ENST00000537253.1_Silent_p.L336L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	336					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTACAGAATTCAGAGGAGAAG	0.328																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(1006-1008)ctG>ctA		nucleoporin 153kDa							50.0	55.0	53.0					6																	17669530		2202	4297	6499	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17669530C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1008G>A	6.37:g.17669530C>T						NUP153_ENST00000537253.1_Silent_p.L336L	p.L336L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		7	1007	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	336					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.1008G>A	CCDS4541.1																																																																																				0.328	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			85	360	0	0	0	1	0	85	360				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	428	0	0	0	1	0	6	428				
AKAP12	9590	broad.mit.edu	37	6	151671524	151671524	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:151671524G>A	ENST00000253332.1	+	3	2187	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P	AKAP12_ENST00000402676.2_Silent_p.P666P|AKAP12_ENST00000359755.5_Silent_p.P561P|AKAP12_ENST00000354675.6_Silent_p.P568P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	666					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCCAAAGCCGGAAGAACCAA	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1996-1998)ccG>ccA		A kinase (PRKA) anchor protein 12							84.0	80.0	81.0					6																	151671524		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671524G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1998G>A	6.37:g.151671524G>A						AKAP12_ENST00000359755.5_Silent_p.P561P|AKAP12_ENST00000253332.1_Silent_p.P666P|AKAP12_ENST00000354675.6_Silent_p.P568P	p.P666P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2238	+		Ovarian(120;0.125)	666					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.1998G>A	CCDS5229.1																																																																																				0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			4	223	0	0	0	1	0	4	223				
NKD1	85407	broad.mit.edu	37	16	50664178	50664178	+	Missense_Mutation	SNP	C	C	T	rs377648064		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:50664178C>T	ENST00000268459.3	+	7	768	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	182	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAAGATGCTGCGGGTAAAGCT	0.592																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(544-546)Cgg>Tgg		naked cuticle homolog 1 (Drosophila)		C	TRP/ARG	0,4396		0,0,2198	80.0	70.0	74.0		544	3.9	1.0	16		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKD1	NM_033119.4	101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/471	50664178	1,12995	2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50664178C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.544C>T	16.37:g.50664178C>T	ENSP00000268459:p.Arg182Trp						p.R182W	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	7	768	+		all_cancers(37;0.229)	182			Interaction with DVL1, DVL2 and DVL3 (By similarity).		B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.544C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707405	0.48412	0.0	1.16E-4	ENSG00000140807	ENST00000268459	T	0.72505	-0.66	4.88	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86778	0.1977	10	0.87932	D	0	-22.9129	14.0418	0.64681	0.2725:0.7275:0.0:0.0	.	182	Q969G9	NKD1_HUMAN	W	182	ENSP00000268459:R182W	ENSP00000268459:R182W	R	+	1	2	NKD1	49221679	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.134000	0.50538	1.151000	0.42436	0.655000	0.94253	CGG		0.592	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			29	332	0	0	0	1	0	29	332				
LRP2	4036	broad.mit.edu	37	2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A	rs369600443		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACTTACCCGGCAAAAGGATG	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15832	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2509-2511)gCc>gTc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						117.0	114.0	115.0					2																	170115538		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170115538G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2510C>T	2.37:g.170115538G>A	ENSP00000263816:p.Ala837Val					LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	p.A837V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	17	2795	-			837					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2510C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098743	0.20552	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91295	-2.82;-2.82	5.77	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.770796	0.12440	N	0.468797	D	0.86239	0.5885	M	0.67953	2.075	0.27234	N	0.959321	B;B	0.29552	0.248;0.209	B;B	0.28553	0.091;0.035	T	0.75777	-0.3198	10	0.33141	T	0.24	.	1.5273	0.02528	0.4359:0.0:0.2681:0.296	.	700;837	E9PC35;P98164	.;LRP2_HUMAN	V	837;700	ENSP00000263816:A837V;ENSP00000409813:A700V	ENSP00000263816:A837V	A	-	2	0	LRP2	169823784	0.999000	0.42202	0.452000	0.26994	0.191000	0.23601	3.640000	0.54350	0.669000	0.31146	0.591000	0.81541	GCC		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	446	0	0	0	1	0	5	446				
TMEM132E	124842	broad.mit.edu	37	17	32953589	32953589	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:32953589C>T	ENST00000321639.5	+	2	839	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	171						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCATGCCTTCCGGGATGCCCG	0.711																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(511-513)Cgg>Tgg		transmembrane protein 132E							11.0	13.0	13.0					17																	32953589		2171	4243	6414	SO:0001583	missense	124842					integral to membrane		g.chr17:32953589C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.511C>T	17.37:g.32953589C>T	ENSP00000316532:p.Arg171Trp						p.R171W	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	839	+			171					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.511C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	18.86	3.713777	0.68730	.	.	ENSG00000181291	ENST00000321639	T	0.13420	2.59	5.17	1.84	0.25277	.	0.120858	0.56097	D	0.000034	T	0.24812	0.0602	L	0.48877	1.53	0.31168	N	0.703569	D	0.89917	1.0	D	0.67548	0.952	T	0.07790	-1.0754	10	0.56958	D	0.05	-14.7201	9.9255	0.41489	0.2791:0.5861:0.1348:0.0	.	171	Q6IEE7	T132E_HUMAN	W	171	ENSP00000316532:R171W	ENSP00000316532:R171W	R	+	1	2	TMEM132E	29977702	0.999000	0.42202	0.993000	0.49108	0.971000	0.66376	0.741000	0.26202	0.545000	0.28902	-0.294000	0.09567	CGG		0.711	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		17	75	0	0	0	1	0	17	75				
FANCA	2175	broad.mit.edu	37	16	89842201	89842201	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:89842201G>C	ENST00000389301.3	-	21	1879	c.1849C>G	c.(1849-1851)Ctg>Gtg	p.L617V	FANCA_ENST00000568369.1_Missense_Mutation_p.L617V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	617					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGGAGTACAGAGATGGGGGG	0.443			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(1849-1851)Ctg>Gtg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							52.0	46.0	48.0					16																	89842201		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89842201G>C	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1849C>G	16.37:g.89842201G>C	ENSP00000373952:p.Leu617Val					FANCA_ENST00000568369.1_Missense_Mutation_p.L617V|FANCA_ENST00000567284.2_5'UTR	p.L617V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	21	1879	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	617					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.1849C>G	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255899	0.22965	.	.	ENSG00000187741	ENST00000389301	D	0.85411	-1.98	5.03	-0.755	0.11061	.	0.494987	0.16475	N	0.212816	T	0.77246	0.4102	M	0.71581	2.175	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.20184	0.028;0.016	T	0.67898	-0.5551	10	0.66056	D	0.02	-1.1651	1.6061	0.02684	0.3053:0.1378:0.4164:0.1405	.	617;617	B4DRI7;O15360	.;FANCA_HUMAN	V	617	ENSP00000373952:L617V	ENSP00000373952:L617V	L	-	1	2	FANCA	88369702	0.000000	0.05858	0.008000	0.14137	0.759000	0.43091	-0.464000	0.06688	-0.023000	0.13963	0.650000	0.86243	CTG		0.443	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			13	109	0	0	0	1	0	13	109				
FBXO40	51725	broad.mit.edu	37	3	121341863	121341863	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:121341863G>A	ENST00000338040.4	+	3	2001	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	529					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTCCCCCAGGGCAAAAGGCAA	0.498																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1585-1587)ggG>ggA		F-box protein 40							54.0	52.0	53.0					3																	121341863		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341863G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1587G>A	3.37:g.121341863G>A							p.G529G	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	2001	+			529					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.1587G>A	CCDS33835.1																																																																																				0.498	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		5	273	0	0	0	1	0	5	273				
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	lincRNA	SNP	T	T	C	rs80149641		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323																																						ENST00000423385.1																			0																																																			0							g.chr1:142803493T>C																													1.37:g.142803493T>C														0	1472	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.323	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			14	200	0	0	0	1	0	14	200				
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	1224	0	0	0	1	0	10	1224				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		5	573	0	0	0	1	0	5	573				
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTCAAGTTTGCCAGTCACCTC	0.473																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(241-243)gGc>gAc		matrix metallopeptidase 13 (collagenase 3)							155.0	150.0	152.0					11																	102826101		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826101C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.242G>A	11.37:g.102826101C>T	ENSP00000260302:p.Gly81Asp					MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	270	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	81					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.242G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846161	0.91277	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90197	-2.63;-2.63	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	81	P45452	MMP13_HUMAN	D	81	ENSP00000260302:G81D;ENSP00000339672:G81D	ENSP00000260302:G81D	G	-	2	0	MMP13	102331311	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGC		0.473	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		7	691	0	0	0	1	0	7	691				
LY75	4065	broad.mit.edu	37	2	160738720	160738720	+	Silent	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:160738720C>A	ENST00000263636.4	-	7	1188	c.1161G>T	c.(1159-1161)gcG>gcT	p.A387A	LY75_ENST00000554112.1_Silent_p.A387A|LY75-CD302_ENST00000504764.1_Silent_p.A387A|LY75_ENST00000553424.1_Silent_p.A387A|LY75-CD302_ENST00000505052.1_Silent_p.A387A	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	387	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTTGCATTTCGCATGTGCCT	0.423																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1159-1161)gcG>gcT		lymphocyte antigen 75							151.0	145.0	147.0					2																	160738720		2203	4300	6503	SO:0001819	synonymous_variant	4065							g.chr2:160738720C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1161G>T	2.37:g.160738720C>A						LY75_ENST00000554112.1_Silent_p.A387A|LY75_ENST00000553424.1_Silent_p.A387A|LY75-CD302_ENST00000505052.1_Silent_p.A387A|LY75-CD302_ENST00000504764.1_Silent_p.A387A	p.A387A	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	7	1188	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.1161G>T	CCDS2211.1																																																																																				0.423	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			121	618	1	0	2.84668e-63	1	3.07798e-63	121	618				
RPS6KA6	27330	broad.mit.edu	37	X	83319323	83319323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:83319323G>A	ENST00000262752.2	-	22	2207	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	734					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGCTCCGTCGCTGGGCTAAG	0.458																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(2200-2202)Cga>Tga		ribosomal protein S6 kinase, 90kDa, polypeptide 6							97.0	78.0	84.0					X																	83319323		2203	4300	6503	SO:0001587	stop_gained	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83319323G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2200C>T	X.37:g.83319323G>A	ENSP00000262752:p.Arg734*					RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	p.R734*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			22	2207	-			734					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Nonsense_Mutation	SNP	ENST00000262752.2	37	c.2200C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373426	0.95923	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	5.11	2.15	0.27550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2327	0.59953	0.0:0.0:0.5813:0.4187	.	.	.	.	X	734	.	ENSP00000262752:R734X	R	-	1	2	RPS6KA6	83205979	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.126000	0.50477	0.011000	0.14865	0.600000	0.82982	CGA		0.458	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		33	103	0	0	0	1	0	33	103				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	509	0	0	0	1	0	6	509				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	240	0	0	0	1	0	6	240				
WDR78	79819	broad.mit.edu	37	1	67303362	67303362	+	Intron	SNP	T	T	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:67303362T>G	ENST00000371026.3	-	10	1637				WDR78_ENST00000431318.1_Intron|WDR78_ENST00000371023.3_Missense_Mutation_p.I538L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AACAGCCAGATAAAAATGCTT	0.299																																						ENST00000371023.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1612-1614)Atc>Ctc		WD repeat domain 78							51.0	50.0	50.0					1																	67303362		2203	4300	6503	SO:0001627	intron_variant	79819							g.chr1:67303362T>G	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1581+30A>C	1.37:g.67303362T>G						WDR78_ENST00000431318.1_Intron|WDR78_ENST00000371026.3_Intron	p.I538L	NM_207014.2	NP_996897.2	Q5VTH9	WDR78_HUMAN			10	1620	-			0					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1612A>C	CCDS635.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958846	0.34565	.	.	ENSG00000152763	ENST00000371023;ENST00000531552	T;T	0.30182	2.23;1.54	5.32	2.91	0.33838	.	.	.	.	.	T	0.06462	0.0166	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20773	-1.0265	7	0.87932	D	0	.	4.8925	0.13733	0.1666:0.0922:0.0:0.7412	.	.	.	.	L	538;160	ENSP00000360062:I538L;ENSP00000433037:I160L	ENSP00000360062:I538L	I	-	1	0	WDR78	67075950	0.592000	0.26832	0.047000	0.18901	0.027000	0.11550	1.159000	0.31749	0.919000	0.36945	0.533000	0.62120	ATC		0.299	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		59	176	0	0	0	1	0	59	176				
ACAP2	23527	broad.mit.edu	37	3	195027329	195027329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:195027329C>T	ENST00000326793.6	-	13	1257	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCGGAATCTGCCTGGAGCATG	0.403																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1027-1029)Gca>Aca		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							126.0	126.0	126.0					3																	195027329		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195027329C>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1027G>A	3.37:g.195027329C>T	ENSP00000324287:p.Ala343Thr						p.A343T	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			13	1257	-			343			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1027G>A	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.136760|5.136760	0.94517|0.94517	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	T|.	0.78126|.	-1.15|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84552|0.84552	0.5497|0.5497	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.86482|0.86482	0.1792|0.1792	10|5	0.87932|.	D|.	0|.	.|.	18.7846|18.7846	0.91949|0.91949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	343|.	Q15057|.	ACAP2_HUMAN|.	T|D	343|217	ENSP00000324287:A343T|.	ENSP00000324287:A343T|.	A|G	-|-	1|2	0|0	ACAP2|ACAP2	196508618|196508618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.818000|7.818000	0.86416|0.86416	2.662000|2.662000	0.90505|0.90505	0.609000|0.609000	0.83330|0.83330	GCA|GGC		0.403	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		48	485	0	0	0	1	0	48	485				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121115981	121115981	+	lincRNA	SNP	C	C	T	rs201138873	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:121115981C>T	ENST00000437515.1	-	0	329					NR_104189.1																						CCACGGCCAACGTTCGCATTG	0.527																																						ENST00000437515.1																			0																																																			0							g.chr1:121115981C>T																													1.37:g.121115981C>T														0	329	-									RNA	SNP	ENST00000437515.1	37																																																																																						0.527	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			3	37	0	0	0	1	0	3	37				
KRT85	3891	broad.mit.edu	37	12	52760836	52760836	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(352-354)tgC>tgT		keratin 85							164.0	153.0	157.0					12																	52760836		2203	4296	6499	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760836G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.354C>T	12.37:g.52760836G>A							p.C118C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	429	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		118			Head.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.354C>T	CCDS8824.1																																																																																				0.632	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		129	606	0	0	0	1	0	129	606				
ZNF347	84671	broad.mit.edu	37	19	53644380	53644380	+	Silent	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:53644380T>C	ENST00000334197.7	-	5	1769	c.1701A>G	c.(1699-1701)aaA>aaG	p.K567K	ZNF347_ENST00000452676.2_Silent_p.K568K|ZNF347_ENST00000601469.2_Silent_p.K568K|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATTTGTAAGGTTTTTCTCCAG	0.413																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1702-1704)aaA>aaG		zinc finger protein 347							156.0	149.0	152.0					19																	53644380		2203	4298	6501	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644380T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1701A>G	19.37:g.53644380T>C						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.K568K|ZNF347_ENST00000334197.7_Silent_p.K567K	p.K568K	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2130	-			567					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1704A>G	CCDS33097.1																																																																																				0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		5	844	0	0	0	1	0	5	844				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72664015C>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G								NR_002164.1						0	885	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	71	0	0	0	1	0	4	71				
TTK	7272	broad.mit.edu	37	6	80720617	80720617	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:80720617A>T	ENST00000369798.2	+	5	667	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	TTK_ENST00000509894.1_Missense_Mutation_p.N186Y|TTK_ENST00000230510.3_Missense_Mutation_p.N186Y	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	186					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGCCCTGCGGAATTTAAACCT	0.363																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(556-558)Aat>Tat		TTK protein kinase							60.0	69.0	66.0					6																	80720617		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720617A>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.556A>T	6.37:g.80720617A>T	ENSP00000358813:p.Asn186Tyr					TTK_ENST00000369798.2_Missense_Mutation_p.N186Y|TTK_ENST00000230510.3_Missense_Mutation_p.N186Y	p.N186Y			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	1385	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	186					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.556A>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415177	0.83449	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.89123	-2.47;-2.47;-2.47	4.95	4.95	0.65309	.	0.090404	0.85682	D	0.000000	D	0.92061	0.7484	M	0.68952	2.095	0.50171	D	0.999852	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	D	0.93268	0.6649	10	0.87932	D	0	.	14.0796	0.64912	1.0:0.0:0.0:0.0	.	186;186	P33981;A8K8U5	TTK_HUMAN;.	Y	186	ENSP00000422936:N186Y;ENSP00000230510:N186Y;ENSP00000358813:N186Y	ENSP00000230510:N186Y	N	+	1	0	TTK	80777336	1.000000	0.71417	0.899000	0.35326	0.986000	0.74619	8.060000	0.89464	1.982000	0.57802	0.459000	0.35465	AAT		0.363	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			60	426	0	0	0	1	0	60	426				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		66	243	0	0	0	1	0	66	243				
SEC31B	25956	broad.mit.edu	37	10	102267770	102267770	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	SEC31B_ENST00000535773.1_Silent_p.R21R|SEC31B_ENST00000370329.5_Silent_p.R181R|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000451524.1_Silent_p.R178R|NDUFB8_ENST00000557395.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	178					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(532-534)cgG>cgA		SEC31 homolog B (S. cerevisiae)							191.0	164.0	173.0					10																	102267770		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102267770C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.534G>A	10.37:g.102267770C>T						SEC31B_ENST00000370329.5_Silent_p.R181R|SEC31B_ENST00000451524.1_Silent_p.R178R|NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R|NDUFB8_ENST00000531258.1_3'UTR	p.R178R	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	6	631	-		Colorectal(252;0.117)	178					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.534G>A	CCDS7495.1																																																																																				0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		6	506	0	0	0	1	0	6	506				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		10	1643	0	0	0	1	0	10	1643				
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20352	0.0		0.0	False		,,,				2504	0.0					ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(217-219)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	85.0	75.0	79.0		217,217	4.8	1.0	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	CHST15	NM_014863.2,NM_015892.3	180,180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	73/507,73/562	125805512	3,13003	2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805512G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.217C>T	10.37:g.125805512G>A	ENSP00000333947:p.Arg73Cys					CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000421115.1_Missense_Mutation_p.R73C	p.R73C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	859	-			73					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.217C>T	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	CHST15	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		0.453	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		6	408	0	0	0	1	0	6	408				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	279	0	0	0	1	0	5	279				
CHRNA9	55584	broad.mit.edu	37	4	40351405	40351405	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:40351405C>T	ENST00000310169.2	+	4	1011	c.872C>T	c.(871-873)cCg>cTg	p.P291L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	291					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GAAATCATGCCGGCCTCAGAA	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(871-873)cCg>cTg		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						70.0	76.0	74.0					4																	40351405		2202	4300	6502	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351405C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.872C>T	4.37:g.40351405C>T	ENSP00000312663:p.Pro291Leu						p.P291L	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	1011	+			291					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.872C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355172	0.82243	.	.	ENSG00000174343	ENST00000310169	D	0.99382	-5.8	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97219	0.9876	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	291	Q9UGM1	ACHA9_HUMAN	L	291	ENSP00000312663:P291L	ENSP00000312663:P291L	P	+	2	0	CHRNA9	40046162	1.000000	0.71417	0.979000	0.43373	0.662000	0.39071	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCG		0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			5	434	0	0	0	1	0	5	434				
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:10136015C>T	ENST00000419585.1	+	40	4092	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000287647.3_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3931-3933)Ccg>Tcg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							244.0	257.0	253.0					3																	10136015		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10136015C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3931C>T	3.37:g.10136015C>T	ENSP00000398754:p.Pro1311Ser					FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S	p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	40	4024	+			1311					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3931C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665905	0.88251	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.62788	-0.0;-0.0;-0.0	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81022	-0.1121	10	0.49607	T	0.09	.	12.6777	0.56903	0.0:0.9205:0.0:0.0795	.	1311;1311	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	S	1311	ENSP00000287647:P1311S;ENSP00000373318:P1311S;ENSP00000398754:P1311S	ENSP00000287647:P1311S	P	+	1	0	FANCD2	10111015	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.360000	0.79487	1.478000	0.48253	0.644000	0.83932	CCG		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			7	1100	0	0	0	1	0	7	1100				
UBALD2	283991	broad.mit.edu	37	17	74261669	74261669	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:74261669C>A	ENST00000327490.6	+	1	387	c.83C>A	c.(82-84)gCg>gAg	p.A28E	UBALD2_ENST00000589240.1_5'Flank	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	28																	GCCGACCAGGCGAAGCAGTTG	0.771																																						ENST00000327490.6																			0											c.(82-84)gCg>gAg		UBA-like domain containing 2							10.0	12.0	11.0					17																	74261669		2109	4182	6291	SO:0001583	missense	283991							g.chr17:74261669C>A		CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"""family with sequence similarity 100, member B"""	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.83C>A	17.37:g.74261669C>A	ENSP00000331298:p.Ala28Glu						p.A28E	NM_182565.3	NP_872371.1					1	387	+									Missense_Mutation	SNP	ENST00000327490.6	37	c.83C>A	CCDS11742.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576128	0.86645	.	.	ENSG00000185262	ENST00000327490	.	.	.	2.59	2.59	0.31030	UBA-like (1);	0.000000	0.56097	U	0.000040	T	0.75796	0.3898	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.78899	-0.2022	9	0.87932	D	0	-8.3367	10.3969	0.44207	0.0:1.0:0.0:0.0	.	28	Q8IYN6	F100B_HUMAN	E	28	.	ENSP00000331298:A28E	A	+	2	0	FAM100B	71773264	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.421000	0.59848	1.441000	0.47550	0.551000	0.68910	GCG		0.771	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		4	132	1	0	1	1	1	4	132				
EPHX1	2052	broad.mit.edu	37	1	226032215	226032215	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:226032215G>A	ENST00000366837.4	+	8	1253	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	353					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCTGGACGACCTGCTGAC	0.552																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1057-1059)Gac>Aac		epoxide hydrolase 1, microsomal (xenobiotic)							130.0	108.0	115.0					1																	226032215		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226032215G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1057G>A	1.37:g.226032215G>A	ENSP00000355802:p.Asp353Asn					EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N|RP11-285F7.2_ENST00000424332.1_RNA	p.D353N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			8	1253	+	Breast(184;0.197)		353					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1057G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973433	0.92919	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.75704	-0.96;-0.96	5.37	5.37	0.77165	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	M	0.90814	3.15	0.80722	D	1	D	0.60160	0.987	P	0.62649	0.905	D	0.90256	0.4297	10	0.72032	D	0.01	-22.9316	19.464	0.94931	0.0:0.0:1.0:0.0	.	353	P07099	HYEP_HUMAN	N	353	ENSP00000272167:D353N;ENSP00000355802:D353N	ENSP00000272167:D353N	D	+	1	0	EPHX1	224098838	1.000000	0.71417	0.800000	0.32199	0.506000	0.33950	7.817000	0.86213	2.686000	0.91538	0.561000	0.74099	GAC		0.552	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		53	236	0	0	0	1	0	53	236				
ITGA6	3655	broad.mit.edu	37	2	173356027	173356027	+	Missense_Mutation	SNP	C	C	T	rs556687135		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:173356027C>T	ENST00000264106.6	+	23	3177	c.2974C>T	c.(2974-2976)Cgc>Tgc	p.R992C	ITGA6_ENST00000409532.1_Missense_Mutation_p.R834C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R948C|ITGA6_ENST00000375221.2_Missense_Mutation_p.R992C|ITGA6_ENST00000409080.1_Missense_Mutation_p.R953C|ITGA6_ENST00000264107.7_Missense_Mutation_p.R953C|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	992					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTATTTTGCGCTCGAGGTT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19027	0.001		0.0	False		,,,				2504	0.0					ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(2974-2976)Cgc>Tgc		integrin, alpha 6							135.0	134.0	135.0					2																	173356027		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173356027C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2974C>T	2.37:g.173356027C>T	ENSP00000264106:p.Arg992Cys					ITGA6_ENST00000409080.1_Missense_Mutation_p.R953C|ITGA6_ENST00000264107.7_Missense_Mutation_p.R953C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R948C|ITGA6_ENST00000409532.1_Missense_Mutation_p.R834C|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.R992C	p.R992C			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		23	3177	+			992					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2974C>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.671175	0.47781	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.21	5.21	0.72293	.	0.095115	0.64402	D	0.000002	T	0.55114	0.1900	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72338	0.954;0.969;0.969;0.977	T	0.62134	-0.6918	10	0.66056	D	0.02	.	13.6878	0.62526	0.1545:0.8455:0.0:0.0	.	948;977;953;953	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	C	834;953;992;992;948;953;992;948;120	ENSP00000386614:R834C;ENSP00000264107:R953C;ENSP00000264106:R992C;ENSP00000364369:R992C;ENSP00000341078:R948C;ENSP00000386896:R953C;ENSP00000406694:R992C;ENSP00000394169:R948C;ENSP00000388435:R120C	ENSP00000264106:R992C	R	+	1	0	ITGA6	173064273	1.000000	0.71417	0.982000	0.44146	0.210000	0.24377	2.670000	0.46833	2.432000	0.82394	0.467000	0.42956	CGC		0.493	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				6	555	0	0	0	1	0	6	555				
ZNF175	7728	broad.mit.edu	37	19	52090881	52090881	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52090881A>G	ENST00000262259.2	+	5	1655	c.1297A>G	c.(1297-1299)Aca>Gca	p.T433A	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	433					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCAGAAGTCAACACTCAGCTT	0.473																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1297-1299)Aca>Gca		zinc finger protein 175							69.0	66.0	67.0					19																	52090881		2203	4299	6502	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090881A>G	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1297A>G	19.37:g.52090881A>G	ENSP00000262259:p.Thr433Ala					ZNF175_ENST00000436511.2_Intron	p.T433A	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1655	+		all_neural(266;0.0299)	433					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1297A>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	A	7.325	0.617711	0.14129	.	.	ENSG00000105497	ENST00000262259	T	0.35421	1.31	2.39	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11537	0.0281	N	0.03238	-0.38	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.30650	-0.9971	9	0.08381	T	0.77	.	3.2726	0.06887	0.3719:0.0:0.4173:0.2107	.	433	Q9Y473	ZN175_HUMAN	A	433	ENSP00000262259:T433A	ENSP00000262259:T433A	T	+	1	0	ZNF175	56782693	0.000000	0.05858	0.677000	0.29947	0.993000	0.82548	-1.388000	0.02533	-0.348000	0.08286	-0.290000	0.09829	ACA		0.473	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		44	175	0	0	0	1	0	44	175				
FBN1	2200	broad.mit.edu	37	15	48707785	48707785	+	Missense_Mutation	SNP	C	C	T	rs149062442		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:48707785C>T	ENST00000316623.5	-	64	8454	c.7999G>A	c.(7999-8001)Gag>Aag	p.E2667K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2667	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAACCGCCCTCGGTATTGGAA	0.542																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7999-8001)Gag>Aag		fibrillin 1		C	LYS/GLU	1,4395	2.1+/-5.4	0,1,2197	85.0	75.0	79.0		7999	5.8	1.0	15	dbSNP_134	79	1,8591	1.2+/-3.3	0,1,4295	no	missense	FBN1	NM_000138.4	56	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	benign	2667/2872	48707785	2,12986	2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48707785C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7999G>A	15.37:g.48707785C>T	ENSP00000325527:p.Glu2667Lys					FBN1_ENST00000561429.1_5'UTR	p.E2667K	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	64	8454	-		all_lung(180;0.00279)	2667			EGF-like 47; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7999G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651521	0.47362	2.27E-4	1.16E-4	ENSG00000166147	ENST00000316623	D	0.87412	-2.25	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.155020	0.64402	D	0.000019	T	0.74329	0.3702	N	0.16266	0.395	0.80722	D	1	P	0.44090	0.826	B	0.34452	0.183	T	0.76063	-0.3096	10	0.06099	T	0.92	.	18.8343	0.92155	0.0:1.0:0.0:0.0	.	2667	P35555	FBN1_HUMAN	K	2667	ENSP00000325527:E2667K	ENSP00000325527:E2667K	E	-	1	0	FBN1	46495077	1.000000	0.71417	0.988000	0.46212	0.657000	0.38888	4.893000	0.63199	2.745000	0.94114	0.655000	0.94253	GAG		0.542	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			81	241	0	0	0	1	0	81	241				
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145.0	129.0	134.0					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	368	0	0	0	1	0	5	368				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	498	0	0	0	1	0	8	498				
ADAMTS2	9509	broad.mit.edu	37	5	178552067	178552067	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:178552067G>A	ENST00000251582.7	-	19	2966	c.2865C>T	c.(2863-2865)caC>caT	p.H955H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGTGCTTGGCGTGCACGGAGC	0.692																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2863-2865)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							100.0	102.0	101.0					5																	178552067		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552067G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2865C>T	5.37:g.178552067G>A							p.H955H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2966	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	955			TSP type-1 3.			Silent	SNP	ENST00000251582.7	37	c.2865C>T	CCDS4444.1																																																																																				0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	848	0	0	0	1	0	6	848				
AP1S2	8905	broad.mit.edu	37	X	15870623	15870623	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:15870623G>A	ENST00000329235.2	-	2	268	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	AP1S2_ENST00000421527.2_Missense_Mutation_p.R51C|AP1S2_ENST00000545766.1_Missense_Mutation_p.R51C|AP1S2_ENST00000380291.1_Missense_Mutation_p.R9C	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	9					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					tttccctgacgactaaaAAGC	0.338																																						ENST00000380291.1																			0				large_intestine(1)	1						c.(25-27)Cgt>Tgt		adaptor-related protein complex 1, sigma 2 subunit							91.0	76.0	81.0					X																	15870623		2203	4300	6503	SO:0001583	missense	8905				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity	g.chrX:15870623G>A	AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"""mental retardation, X-linked 59"", ""mental retardation, X-linked, syndromic 5"", ""Pettigrew X-linked mental retardation syndrome"""	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.25C>T	X.37:g.15870623G>A	ENSP00000328789:p.Arg9Cys					AP1S2_ENST00000545766.1_Missense_Mutation_p.R51C|AP1S2_ENST00000329235.2_Missense_Mutation_p.R9C|AP1S2_ENST00000421527.2_Missense_Mutation_p.R51C	p.R9C			P56377	AP1S2_HUMAN			2	141	-	Hepatocellular(33;0.183)		9					B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	ENST00000329235.2	37	c.25C>T	CCDS14173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.40|17.40	3.381347|3.381347	0.61845|0.61845	.|.	.|.	ENSG00000182287|ENSG00000182287	ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000452376	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Longin-like (1);AP complex, mu/sigma subunit (1);|.	0.057724|.	0.64402|.	N|.	0.000003|.	D|D	0.85716|0.85716	0.5761|0.5761	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	B;P;P;P;P;P|.	0.44946|.	0.296;0.846;0.78;0.554;0.554;0.718|.	B;B;B;B;B;B|.	0.42495|.	0.127;0.203;0.261;0.389;0.389;0.337|.	D|D	0.88336|0.88336	0.2971|0.2971	9|6	0.87932|0.87932	D|D	0|0	-9.971|-9.971	19.1122|19.1122	0.93321|0.93321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	9;51;51;9;9;6|.	B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.	.;.;.;.;AP1S2_HUMAN;.|.	C|L	9;9;51;51;6|5	.|.	ENSP00000328789:R9C|ENSP00000403498:S5L	R|S	-|-	1|2	0|0	AP1S2|AP1S2	15780544|15780544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.090000|6.090000	0.71397|0.71397	2.463000|2.463000	0.83235|0.83235	0.600000|0.600000	0.82982|0.82982	CGT|TCG		0.338	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055893.1	NM_003916		5	483	0	0	0	1	0	5	483				
CCDC149	91050	broad.mit.edu	37	4	24839847	24839847	+	Silent	SNP	G	G	A	rs370337373		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:24839847G>A	ENST00000389609.4	-	6	563	c.420C>T	c.(418-420)atC>atT	p.I140I	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Silent_p.I140I	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	85										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GTCGCACGCCGATTGCTTCGT	0.483																																						ENST00000504487.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(418-420)atC>atT		coiled-coil domain containing 149		G	,	0,4406		0,0,2203	149.0	134.0	139.0		420,420	-4.9	0.5	4		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CCDC149	NM_001130726.2,NM_173463.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	140/530,140/530	24839847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91050							g.chr4:24839847G>A		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.420C>T	4.37:g.24839847G>A						CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Silent_p.I140I|CCDC149_ENST00000502801.1_Intron	p.I140I	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN			5	426	-		Breast(46;0.173)	140					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	c.420C>T	CCDS33967.2																																																																																				0.483	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		5	468	0	0	0	1	0	5	468				
SLC32A1	140679	broad.mit.edu	37	20	37356232	37356232	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:37356232C>T	ENST00000217420.1	+	2	791	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	176					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGAATGAAGACGGCGAGGTGG	0.647																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(526-528)gaC>gaT		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						77.0	62.0	67.0					20																	37356232		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356232C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.528C>T	20.37:g.37356232C>T							p.D176D	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	791	+		Myeloproliferative disorder(115;0.00878)	176					Q8N489	Silent	SNP	ENST00000217420.1	37	c.528C>T	CCDS13307.1																																																																																				0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		48	191	0	0	0	1	0	48	191				
GPAT2	150763	broad.mit.edu	37	2	96690527	96690527	+	Silent	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:96690527A>G	ENST00000434632.1	-	15	1881	c.1422T>C	c.(1420-1422)caT>caC	p.H474H	GPAT2_ENST00000453542.1_Silent_p.H403H|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Silent_p.H474H|GPAT2_ENST00000377137.3_Silent_p.H474H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	474					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTACCTTCTGATGCTTGAAGA	0.652																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1420-1422)caT>caC		glycerol-3-phosphate acyltransferase 2, mitochondrial							120.0	130.0	126.0					2																	96690527		2044	4171	6215	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690527A>G	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1422T>C	2.37:g.96690527A>G						GPAT2_ENST00000377137.3_Silent_p.H474H|GPAT2_ENST00000359548.4_Silent_p.H474H|GPAT2_ENST00000453542.1_Silent_p.H403H	p.H474H			Q6NUI2	GPAT2_HUMAN			15	1881	-			474					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1422T>C	CCDS42714.1																																																																																				0.652	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		25	675	0	0	0	1	0	25	675				
DLD	1738	broad.mit.edu	37	7	107546792	107546792	+	Silent	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:107546792A>C	ENST00000205402.5	+	8	944	c.663A>C	c.(661-663)gcA>gcC	p.A221A	DLD_ENST00000437604.2_Silent_p.A173A|DLD_ENST00000440410.1_Silent_p.A198A|DLD_ENST00000537148.1_Silent_p.A122A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	221					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TTATTGGTGCAGGAGTAATAG	0.348																																						ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(661-663)gcA>gcC		dihydrolipoamide dehydrogenase	NADH(DB00157)						146.0	157.0	153.0					7																	107546792		2203	4300	6503	SO:0001819	synonymous_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107546792A>C	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.663A>C	7.37:g.107546792A>C						DLD_ENST00000537148.1_Silent_p.A122A|DLD_ENST00000437604.2_Silent_p.A173A|DLD_ENST00000440410.1_Silent_p.A198A	p.A221A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			8	944	+			221					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Silent	SNP	ENST00000205402.5	37	c.663A>C	CCDS5749.1																																																																																				0.348	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		11	161	0	0	0	1	0	11	161				
PMFBP1	83449	broad.mit.edu	37	16	72163043	72163043	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:72163043C>G	ENST00000237353.10	-	13	2133	c.1872G>C	c.(1870-1872)aaG>aaC	p.K624N	PMFBP1_ENST00000537465.1_Missense_Mutation_p.K629N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	629						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTTGCTCTTCTTCAACTGCT	0.468																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1885-1887)aaG>aaC		polyamine modulated factor 1 binding protein 1							287.0	291.0	290.0					16																	72163043		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72163043C>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1872G>C	16.37:g.72163043C>G	ENSP00000237353:p.Lys624Asn					PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K624N	p.K629N			Q8TBY8	PMFBP_HUMAN			13	2045	-		Ovarian(137;0.179)	629					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1887G>C	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246930	0.10130	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13538	2.58;2.59;2.58	4.31	2.09	0.27110	.	0.129090	0.35646	N	0.003070	T	0.09291	0.0229	L	0.29908	0.895	0.23449	N	0.997656	B;P;B	0.39250	0.447;0.665;0.447	B;B;B	0.41088	0.147;0.347;0.147	T	0.19844	-1.0293	10	0.26408	T	0.33	-18.0873	5.1417	0.14963	0.0:0.2541:0.0:0.7459	.	629;624;629	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	N	629;624;479	ENSP00000443817:K629N;ENSP00000237353:K624N;ENSP00000347854:K479N	ENSP00000237353:K624N	K	-	3	2	PMFBP1	70720544	0.996000	0.38824	0.994000	0.49952	0.049000	0.14656	0.330000	0.19715	0.458000	0.26988	-0.302000	0.09304	AAG		0.468	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		320	951	0	0	0	1	0	320	951				
IGLV1-51	28820	broad.mit.edu	37	22	22677064	22677064	+	RNA	SNP	C	C	T	rs369287589		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:22677064C>T	ENST00000390290.2	+	0	128				BMS1P20_ENST00000426066.1_RNA					immunoglobulin lambda variable 1-51																		TCAGTGTCTGCGGCCCCAGGA	0.572																																						ENST00000390290.2																			0															C		0,3882		0,0,1941	58.0	63.0	61.0			0.1	0.0	22		61	1,8271		0,1,4135	no	intergenic				0,1,6076	TT,TC,CC		0.0121,0.0,0.0082			22677064	1,12153	1941	4136	6077			0							g.chr22:22677064C>T	Z73661		22q11.2	2012-02-08			ENSG00000211644	ENSG00000211644		"""Immunoglobulins / IGL locus"""	5882	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151035		22.37:g.22677064C>T						LL22NC03-80A10.6_ENST00000426066.1_RNA								0	128	+									RNA	SNP	ENST00000390290.2	37																																																																																						0.572	IGLV1-51-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321094.1	NG_000002		5	428	0	0	0	1	0	5	428				
OSR1	130497	broad.mit.edu	37	2	19552943	19552943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:19552943G>T	ENST00000272223.2	-	2	968	c.624C>A	c.(622-624)tgC>tgA	p.C208*	OSR1_ENST00000536433.1_Nonsense_Mutation_p.C208*	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	208					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGCTTTGTGGCAGATGTCAC	0.597																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(622-624)tgC>tgA		odd-skipped related transciption factor 1							95.0	93.0	94.0					2																	19552943		2203	4300	6503	SO:0001587	stop_gained	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19552943G>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.624C>A	2.37:g.19552943G>T	ENSP00000272223:p.Cys208*					OSR1_ENST00000272223.2_Nonsense_Mutation_p.C208*	p.C208*			Q8TAX0	OSR1_HUMAN			1	3734	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	208					B3KV97|D6W521	Nonsense_Mutation	SNP	ENST00000272223.2	37	c.624C>A	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	G	39	7.611580	0.98390	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	.	.	.	6.04	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.081	8.9124	0.35561	0.2346:0.0:0.7654:0.0	.	.	.	.	X	208	.	.	C	-	3	2	OSR1	19416424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.198000	0.32223	0.838000	0.34948	0.650000	0.86243	TGC		0.597	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		6	334	1	0	0.217242	1	0.218505	6	334				
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	lincRNA	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:1593386A>C	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTGGCCATTCACGTGCCTCAG	0.597																																						ENST00000436493.2																			0																																																			0							g.chr5:1593386A>C																													5.37:g.1593386A>C														0	239	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.597	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			5	224	0	0	0	1	0	5	224				
ATP10A	57194	broad.mit.edu	37	15	25953381	25953381	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:25953381G>A	ENST00000356865.6	-	11	2522	c.2411C>T	c.(2410-2412)gCg>gTg	p.A804V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	804					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTTCCGCCGCATACACGTT	0.567																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2410-2412)gCg>gTg		ATPase, class V, type 10A							127.0	109.0	115.0					15																	25953381		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953381G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2411C>T	15.37:g.25953381G>A	ENSP00000349325:p.Ala804Val						p.A804V	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2522	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	804					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2411C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517745	0.85495	.	.	ENSG00000206190	ENST00000356865	D	0.86562	-2.14	4.84	4.84	0.62591	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98372	1.0554	10	0.87932	D	0	-25.4666	17.9717	0.89115	0.0:0.0:1.0:0.0	.	804	O60312	AT10A_HUMAN	V	804	ENSP00000349325:A804V	ENSP00000349325:A804V	A	-	2	0	ATP10A	23504474	1.000000	0.71417	0.143000	0.22291	0.460000	0.32559	9.539000	0.98076	2.231000	0.72958	0.655000	0.94253	GCG		0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		5	426	0	0	0	1	0	5	426				
TMEM145	284339	broad.mit.edu	37	19	42819577	42819577	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:42819577G>A	ENST00000301204.3	+	8	672	c.631G>A	c.(631-633)Gca>Aca	p.A211T	TMEM145_ENST00000598766.1_Missense_Mutation_p.A235T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	211					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.A211T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTTCATGGCCGCAGCAggagt	0.532																																						ENST00000598766.1																			1	Substitution - Missense(1)	p.A211T(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(703-705)Gca>Aca		transmembrane protein 145							110.0	104.0	106.0					19																	42819577		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819577G>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.631G>A	19.37:g.42819577G>A	ENSP00000301204:p.Ala211Thr					TMEM145_ENST00000301204.3_Missense_Mutation_p.A211T	p.A235T			Q8NBT3	TM145_HUMAN			8	703	+		Prostate(69;0.00682)	211						Missense_Mutation	SNP	ENST00000301204.3	37	c.703G>A	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402438	0.83230	.	.	ENSG00000167619	ENST00000301204	T	0.42900	0.96	4.1	4.1	0.47936	Rhodopsin-like GPCR transmembrane domain (1);	0.069434	0.56097	D	0.000036	T	0.45597	0.1350	M	0.61703	1.905	0.58432	D	0.999998	D	0.55385	0.971	P	0.47744	0.556	T	0.43686	-0.9376	10	0.37606	T	0.19	-1.784	12.1868	0.54243	0.0:0.0:1.0:0.0	.	211	Q8NBT3	TM145_HUMAN	T	211	ENSP00000301204:A211T	ENSP00000301204:A211T	A	+	1	0	TMEM145	47511417	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.076000	0.76806	2.011000	0.59026	0.455000	0.32223	GCA		0.532	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		5	242	0	0	0	1	0	5	242				
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gagaaafs	p.K25fs	RERE_ENST00000400907.2_Frame_Shift_Del_p.K25fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K25fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	25					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(70-75)gaaafs		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716284_8716285delTC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.72_73delGA	1.37:g.8716294_8716295delTC	ENSP00000338629:p.Lys25fs					RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs	p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	706_707	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	24					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.72_73delGA	CCDS95.1																																																																																				0.505	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			12	650						12	650	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		12	287						12	287	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAAAAAAAAAGTTGTTTTAAGAC	0.409																																						ENST00000505841.1																			0																																																			0							g.chr1:47325313_47325315delGTT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325316_47325318delGTT								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.409	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		12	354						12	354	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			7	47						7	47	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	565						7	565	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	8	275						8	275	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		9	368						9	368	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134.0	134.0	134.0					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	381						7	381	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.T949fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401																																						ENST00000404125.1																			1	Deletion - Frameshift(1)	p.T1691fs*>39(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5413-5415)cttfs		proteasome (prosome, macropain) activator subunit 4																																				SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093344_54093345insT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5414dupA	2.37:g.54093352_54093352dupT	ENSP00000384211:p.Thr1805fs					PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR	p.L1805fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5468_5469	-			1805					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Ins	INS	ENST00000404125.1	37	c.5413_5414insA	CCDS33197.2																																																																																				0.401	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	646						8	646	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55.0	55.0	55.0					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		10	332						10	332	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	755					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2263-2268)cat>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575023_61575025delTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267delCCA	2.37:g.61575032_61575034delTGG	ENSP00000381577:p.His760del						p.HH759del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2341_2343	-			759					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.2265_2267delCCA	CCDS42686.1																																																																																				0.389	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	320						7	320	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		8	754						8	754	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-	rs377079619		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttccgc>ttc	p.R1093del	DYSF_ENST00000409762.1_In_Frame_Del_p.R1110del|DYSF_ENST00000413539.2_In_Frame_Del_p.R1124del|DYSF_ENST00000409651.1_In_Frame_Del_p.R1125del|DYSF_ENST00000409366.1_In_Frame_Del_p.R1094del|DYSF_ENST00000410020.3_In_Frame_Del_p.R1111del|DYSF_ENST00000394120.2_In_Frame_Del_p.R1094del|DYSF_ENST00000409582.3_In_Frame_Del_p.R1110del|DYSF_ENST00000429174.2_In_Frame_Del_p.R1093del|DYSF_ENST00000409744.1_In_Frame_Del_p.R1080del|DYSF_ENST00000410041.1_In_Frame_Del_p.R1111del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1093	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3265-3270)ttc>tt		dysferlin																																				SO:0001651	inframe_deletion	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801420_71801422delCCG	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3267_3269delCCG	2.37:g.71801429_71801431delCCG	ENSP00000258104:p.Arg1093del					DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del	p.FR1089del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			30	3544_3546	+			1089			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	In_Frame_Del	DEL	ENST00000258104.3	37	c.3267_3269delCCG	CCDS1918.1																																																																																				0.655	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	905						7	905	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.E329fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515																																						ENST00000272542.3																			1	Deletion - Frameshift(1)	p.R332fs*14(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(982-987)ccagfs		solute carrier family 20 (phosphate transporter), member 1																																				SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416607_113416608delAG		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.984_985delAG	2.37:g.113416617_113416618delAG	ENSP00000272542:p.Glu329fs					SLC20A1_ENST00000480984.1_3'UTR	p.PE328fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1523_1524	+			328					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.984_985delAG	CCDS2099.1																																																																																				0.515	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		11	332						11	332	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116.0	104.0	108.0					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			9	297						9	297	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7621013	7621013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:7621013delT	ENST00000357716.4	+	8	2694	c.2420delT	c.(2419-2421)attfs	p.I807fs	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs|GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000486284.1_Frame_Shift_Del_p.I807fs	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	807					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCATTCCAATTTTTTTTGGC	0.383																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2419-2421)atfs		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						40.0	38.0	38.0					3																	7621013		2203	4300	6503	SO:0001589	frameshift_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7621013delT	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2420delT	3.37:g.7621013delT	ENSP00000350348:p.Ile807fs					GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000357716.4_Frame_Shift_Del_p.I807fs	p.I807fs	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2694	+			807					Q8NFS2|Q8NFS3|Q8NFS4	Frame_Shift_Del	DEL	ENST00000357716.4	37	c.2420delT	CCDS43042.1																																																																																				0.383	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		8	208						8	208	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77657038	77657038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:77657038delC	ENST00000461745.1	+	21	4126	c.3226delC	c.(3226-3228)cccfs	p.P1078fs	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.P1078fs|ROBO2_ENST00000487694.3_Frame_Shift_Del_p.P1094fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1078					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V1079fs*22(1)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCTCTACCTCCCCCCCCAGT	0.433																																						ENST00000461745.1																			2	Insertion - Frameshift(2)	p.V1079fs*22(1)|p.V1095fs*22(1)	biliary_tract(2)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3226-3228)ccfs		roundabout, axon guidance receptor, homolog 2 (Drosophila)							68.0	74.0	72.0					3																	77657038		1836	4082	5918	SO:0001589	frameshift_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77657038delC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3226delC	3.37:g.77657038delC	ENSP00000417164:p.Pro1078fs					ROBO2_ENST00000487694.3_Frame_Shift_Del_p.P1094fs|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.P1078fs|ROBO2_ENST00000469233.1_3'UTR	p.P1078fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	21	4126	+			1078					O43608|Q19AB4|Q19AB5	Frame_Shift_Del	DEL	ENST00000461745.1	37	c.3226delC	CCDS43109.1																																																																																				0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		7	346						7	346	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869089	122869089	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:122869089delC	ENST00000316218.7	+	14	1246	c.1151delC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGCCCTGAGGCCCCCCCGCCC	0.602																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)gcfs		protein disulfide isomerase family A, member 5							47.0	53.0	51.0					3																	122869089		2203	4300	6503	SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869089delC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1151delC	3.37:g.122869089delC	ENSP00000323313:p.Ala384fs					PDIA5_ENST00000467157.1_3'UTR	p.A384fs	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Del	DEL	ENST00000316218.7	37	c.1151delC	CCDS3020.1																																																																																				0.602	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		7	531						7	531	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		7	280						7	280	---	---	---	---
ANTXR2	118429	broad.mit.edu	37	4	80905990	80905990	+	Frame_Shift_Del	DEL	C	C	-	rs386676514|rs12647691|rs556120147	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:80905990delC	ENST00000307333.7	-	13	1071	c.1069delG	c.(1069-1071)gccfs	p.A357fs	ANTXR2_ENST00000403729.2_Frame_Shift_Del_p.A357fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.A280fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.A254fs	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	357	Poly-Pro.		A -> P (in dbSNP:rs12647691). {ECO:0000269|PubMed:11683410, ECO:0000269|PubMed:12700348, ECO:0000269|PubMed:14508707, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGTGCAGGGGCGGGTGGTGGT	0.348									Juvenile Hyaline Fibromatosis					5	0.000998403	0.0015	0.0014	5008	,	,		13171	0.0		0.0	False		,,,				2504	0.002					ENST00000403729.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(1069-1071)ccfs		anthrax toxin receptor 2							67.0	70.0	69.0					4																	80905990		1794	4063	5857	SO:0001589	frameshift_variant	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80905990delC	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1069delG	4.37:g.80905990delC	ENSP00000306185:p.Ala357fs					ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.A357fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.A254fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.A280fs	p.A357fs	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN			13	1594	-			357		A -> P (in dbSNP:rs12647691).	Poly-Pro.		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Frame_Shift_Del	DEL	ENST00000307333.7	37	c.1069delG	CCDS47086.1																																																																																				0.348	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		8	84						8	84	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	401						8	401	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1141-1143)aafs	Mismatch excision repair (MMR)	mutS homolog 3							142.0	146.0	144.0					5																	79970915		2203	4300	6503	SO:0001589	frameshift_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79970915delA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1141delA	5.37:g.79970915delA	ENSP00000265081:p.Lys383fs						p.K383fs	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	7	1221	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	383					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	ENST00000265081.6	37	c.1141delA	CCDS34195.1																																																																																				0.348	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		7	594						7	594	---	---	---	---
BTN3A1	11119	broad.mit.edu	37	6	26413416	26413416	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:26413416delA	ENST00000289361.6	+	10	1406	c.1038delA	c.(1036-1038)ccafs	p.P346fs	BTN3A1_ENST00000414912.2_Frame_Shift_Del_p.P294fs|BTN3A1_ENST00000476549.2_3'UTR	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTGGATCCAAAAACAGCAA	0.517																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1036-1038)ccfs		butyrophilin, subfamily 3, member A1							114.0	119.0	117.0					6																	26413416		2203	4300	6503	SO:0001589	frameshift_variant	0				lipid metabolic process	integral to membrane		g.chr6:26413416delA	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1038delA	6.37:g.26413416delA	ENSP00000289361:p.Pro346fs					BTN3A1_ENST00000476549.2_3'UTR|BTN3A1_ENST00000414912.2_Frame_Shift_Del_p.P294fs	p.P346fs	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			10	1406	+			346			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Frame_Shift_Del	DEL	ENST00000289361.6	37	c.1038delA	CCDS4608.1																																																																																				0.517	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			8	476						8	476	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		9	271						9	271	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																						ENST00000259951.7																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1177-1182)ttttttfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	p.FF393fs	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN			7	1235_1236	+			0					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		10	844						10	844	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		10	212						10	212	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			10	719						10	719	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:102503431_102503432insA	ENST00000421544.1	+	15	3028_3029	c.2538_2539insA	c.(2539-2541)aaafs	p.K847fs	GRIK2_ENST00000369138.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K771fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K798fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K847fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	847					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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 cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATACAAATCCAAAAAAAACGC	0.351																																						ENST00000369138.1																			2	Deletion - Frameshift(2)	p.N849fs*12(1)|p.N849fs*14(1)	lung(2)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2536-2541)tcaaaafs		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503431_102503432insA		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2546dupA	6.37:g.102503439_102503439dupA	ENSP00000397026:p.Lys847fs					GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs	p.SK846fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	3028_3029	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	846					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Ins	INS	ENST00000421544.1	37	c.2538_2539insA	CCDS5048.1																																																																																				0.351	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			10	434						10	434	---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108214755	108214755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:108214755delT	ENST00000369002.4	-	16	1784	c.1605delA	c.(1603-1605)aaafs	p.K535fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	535	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.K535fs*28(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGTGTAGGTTTTTTTTTTA	0.343																																						ENST00000369002.4																			1	Deletion - Frameshift(1)	p.K535fs*28(1)	ovary(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1603-1605)aafs		SEC63 homolog (S. cerevisiae)							115.0	119.0	117.0					6																	108214755		2202	4300	6502	SO:0001589	frameshift_variant	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214755delT	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1605delA	6.37:g.108214755delT	ENSP00000357998:p.Lys535fs						p.K535fs	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1784	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	535			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Frame_Shift_Del	DEL	ENST00000369002.4	37	c.1605delA	CCDS5061.1																																																																																				0.343	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		16	525						16	525	---	---	---	---
TRAF3IP2	10758	broad.mit.edu	37	6	111880693	111880693	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:111880693delT	ENST00000340026.6	-	10	2234	c.1640delA	c.(1639-1641)aacfs	p.N547fs	TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Frame_Shift_Del_p.N126fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Del_p.N82fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Frame_Shift_Del_p.N538fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Del_p.N537fs|TRAF3IP2-AS1_ENST00000442928.2_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	547	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGCAGGATGTTTTTTTTATT	0.547																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1612-1614)acfs		TRAF3 interacting protein 2							120.0	118.0	119.0					6																	111880693		2203	4300	6503	SO:0001589	frameshift_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111880693delT	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1640delA	6.37:g.111880693delT	ENSP00000345984:p.Asn547fs					TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Del_p.N82fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Del_p.N537fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Del_p.N126fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000340026.6_Frame_Shift_Del_p.N547fs|TRAF3IP2-AS1_ENST00000442928.2_RNA	p.N538fs	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	9	2091	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	547			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Del	DEL	ENST00000340026.6	37	c.1613delA																																																																																					0.547	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			11	568						11	568	---	---	---	---
WISP3	8838	broad.mit.edu	37	6	112389434	112389434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:112389434delA	ENST00000368666.2	+	4	902	c.616delA	c.(616-618)aaafs	p.K208fs	WISP3_ENST00000361714.1_Frame_Shift_Del_p.K226fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	208	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ACTTATTTGGAAAAAAAAATG	0.333																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(670-672)aafs		WNT1 inducible signaling pathway protein 3			,	45,4219		4,37,2091	45.0	45.0	45.0		,	5.8	1.0	6		46	70,8180		10,50,4065	no	frameshift,frameshift	WISP3	NM_198239.1,NM_003880.3	,	14,87,6156	A1A1,A1R,RR		0.8485,1.0553,0.919	,	,	112389434	115,12399	2203	4298	6501	SO:0001589	frameshift_variant	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112389434delA	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.616delA	6.37:g.112389434delA	ENSP00000357655:p.Lys208fs					WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368666.2_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs	p.K226fs			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	4	715	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	208			TSP type-1.		Q3KR29|Q5H8W4|Q6UXH6	Frame_Shift_Del	DEL	ENST00000368666.2	37	c.670delA	CCDS5098.1																																																																																				0.333	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		10	216						10	216	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gafs		KIAA0408							236.0	227.0	230.0					6																	127767596		2203	4300	6503	SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767596delC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1868delG	CCDS34531.1																																																																																				0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	1268						7	1268	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599515	136599515	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:136599515delT	ENST00000531224.1	-	4	756	c.504delA	c.(502-504)aaafs	p.K168fs	BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K166fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	168					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCCTTCAGCTTTTTTGGTTT	0.423																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(502-504)aafs		BCL2-associated transcription factor 1							192.0	201.0	198.0					6																	136599515		2203	4300	6503	SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599515delT	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.504delA	6.37:g.136599515delT	ENSP00000435210:p.Lys168fs					BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K166fs	p.K168fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	756	-	Colorectal(23;0.24)		168					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	c.504delA	CCDS5177.1																																																																																				0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		7	1481						7	1481	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aaafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413																																						ENST00000332797.6																			2	Deletion - Frameshift(2)	p.N117fs*5(2)	large_intestine(2)	autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(343-345)aafs		coiled-coil domain containing 28A							112.0	108.0	109.0					6																	139097330		2203	4300	6503	SO:0001589	frameshift_variant	25901							g.chr6:139097330delA	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.343delA	6.37:g.139097330delA	ENSP00000332716:p.Lys116fs						p.K116fs	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	498	+			116					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Frame_Shift_Del	DEL	ENST00000332797.6	37	c.343delA	CCDS5192.1																																																																																				0.413	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		9	402						9	402	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(16-21)ttttttfs		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350671_146350672insT	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs					GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs	p.FF6fs			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	488_489	+		Ovarian(120;0.0387)	6					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.18_19insT	CCDS5209.1																																																																																				0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		11	716						11	716	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48092369	48092371	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:48092369_48092371delGCA	ENST00000348904.3	+	7	890_892	c.678_680delGCA	c.(676-681)ttgcag>ttg	p.Q230del	C7orf57_ENST00000435376.1_In_Frame_Del_p.Q92del|C7orf57_ENST00000539619.1_In_Frame_Del_p.Q230del|C7orf57_ENST00000430738.1_In_Frame_Del_p.Q275del|C7orf57_ENST00000420324.1_In_Frame_Del_p.Q259del	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	230										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						ATGAGTGGTTGCAGCAGCAGCAG	0.473																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(676-681)ttg>tt		chromosome 7 open reading frame 57																																				SO:0001651	inframe_deletion	136288							g.chr7:48092369_48092371delGCA	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.678_680delGCA	7.37:g.48092378_48092380delGCA	ENSP00000335500:p.Gln230del					C7orf57_ENST00000420324.1_In_Frame_Del_p.LQ255del|C7orf57_ENST00000430738.1_In_Frame_Del_p.LQ271del|C7orf57_ENST00000435376.1_In_Frame_Del_p.LQ88del|C7orf57_ENST00000539619.1_In_Frame_Del_p.LQ226del	p.LQ226del	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			7	890_892	+			226					C9JBJ8	In_Frame_Del	DEL	ENST00000348904.3	37	c.678_680delGCA	CCDS47583.1																																																																																				0.473	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		7	434						7	434	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T	rs556745507	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120									GTF2I repeat domain containing 2 pseudogene 1																		CGTTCTACCAgtttttttttgt	0.441													|||unknown(NO_COVERAGE)	44	0.00878594	0.0325	0.0014	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			0							g.chr7:72683455_72683456insT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72683464_72683464dupT								NR_002164.1						0	120	-									RNA	INS	ENST00000425256.1	37																																																																																						0.441	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	427						8	427	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108.0	103.0	105.0					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		9	491						9	491	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760738	92760738	+	Frame_Shift_Del	DEL	T	T	-	rs10282508	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:92760738delT	ENST00000318238.4	-	5	5763	c.4547delA	c.(4546-4548)aatfs	p.N1516fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.N1516fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.N1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1516			N -> T (in dbSNP:rs10282508).		common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGACTTCATTTTTTTTCCA	0.393																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4546-4548)atfs		sterile alpha motif domain containing 9-like							128.0	127.0	127.0					7																	92760738		2203	4300	6503	SO:0001589	frameshift_variant	219285							g.chr7:92760738delT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4547delA	7.37:g.92760738delT	ENSP00000326247:p.Asn1516fs					SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.N1516fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.N1516fs	p.N1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5763	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1516		N -> T (in dbSNP:rs10282508).			A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	ENST00000318238.4	37	c.4547delA	CCDS34681.1																																																																																				0.393	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		7	628						7	628	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000397814.3_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	495						7	495	---	---	---	---
TNFRSF10A	8797	broad.mit.edu	37	8	23054679	23054701	+	Frame_Shift_Del	DEL	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	-	rs372908951		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENST00000221132.3	-	9	1095_1117	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	c.(1030-1053)gaagggtctcagaggaggaggctgfs	p.EGSQRRRL344fs		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	344					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGGAACCAGCAGCCTCCTCCTCTGAGACCCTTCAGCTTCTGC	0.556																																						ENST00000221132.3																			0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(1030-1053)gfs		tumor necrosis factor receptor superfamily, member 10a																																				SO:0001589	frameshift_variant	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	8.37:g.23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENSP00000221132:p.Glu344fs						p.EGSQRRRL344fs	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	9	1095_1117	-		Prostate(55;0.0421)|Breast(100;0.14)	344					A8K5I4|Q53Y72|Q96E62	Frame_Shift_Del	DEL	ENST00000221132.3	37	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	CCDS6039.1																																																																																				0.556	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		20	376						20	376	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			8	272						8	272	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:52359596delT	ENST00000356297.4	-	12	1593	c.1493delA	c.(1492-1494)aagfs	p.K498fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1492-1494)agfs		peroxidasin homolog (Drosophila)-like							169.0	167.0	167.0					8																	52359596		2017	4175	6192	SO:0001589	frameshift_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359596delT		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1493delA	8.37:g.52359596delT	ENSP00000348645:p.Lys498fs					PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	p.K498fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			12	1593	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	498			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Frame_Shift_Del	DEL	ENST00000356297.4	37	c.1493delA	CCDS47855.1																																																																																				0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	948						8	948	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62588724	62588726	+	Intron	DEL	TTC	TTC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:62588724_62588726delTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000379449.6_In_Frame_Del_p.E174del	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGTTTCGCTTTCTTCTTCTTCT	0.369																																						ENST00000379449.6																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(520-522)del		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)																																			SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62588724_62588726delTTC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.322+4800GAA>-	8.37:g.62588733_62588735delTTC						ASPH_ENST00000518068.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del	p.E174del	NM_001164756.1	NP_001158228.1	Q12797	ASPH_HUMAN			5	694_696	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	0			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Del	DEL	ENST00000379454.4	37	c.520_522delGAA	CCDS34898.1																																																																																				0.369	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		9	289						9	289	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T	rs570441854		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000521676.1_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31			,	6,4258		0,6,2126					,	5.7	1.0			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594							g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site		NM_145647.3	NP_663622.2					14	1974_1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37		CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	12	364						12	364	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1588-1590)ttfs		ATPase family, AAA domain containing 2							79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368685delA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs					ATAD2_ENST00000521903.1_5'UTR	p.F530fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1697	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		530					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.1590delT	CCDS6343.1																																																																																				0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	324						7	324	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)del		KN motif and ankyrin repeat domains 1			,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732475_732477delGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del					KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR	p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3755_3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1039					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	ENST00000382303.1	37	c.3103_3105delGAG	CCDS34976.1																																																																																				0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		7	403						7	403	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974727	21974744	+	In_Frame_Del	DEL	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	-	rs540871544	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:21974727_21974744delCCTCCAGCAGCGCCCGCA	ENST00000304494.5	-	1	353_370	c.83_100delTGCGGGCGCTGCTGGAGG	c.(82-102)gtgcgggcgctgctggaggcg>gcg	p.VRALLE28del	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28V(2)|p.A30A(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.V28fs*15(1)|p.L31P(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCGCCCCCGCCTCCAGCAGCGCCCGCACCTCCTCTAC	0.739		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1368	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(10)|Substitution - Missense(9)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Substitution - Nonsense(2)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28V(2)|p.A30A(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.V28fs*15(1)|p.L31P(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.R22fs*14(1)|p.V28G(1)	haematopoietic_and_lymphoid_tissue(278)|skin(173)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(58)|oesophagus(57)|upper_aerodigestive_tract(53)|pleura(52)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|liver(8)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD972118|CI003210|CM024658|CM950225	CDKN2A	D|I|M		c.(82-102)gcg>g		cyclin-dependent kinase inhibitor 2A																																				SO:0001651	inframe_deletion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974727_21974744delCCTCCAGCAGCGCCCGCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.83_100delTGCGGGCGCTGCTGGAGG	9.37:g.21974727_21974744delCCTCCAGCAGCGCCCGCA	ENSP00000307101:p.Val28_Glu33del	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_In_Frame_Del_p.VRALLEA28del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.VRALLEA28del|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.VRALLEA28del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron	p.VRALLEA28del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	353_370	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	28					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Del	DEL	ENST00000304494.5	37	c.83_100delTGCGGGCGCTGCTGGAGG	CCDS6510.1																																																																																				0.739	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		61	312						61	312	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112899370	112899372	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:112899370_112899372delCAG	ENST00000259318.7	+	2	1060_1062	c.853_855delCAG	c.(853-855)cagdel	p.Q290del	AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del|PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del|PALM2-AKAP2_ENST00000374530.3_In_Frame_Del_p.Q521del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	290										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						gaagcagttacagcagcagcagc	0.552																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1546-1548)del																																						SO:0001651	inframe_deletion	0						enzyme binding	g.chr9:112899370_112899372delCAG	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.853_855delCAG	9.37:g.112899379_112899381delCAG	ENSP00000259318:p.Gln290del					PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del|AKAP2_ENST00000259318.7_In_Frame_Del_p.Q290del|AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del|AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del	p.Q521del	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1726_1728	+			290					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Del	DEL	ENST00000259318.7	37	c.1546_1548delCAG	CCDS48003.1																																																																																				0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		7	104						7	104	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		9	217						9	217	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	243						12	243	---	---	---	---
C10orf55	414236	broad.mit.edu	37	10	75673298	75673298	+	Intron	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|PLAU_ENST00000372764.3_Splice_Site_p.G154fs|PLAU_ENST00000372762.4_Splice_Site_p.G118fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156.0	188.0	177.0					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		8	1488						8	1488	---	---	---	---
PIPSL	266971	broad.mit.edu	37	10	95719691	95719692	+	RNA	DEL	AA	AA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:95719691_95719692delAA	ENST00000480546.1	-	0	1605_1606					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TAGCATTTGCAAAGTCTCTTCA	0.495																																						ENST00000480546.1																			0																																																			0							g.chr10:95719691_95719692delAA	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719691_95719692delAA								NR_002319.2						0	1605_1606	-								Q6NUK8	RNA	DEL	ENST00000480546.1	37																																																																																						0.495	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		37	194						37	194	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97918855	97918856	+	RNA	INS	-	-	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:97918855_97918856insA	ENST00000534948.1	+	0	3633_3634							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAATTCAGAACAAAAAAAAACT	0.347																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A																																						9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97918855_97918856insA	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918864_97918864dupA										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	3633_3634	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	INS	ENST00000534948.1	37																																																																																						0.347	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		7	222						7	222	---	---	---	---
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)cctccc>ccc	p.171_172PP>P	DPCD_ENST00000470165.1_Intron|DPCD_ENST00000370151.4_5'Flank|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000456836.2_Intron|POLL_ENST00000299206.4_In_Frame_Del_p.171_172PP>P|POLL_ENST00000370172.1_In_Frame_Del_p.83_84PP>P|POLL_ENST00000370158.3_Intron|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370169.1_In_Frame_Del_p.171_172PP>P|POLL_ENST00000436284.2_Intron|POLL_ENST00000339310.3_Intron|DPCD_ENST00000370147.1_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(511-516)ccc>cc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda			,,	22,4242		11,0,2121					,,	-0.9	0.0			149	45,8209		19,7,4101	no	coding,coding,coding	POLL	NM_013274.3,NM_001174085.1,NM_001174084.1	,,	30,7,6222	A1A1,A1R,RR		0.5452,0.5159,0.5352	,,	,,		67,12451				SO:0001651	inframe_deletion	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345131_103345133delGGA	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.513_515delTCC	10.37:g.103345140_103345142delGGA	ENSP00000359181:p.Pro172del					DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron	p.PP171del	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1007_1009	-		Colorectal(252;0.234)	171					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	In_Frame_Del	DEL	ENST00000370162.3	37	c.513_515delTCC	CCDS7513.1																																																																																				0.591	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		9	343						9	343	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		9	670						9	670	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	764						7	764	---	---	---	---
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:14529252_14529254delCAT	ENST00000396394.2	-	9	1079_1081	c.683_685delATG	c.(682-687)gatgtg>gtg	p.D228del	PSMA1_ENST00000418988.2_In_Frame_Del_p.D234del|PSMA1_ENST00000530457.1_In_Frame_Del_p.D203del|PSMA1_ENST00000396393.1_In_Frame_Del_p.D228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000524606.1_5'UTR	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.36																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(607-612)gtg>g		proteasome (prosome, macropain) subunit, alpha type, 1																																				SO:0001651	inframe_deletion	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14529252_14529254delCAT	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.683_685delATG	11.37:g.14529261_14529263delCAT	ENSP00000379676:p.Asp228del					PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del	p.DV203del			P25786	PSA1_HUMAN			9	1138_1140	-			228					A8K400|Q53YE8|Q9BRV9	In_Frame_Del	DEL	ENST00000396394.2	37	c.608_610delATG	CCDS7816.1																																																																																				0.360	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		11	631						11	631	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19955389	19955389	+	Frame_Shift_Del	DEL	A	A	-	rs141566825	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:19955389delA	ENST00000396087.3	+	8	1767	c.1668delA	c.(1666-1668)ccafs	p.P556fs	NAV2_ENST00000360655.4_Frame_Shift_Del_p.P469fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.P487fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.P485fs|NAV2_ENST00000349880.4_Frame_Shift_Del_p.P533fs|NAV2_ENST00000396085.1_Frame_Shift_Del_p.P533fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	556					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCGAGATGCCAAAAAAGTCCT	0.557																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1597-1599)ccfs		neuron navigator 2							87.0	98.0	94.0					11																	19955389		2198	4292	6490	SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955389delA	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1668delA	11.37:g.19955389delA	ENSP00000379396:p.Pro556fs					NAV2_ENST00000349880.4_Frame_Shift_Del_p.P533fs|NAV2_ENST00000396087.3_Frame_Shift_Del_p.P556fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.P485fs|NAV2_ENST00000360655.4_Frame_Shift_Del_p.P469fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.P487fs	p.P533fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	1960	+			556					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Del	DEL	ENST00000396087.3	37	c.1599delA	CCDS58126.1																																																																																				0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	471						9	471	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	17	586						17	586	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89407177	89407177	+	RNA	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTTTTTTCCCCAATCTGG	0.303																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89407177delC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89407177delC										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.303	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		8	123						8	123	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		13	831						13	831	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51121500	51121500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:51121500delA	ENST00000301180.5	+	29	3449	c.3415delA	c.(3415-3417)aaafs	p.K1139fs		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1139						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTACCCAGGAAAAGGTTACC	0.428																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3415-3417)aafs		DIP2 disco-interacting protein 2 homolog B (Drosophila)							209.0	208.0	208.0					12																	51121500		2203	4300	6503	SO:0001589	frameshift_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51121500delA	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3415delA	12.37:g.51121500delA	ENSP00000301180:p.Lys1139fs						p.K1139fs	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			29	3449	+			1139					Q6B011|Q8N1L5|Q8NB38	Frame_Shift_Del	DEL	ENST00000301180.5	37	c.3415delA	CCDS31799.1																																																																																				0.428	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		7	1335						7	1335	---	---	---	---
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:111099110_111099112delCTC	ENST00000356742.5	-	3	916_918	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(163-165)del		hydrogen voltage-gated channel 1																																				SO:0001651	inframe_deletion	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099110_111099112delCTC	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.163_165delGAG	12.37:g.111099119_111099121delCTC	ENSP00000349181:p.Glu55del					HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del	p.E55del			Q96D96	HVCN1_HUMAN			3	916_918	-			55			Poly-Glu.		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	In_Frame_Del	DEL	ENST00000356742.5	37	c.163_165delGAG	CCDS31900.1																																																																																				0.606	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		7	267						7	267	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23912864	23912864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:23912864delT	ENST00000382292.3	-	9	5424	c.5151delA	c.(5149-5151)aaafs	p.K1717fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.K1717fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1717					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAGCAGGATTTTTTTTTAA	0.358																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5149-5151)aafs		spastic ataxia of Charlevoix-Saguenay (sacsin)							40.0	42.0	42.0					13																	23912864		2202	4299	6501	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912864delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5151delA	13.37:g.23912864delT	ENSP00000371729:p.Lys1717fs					SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs	p.K1717fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5739	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1717					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.5151delA	CCDS9300.2																																																																																				0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	262						7	262	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25262564	25262564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:25262564delG	ENST00000381946.3	+	4	503	c.336delG	c.(334-336)gtgfs	p.V112fs	ATP12A_ENST00000218548.6_Frame_Shift_Del_p.V112fs			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AGCAGATGGTGGGGGGGTTCT	0.587																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - coding silent(1)	p.V112V(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(334-336)gtfs		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						229.0	237.0	234.0					13																	25262564		2203	4300	6503	SO:0001589	frameshift_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262564delG	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.336delG	13.37:g.25262564delG	ENSP00000371372:p.Val112fs					ATP12A_ENST00000381946.3_Frame_Shift_Del_p.V112fs	p.V112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	669	+		Lung SC(185;0.0225)|Breast(139;0.077)	112					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Frame_Shift_Del	DEL	ENST00000381946.3	37	c.336delG	CCDS31948.1																																																																																				0.587	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		7	1612						7	1612	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-	rs537105482|rs150143049|rs558565724	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)gctdel	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1468-1470)del		poly(A) binding protein, cytoplasmic 3																																				SO:0001651	inframe_deletion	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671804_25671806delGCT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1468_1470delGCT	13.37:g.25671813_25671815delGCT	ENSP00000281589:p.Ala496del						p.A496del	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1505_1507	+		Lung SC(185;0.0225)|Breast(139;0.0602)	496					Q8NHV0|Q9H086	In_Frame_Del	DEL	ENST00000281589.3	37	c.1468_1470delGCT	CCDS9311.1																																																																																				0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		7	285						7	285	---	---	---	---
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:31715381_31715382insT	ENST00000320027.5	-	13	2075_2076	c.1731_1732insA	c.(1729-1734)aaagttfs	p.V578fs	HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.V537fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.V580fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.V397fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.V534fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	578					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1729-1734)aattgafs		heat shock 105kDa/110kDa protein 1																																				SO:0001589	frameshift_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31715381_31715382insT	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1732dupA	13.37:g.31715389_31715389dupT	ENSP00000318687:p.Val578fs					HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs	p.N*577fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	13	2075_2076	-		Lung SC(185;0.0257)	577					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Frame_Shift_Ins	INS	ENST00000320027.5	37	c.1731_1732insA	CCDS9340.1																																																																																				0.376	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			9	543						9	543	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs374912343|rs371270332|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTTTT	0.415																																						ENST00000390441.2																			0																																																			0							g.chr14:22409533_22409539delCTCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409539delCTCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.415	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		12	29						12	29	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488																																						ENST00000357460.5																			1	Deletion - Frameshift(1)	p.L376fs*14(1)	large_intestine(1)	endometrium(5)|lung(7)	12						c.(1126-1128)tafs		homeobox and leucine zipper encoding							112.0	119.0	116.0					14																	23745310		1948	4135	6083	SO:0001589	frameshift_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745310delA	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1127delT	14.37:g.23745310delA	ENSP00000350049:p.Leu376fs					HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs	p.L376fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1291	-	all_cancers(95;5.54e-06)		376					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	ENST00000357460.5	37	c.1127delT	CCDS45085.1																																																																																				0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		7	300						7	300	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36194270	36194270	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr14:36194270delT	ENST00000389698.3	-	14	2216	c.1826delA	c.(1825-1827)aatfs	p.N609fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	609					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGGTCATATTTTTTTTCCC	0.378																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1825-1827)atfs		Ral GTPase activating protein, alpha subunit 1 (catalytic)							56.0	58.0	58.0					14																	36194270		2203	4300	6503	SO:0001589	frameshift_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36194270delT	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1826delA	14.37:g.36194270delT	ENSP00000374348:p.Asn609fs					RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs	p.N609fs			Q6GYQ0	RGPA1_HUMAN			14	2216	-			609					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	ENST00000389698.3	37	c.1826delA	CCDS32065.1																																																																																				0.378	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		14	630						14	630	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	437259	437260	+	5'Flank	DEL	AT	AT	-	rs148097303		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:437259_437260delAT	ENST00000476735.1	-	0	0				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTAATTCTAAATATATATATAT	0.421																																						ENST00000412293.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:437259_437260delAT	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996		16.37:g.437269_437270delAT	Exception_encountered							NR_024453.2						0	521	+								D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	ENST00000476735.1	37																																																																																						0.421	TMEM8A-007	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000313680.1	NM_021259		8	113						8	113	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		9	251						9	251	---	---	---	---
AP1G1	164	broad.mit.edu	37	16	71803440	71803440	+	Intron	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:71803440delA	ENST00000299980.4	-	6	1084				AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000423132.2_Splice_Site|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000569748.1_Intron	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCTTGCTTTCAAAAAAAAATA	0.378																																						ENST00000423132.2																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.e7-1		adaptor-related protein complex 1, gamma 1 subunit																																				SO:0001627	intron_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71803440delA	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.642+85T>-	16.37:g.71803440delA						AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000299980.4_Intron				O43747	AP1G1_HUMAN			7	921	-		Ovarian(137;0.125)						O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	DEL	ENST00000299980.4	37		CCDS32480.1																																																																																				0.378	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			7	162						7	162	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)tttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2083-2085)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145.0	143.0	143.0					16																	77356311		2198	4300	6498	SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356311delA	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2085delT	16.37:g.77356311delA	ENSP00000282849:p.Phe695fs						p.F695fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503	-			695			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Del	DEL	ENST00000282849.5	37	c.2085delT	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			11	455						11	455	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|RNU7-43P_ENST00000516554.1_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.350	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	408						8	408	---	---	---	---
RP11-156P1.3	0	broad.mit.edu	37	17	45128638	45128638	+	RNA	DEL	G	G	-	rs374777142|rs552285972	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:45128638delG	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							Gtttttttttgttttgttttt	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128638delG																													17.37:g.45128638delG														0	418	-									RNA	DEL	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	343						7	343	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323																																						ENST00000262013.7																			1	Deletion - Frameshift(1)	p.R535fs*28(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1645-1647)ggfs		sperm associated antigen 9							158.0	136.0	144.0					17																	49077041		2203	4300	6503	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49077041delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1645delA	17.37:g.49077041delT	ENSP00000262013:p.Arg549fs					SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	p.R549fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		14	1853	-			549					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.1645delA	CCDS45740.1																																																																																				0.323	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		8	186						8	186	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-	rs376314569|rs368840037		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:66141017delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAA	0.323																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141017delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.323	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			7	321						7	321	---	---	---	---
C18orf8	29919	broad.mit.edu	37	18	21098885	21098887	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr18:21098885_21098887delCAT	ENST00000269221.3	+	8	795_797	c.685_687delCAT	c.(685-687)catdel	p.H230del	C18orf8_ENST00000590868.1_In_Frame_Del_p.H182del	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	230						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTTCTTGAGGCATCATTCTCGGA	0.424																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(685-687)del		chromosome 18 open reading frame 8																																				SO:0001651	inframe_deletion	29919							g.chr18:21098885_21098887delCAT	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.685_687delCAT	18.37:g.21098888_21098890delCAT	ENSP00000269221:p.His230del					C18orf8_ENST00000590868.1_In_Frame_Del_p.H182del	p.H230del	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			8	795_797	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		230					Q9BU17|Q9Y5M0	In_Frame_Del	DEL	ENST00000269221.3	37	c.685_687delCAT	CCDS32803.1																																																																																				0.424	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		89	226						89	226	---	---	---	---
SERPINB10	5273	broad.mit.edu	37	18	61584739	61584739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr18:61584739delA	ENST00000238508.3	+	3	277	c.218delA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTGAAAGTGAAAAAAAAAGG	0.284																																						ENST00000238508.3																			1	Deletion - Frameshift(1)	p.R76fs*7(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(217-219)gafs		serpin peptidase inhibitor, clade B (ovalbumin), member 10				39,129,4010		1,0,37,2,125,1924	26.0	26.0	26.0			5.3	1.0	18		27	67,232,7845		0,0,67,0,232,3773	no	codingComplex	SERPINB10	NM_005024.1		1,0,104,2,357,5697	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6714,4.0211,3.79			61584739	106,361,11855	2173	4255	6428	SO:0001589	frameshift_variant	5273							g.chr18:61584739delA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.218delA	18.37:g.61584739delA	ENSP00000238508:p.Glu73fs						p.E73fs	NM_005024.1	NP_005015.1					3	277	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Frame_Shift_Del	DEL	ENST00000238508.3	37	c.218delA	CCDS11990.1																																																																																				0.284	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		9	134						9	134	---	---	---	---
ZNF426	79088	broad.mit.edu	37	19	9639888	9639888	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9639888delT	ENST00000535489.1	-	6	1169	c.833delA	c.(832-834)aagfs	p.K278fs	ZNF426_ENST00000593003.1_Frame_Shift_Del_p.K240fs|ZNF426_ENST00000253115.2_Frame_Shift_Del_p.K278fs			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTGTAGGGCTTTTTTGCATT	0.418																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(718-720)agfs		zinc finger protein 426							142.0	139.0	140.0					19																	9639888		2203	4300	6503	SO:0001589	frameshift_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639888delT	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.833delA	19.37:g.9639888delT	ENSP00000439017:p.Lys278fs					ZNF426_ENST00000535489.1_Frame_Shift_Del_p.K278fs|ZNF426_ENST00000253115.2_Frame_Shift_Del_p.K278fs	p.K240fs			Q9BUY5	ZN426_HUMAN			6	1196	-			278					B3KTL2	Frame_Shift_Del	DEL	ENST00000535489.1	37	c.719delA	CCDS12215.1																																																																																				0.418	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		7	614						7	614	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	218						8	218	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		14	700						14	700	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		7	38						7	38	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488																																						ENST00000371764.4																			3	Deletion - Frameshift(3)	p.K691fs*4(3)	large_intestine(2)|ovary(1)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2065-2067)aafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							67.0	72.0	70.0					20																	47858504		2203	4300	6503	SO:0001589	frameshift_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858504delA	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs					DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron	p.K691fs	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		17	2074	+			691					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	ENST00000371764.4	37	c.2065delA	CCDS13416.1																																																																																				0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			8	445						8	445	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		8	1610						8	1610	---	---	---	---
KRTAP10-2	386679	broad.mit.edu	37	21	45970839	45970839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr21:45970839delC	ENST00000391621.1	-	1	549	c.503delG	c.(502-504)tgcfs	p.C168fs	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	168	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						AGCCGGCTGGCAGCTAGACTG	0.607																																						ENST00000391621.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(502-504)tcfs		keratin associated protein 10-2							115.0	117.0	116.0					21																	45970839		2203	4300	6503	SO:0001589	frameshift_variant	386679					keratin filament		g.chr21:45970839delC	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.503delG	21.37:g.45970839delC	ENSP00000375479:p.Cys168fs					TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	p.C168fs	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN			1	549	-			168			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Frame_Shift_Del	DEL	ENST00000391621.1	37	c.503delG	CCDS42955.1																																																																																				0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			62	397						62	397	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(484-486)ttfs		neurofibromin 2 (merlin)							143.0	145.0	144.0					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000347330.5_Intron	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		7	677						7	677	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		9	516						9	516	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-	rs375955867		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.65			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4048-4053)gcc>g		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689419_36689421delCCT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4049_4051delAGG	22.37:g.36689428_36689430delCCT	ENSP00000216181:p.Glu1350del						p.EA1350del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			30	4279_4281	-			1350	E -> EE (in Ref. 7).				A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.4049_4051delAGG	CCDS13927.1																																																																																				0.650	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		8	331						8	331	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.A971del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0				E -> G (in Ref. 1; BAG37501 and 3; AAI52559). {ECO:0000305}.	viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.65																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2899-2904)cct>c		zinc finger CCCH-type containing 7B																																				SO:0001651	inframe_deletion	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753399_41753401delCTG		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2900_2902delCTG	22.37:g.41753408_41753410delCTG	ENSP00000345793:p.Ala971del					ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3157_3159	+			983					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	In_Frame_Del	DEL	ENST00000352645.4	37	c.2900_2902delCTG	CCDS14013.1																																																																																				0.650	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	695						7	695	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		16	455						16	455	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		15	180						15	180	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171.0	156.0	161.0					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		7	880						7	880	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	919						7	919	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	753						7	753	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040|rs563910	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418																																						ENST00000412436.1																			0																																																			0							g.chrX:154578865delG																													X.37:g.154578865delG						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			9	71						9	71	---	---	---	---
