#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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		5	476	0	0	0	1	0	5	476				
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		6	420	0	0	0	1	0	6	420				
OPRL1	4987	broad.mit.edu	37	20	62729805	62729805	+	Silent	SNP	C	C	A	rs376128527		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:62729805C>A	ENST00000349451.3	+	6	1178	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	OPRL1_ENST00000355631.4_Silent_p.R256R|OPRL1_ENST00000336866.2_Silent_p.R256R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	256					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGAGAAGGACCGGAACCTGCG	0.657																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(766-768)Cgg>Agg		opiate receptor-like 1							121.0	107.0	112.0					20																	62729805		2203	4299	6502	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729805C>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.766C>A	20.37:g.62729805C>A						OPRL1_ENST00000336866.2_Silent_p.R256R|OPRL1_ENST00000355631.4_Silent_p.R256R	p.R256R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1178	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		256					Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.766C>A	CCDS13556.1																																																																																				0.657	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		9	377	1	0	0.00621372	1	0.00634317	9	377				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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		7	548	0	0	0	1	0	7	548				
ACTL7B	10880	broad.mit.edu	37	9	111617095	111617095	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:111617095G>A	ENST00000374667.3	-	1	2144	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	372						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTCAGGAGCGGCAGCCACTG	0.647																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1114-1116)gcC>gcT		actin-like 7B							26.0	33.0	31.0					9																	111617095		2151	4208	6359	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617095G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1116C>T	9.37:g.111617095G>A							p.A372A	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2144	-			372					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.1116C>T	CCDS6771.1																																																																																				0.647	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		4	238	0	0	0	1	0	4	238				
CLK1	1195	broad.mit.edu	37	2	201724929	201724929	+	Silent	SNP	G	G	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:201724929G>T	ENST00000321356.4	-	4	535	c.400C>A	c.(400-402)Cga>Aga	p.R134R	CLK1_ENST00000434813.2_Silent_p.R176R|CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000409769.2_5'Flank|Y_RNA_ENST00000516950.1_RNA	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	134					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTTTCCTTCGGTGACTCTTC	0.463																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(526-528)Cga>Aga		CDC-like kinase 1							175.0	147.0	156.0					2																	201724929		2203	4300	6503	SO:0001819	synonymous_variant	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201724929G>T	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.400C>A	2.37:g.201724929G>T						CLK1_ENST00000321356.4_Silent_p.R134R	p.R176R	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			4	860	-			134			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	c.526C>A	CCDS2331.1																																																																																				0.463	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			5	330	1	0	3.59834e-05	1	3.75146e-05	5	330				
PRPSAP1	5635	broad.mit.edu	37	17	74309083	74309083	+	Silent	SNP	G	G	A	rs148092431		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:74309083G>A	ENST00000446526.3	-	9	1312	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Silent_p.D186D	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	260					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TCTCCACATCGTCAATAATGT	0.512																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(865-867)gaC>gaT		phosphoribosyl pyrophosphate synthetase-associated protein 1		G		2,4404	4.2+/-10.8	0,2,2201	100.0	98.0	99.0		867	-7.9	0.0	17	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	PRPSAP1	NM_002766.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		289/386	74309083	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74309083G>A	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.867C>T	17.37:g.74309083G>A						PRPSAP1_ENST00000324684.4_Silent_p.D186D|PRPSAP1_ENST00000588364.1_5'UTR	p.D289D	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			9	1312	-			260					B2R6M4|Q96H06	Silent	SNP	ENST00000446526.3	37	c.867C>T	CCDS11743.2																																																																																				0.512	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		38	348	0	0	0	1	0	38	348				
FBXW5	54461	broad.mit.edu	37	9	139835466	139835466	+	Missense_Mutation	SNP	G	G	A	rs368494470		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139835466G>A	ENST00000325285.3	-	9	1694	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	539					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)	p.R539C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGTGGGGAGCGCCAGGCTTTG	0.672																																						ENST00000325285.3																			1	Substitution - Missense(1)	p.R539C(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1615-1617)Cgc>Tgc		F-box and WD repeat domain containing 5		G	CYS/ARG	0,4292		0,0,2146	69.0	61.0	64.0		1615	4.6	1.0	9		64	1,8449		0,1,4224	no	missense	FBXW5	NM_018998.2	180	0,1,6370	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	539/567	139835466	1,12741	2146	4225	6371	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139835466G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1615C>T	9.37:g.139835466G>A	ENSP00000313034:p.Arg539Cys					FBXW5_ENST00000483559.1_5'UTR	p.R539C	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	9	1694	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	539					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.1615C>T	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674100	0.88445	0.0	1.18E-4	ENSG00000159069	ENST00000325285	T	0.67345	-0.26	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.063203	0.64402	D	0.000004	T	0.80808	0.4694	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	D	0.83522	0.0086	10	0.72032	D	0.01	-0.5139	16.0315	0.80582	0.0:0.0:1.0:0.0	.	404;539	Q59ET5;Q969U6	.;FBXW5_HUMAN	C	539	ENSP00000313034:R539C	ENSP00000313034:R539C	R	-	1	0	FBXW5	138955287	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.184000	0.77705	2.126000	0.65437	0.561000	0.74099	CGC		0.672	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		3	15	0	0	0	1	0	3	15				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	93	0	0	0	1	0	4	93				
TGFBR1	7046	broad.mit.edu	37	9	101900330	101900330	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:101900330G>A	ENST00000374994.4	+	4	881	c.764G>A	c.(763-765)cGt>cAt	p.R255H	TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259H|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R255L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTAATGTTACGTCATGAAAAC	0.378																																						ENST00000374994.4																			1	Substitution - Missense(1)	p.R255L(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(763-765)cGt>cAt		transforming growth factor, beta receptor 1							138.0	136.0	137.0					9																	101900330		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101900330G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.764G>A	9.37:g.101900330G>A	ENSP00000364133:p.Arg255His					TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259H|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178H	p.R255H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			4	881	+		Acute lymphoblastic leukemia(62;0.0559)	255			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.764G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510468	0.85389	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95388	0.8479	9	.	.	.	.	17.8646	0.88792	0.0:0.0:1.0:0.0	.	178;255	P36897-3;P36897	.;TGFR1_HUMAN	H	255;255;178;259;109;186	ENSP00000364133:R255H;ENSP00000364129:R178H;ENSP00000447297:R259H;ENSP00000449028:R109H;ENSP00000450052:R186H	.	R	+	2	0	TGFBR1	100940151	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.810000	0.99221	2.530000	0.85305	0.655000	0.94253	CGT		0.378	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			6	300	0	0	0	1	0	6	300				
MAPK8IP3	23162	broad.mit.edu	37	16	1814146	1814146	+	Silent	SNP	C	C	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:1814146C>A	ENST00000250894.4	+	18	2210	c.2053C>A	c.(2053-2055)Cgg>Agg	p.R685R	MAPK8IP3_ENST00000356010.5_Silent_p.R679R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	685					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGGACACGCGGATGAAGAA	0.672																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2053-2055)Cgg>Agg		mitogen-activated protein kinase 8 interacting protein 3							34.0	45.0	41.0					16																	1814146		2101	4205	6306	SO:0001819	synonymous_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1814146C>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2053C>A	16.37:g.1814146C>A						MAPK8IP3_ENST00000356010.5_Silent_p.R679R	p.R685R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			18	2210	+			685					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	c.2053C>A	CCDS10442.2																																																																																				0.672	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		6	238	1	0	1	1	1	6	238				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			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.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		12	317	1	0	1.5739e-10	1	1.65852e-10	12	317				
POU6F1	5463	broad.mit.edu	37	12	51586202	51586202	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:51586202G>A	ENST00000389243.4	-	9	1241	c.302C>T	c.(301-303)gCc>gTc	p.A101V	POU6F1_ENST00000550824.1_Missense_Mutation_p.A101V|POU6F1_ENST00000333640.10_Missense_Mutation_p.A101V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	101	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGCTGGGCTGGCAATGACCAC	0.612																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(301-303)gCc>gTc		POU class 6 homeobox 1							90.0	88.0	89.0					12																	51586202		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51586202G>A	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.302C>T	12.37:g.51586202G>A	ENSP00000373895:p.Ala101Val					POU6F1_ENST00000550824.1_Missense_Mutation_p.A101V|POU6F1_ENST00000333640.10_Missense_Mutation_p.A101V	p.A101V			Q14863	PO6F1_HUMAN			9	1241	-			101			Gln/Pro-rich.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.302C>T	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577348	0.45902	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.86230	-2.09;-2.09;-2.09	5.69	4.75	0.60458	.	0.553568	0.20789	N	0.085655	T	0.81302	0.4794	L	0.34521	1.04	0.25496	N	0.987598	B	0.14438	0.01	B	0.04013	0.001	T	0.70342	-0.4898	10	0.40728	T	0.16	.	15.0878	0.72167	0.0:0.1424:0.8576:0.0	.	101	Q14863	PO6F1_HUMAN	V	101	ENSP00000373895:A101V;ENSP00000330190:A101V;ENSP00000448389:A101V	ENSP00000330190:A101V	A	-	2	0	POU6F1	49872469	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.445000	0.52921	2.695000	0.91970	0.655000	0.94253	GCC		0.612	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		5	478	0	0	0	1	0	5	478				
TGFBR2	7048	broad.mit.edu	37	3	30715708	30715708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:30715708G>T	ENST00000295754.5	+	5	1748	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E481*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	456	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGTGCTCTGGGAAATGACATC	0.458																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1366-1368)Gaa>Taa		transforming growth factor, beta receptor II (70/80kDa)							154.0	131.0	138.0					3																	30715708		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30715708G>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1366G>T	3.37:g.30715708G>T	ENSP00000295754:p.Glu456*					TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E481*	p.E456*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			5	1748	+			456			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.1366G>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	43	9.989757	0.99312	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	456;481;286	.	ENSP00000295754:E456X	E	+	1	0	TGFBR2	30690712	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.701000	0.92244	0.650000	0.86243	GAA		0.458	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			22	245	1	0	7.41877e-09	1	7.77583e-09	22	245				
NAV3	89795	broad.mit.edu	37	12	78510672	78510672	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:78510672G>C	ENST00000397909.2	+	13	2930	c.2757G>C	c.(2755-2757)agG>agC	p.R919S	NAV3_ENST00000228327.6_Missense_Mutation_p.R919S|NAV3_ENST00000266692.7_Missense_Mutation_p.R919S|NAV3_ENST00000536525.2_Missense_Mutation_p.R919S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	919						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCCCTCTAGGAAGAATACTC	0.438										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2755-2757)agG>agC		neuron navigator 3							180.0	171.0	174.0					12																	78510672		1996	4214	6210	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78510672G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2757G>C	12.37:g.78510672G>C	ENSP00000381007:p.Arg919Ser	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.R919S|NAV3_ENST00000536525.2_Missense_Mutation_p.R919S|NAV3_ENST00000228327.6_Missense_Mutation_p.R919S	p.R919S			Q8IVL0	NAV3_HUMAN			13	2930	+			919					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2757G>C		.	.	.	.	.	.	.	.	.	.	G	7.640	0.680645	0.14907	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.41400	1.12;1.15;1.14;1.0	5.71	1.68	0.24146	.	0.161609	0.27866	U	0.017533	T	0.28333	0.0700	L	0.36672	1.1	0.80722	D	1	B;B;B	0.28713	0.049;0.22;0.002	B;B;B	0.24541	0.016;0.054;0.008	T	0.06391	-1.0829	10	0.87932	D	0	-20.3424	6.4092	0.21682	0.4025:0.1194:0.4782:0.0	.	919;919;919	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	S	919	ENSP00000446132:R919S;ENSP00000381007:R919S;ENSP00000228327:R919S;ENSP00000266692:R919S	ENSP00000228327:R919S	R	+	3	2	NAV3	77034803	0.999000	0.42202	0.495000	0.27527	0.048000	0.14542	0.540000	0.23191	0.029000	0.15352	-0.259000	0.10710	AGG		0.438	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	346	0	0	0	1	0	6	346				
POLR2A	5430	broad.mit.edu	37	17	7405016	7405016	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7405016G>A	ENST00000322644.6	+	14	2716	c.2317G>A	c.(2317-2319)Gga>Aga	p.G773R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	773					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGTCGTGTCCGGAGCTAAAGG	0.483																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2317-2319)Gga>Aga		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							63.0	59.0	61.0					17																	7405016		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405016G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2317G>A	17.37:g.7405016G>A	ENSP00000314949:p.Gly773Arg						p.G773R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			14	2716	+		Prostate(122;0.173)	773					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2317G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947770	0.92593	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.97378	-4.36	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	-6.8597	18.8608	0.92271	0.0:0.0:1.0:0.0	.	773	P24928	RPB1_HUMAN	R	729;773	ENSP00000314949:G773R	ENSP00000314949:G773R	G	+	1	0	SLC35G6	7345740	1.000000	0.71417	0.904000	0.35570	0.986000	0.74619	9.627000	0.98412	2.761000	0.94854	0.655000	0.94253	GGA		0.483	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	198	0	0	0	1	0	4	198				
EFS	10278	broad.mit.edu	37	14	23829227	23829227	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:23829227C>T	ENST00000216733.3	-	4	1067	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	EFS_ENST00000429593.2_Missense_Mutation_p.A61T|EFS_ENST00000351354.3_Missense_Mutation_p.A61T	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	154	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		ACCCGGAGGGCGGTGGGGGGC	0.637																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(460-462)Gcc>Acc		embryonal Fyn-associated substrate							36.0	41.0	39.0					14																	23829227		2200	4295	6495	SO:0001583	missense	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829227C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.460G>A	14.37:g.23829227C>T	ENSP00000216733:p.Ala154Thr					EFS_ENST00000351354.3_Missense_Mutation_p.A61T|EFS_ENST00000429593.2_Missense_Mutation_p.A61T	p.A154T	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1067	-	all_cancers(95;7.12e-06)		154			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.460G>A	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207479	0.58343	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.57907	0.37;0.67;0.8	5.32	4.42	0.53409	.	0.471664	0.23237	N	0.050387	T	0.47377	0.1442	M	0.62723	1.935	0.33255	D	0.558962	P;P;P	0.52577	0.94;0.954;0.923	B;B;B	0.41619	0.259;0.361;0.198	T	0.60449	-0.7261	10	0.26408	T	0.33	-7.6625	10.4055	0.44254	0.0:0.907:0.0:0.093	.	61;61;154	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	T	154;61;61	ENSP00000216733:A154T;ENSP00000340607:A61T;ENSP00000416684:A61T	ENSP00000216733:A154T	A	-	1	0	EFS	22899067	0.981000	0.34729	0.903000	0.35520	0.393000	0.30537	1.155000	0.31700	1.450000	0.47717	0.563000	0.77884	GCC		0.637	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			5	343	0	0	0	1	0	5	343				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	145	0	0	0	1	0	5	145				
LTK	4058	broad.mit.edu	37	15	41797479	41797479	+	Missense_Mutation	SNP	G	G	A	rs149973033		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41797479G>A	ENST00000263800.6	-	15	1948	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W	LTK_ENST00000453182.2_Missense_Mutation_p.R488W|LTK_ENST00000355166.5_Missense_Mutation_p.R557W|LTK_ENST00000561619.1_Missense_Mutation_p.R316W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGCAGGTCCCGCATGACCAGA	0.612										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(1852-1854)Cgg>Tgg		leukocyte receptor tyrosine kinase		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	46.0	47.0		1462,1852,1669	3.3	1.0	15	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	101,101,101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	488/735,618/865,557/804	41797479	3,13003	2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797479G>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1852C>T	15.37:g.41797479G>A	ENSP00000263800:p.Arg618Trp	TSP Lung(18;0.14)				LTK_ENST00000453182.2_Missense_Mutation_p.R488W|LTK_ENST00000355166.5_Missense_Mutation_p.R557W|LTK_ENST00000561619.1_Missense_Mutation_p.R316W	p.R618W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	15	1948	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	618			Protein kinase.		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1852C>T	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379553	0.42207	2.27E-4	2.33E-4	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.83163	-1.69;-1.69;-1.69	4.29	3.34	0.38264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88385	0.6422	M	0.73372	2.23	0.32016	N	0.601376	D;B;D;D	0.76494	0.999;0.004;0.997;0.997	D;B;P;P	0.64877	0.93;0.002;0.764;0.846	D	0.88120	0.2831	9	0.66056	D	0.02	.	10.3412	0.43879	0.1028:0.0:0.8972:0.0	.	488;488;557;618	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	W	557;618;488	ENSP00000347293:R557W;ENSP00000263800:R618W;ENSP00000392196:R488W	ENSP00000263800:R618W	R	-	1	2	LTK	39584771	1.000000	0.71417	0.953000	0.39169	0.788000	0.44548	3.436000	0.52856	0.960000	0.38005	0.561000	0.74099	CGG		0.612	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			5	223	0	0	0	1	0	5	223				
C17orf97	400566	broad.mit.edu	37	17	263726	263726	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:263726C>T	ENST00000360127.6	+	2	1108	c.1092C>T	c.(1090-1092)ggC>ggT	p.G364G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	394	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACACTG	0.672																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1090-1092)ggC>ggT		chromosome 17 open reading frame 97							41.0	48.0	45.0					17																	263726		2203	4300	6503	SO:0001819	synonymous_variant	400566							g.chr17:263726C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1092C>T	17.37:g.263726C>T						AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.G364G	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	1108	+			394			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	c.1092C>T	CCDS32519.2																																																																																				0.672	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		9	300	0	0	0	1	0	9	300				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			6	152	0	0	0	1	0	6	152				
DNMT3A	1788	broad.mit.edu	37	2	25505560	25505560	+	Silent	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:25505560T>C	ENST00000264709.3	-	4	535	c.198A>G	c.(196-198)ccA>ccG	p.P66P	DNMT3A_ENST00000406659.3_Silent_p.P66P|DNMT3A_ENST00000321117.5_Silent_p.P66P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	66					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGTCCTTTGGCGTGTCAC	0.542			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(196-198)ccA>ccG		DNA (cytosine-5-)-methyltransferase 3 alpha							48.0	58.0	55.0					2																	25505560		2202	4297	6499	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25505560T>C		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.198A>G	2.37:g.25505560T>C						DNMT3A_ENST00000321117.5_Silent_p.P66P|DNMT3A_ENST00000406659.3_Silent_p.P66P	p.P66P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			4	535	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		66					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.198A>G	CCDS33157.1																																																																																				0.542	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		14	288	0	0	0	1	0	14	288				
XPO6	23214	broad.mit.edu	37	16	28167671	28167671	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:28167671A>G	ENST00000304658.5	-	7	1321	c.821T>C	c.(820-822)aTc>aCc	p.I274T	XPO6_ENST00000565698.1_Missense_Mutation_p.I260T|XPO6_ENST00000561488.1_5'Flank	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	274					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAAGTGGAAGATGGTGGTAAG	0.567																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(820-822)aTc>aCc		exportin 6							93.0	98.0	97.0					16																	28167671		2033	4192	6225	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28167671A>G	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.821T>C	16.37:g.28167671A>G	ENSP00000302790:p.Ile274Thr					XPO6_ENST00000565698.1_Missense_Mutation_p.I260T	p.I274T	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			7	1321	-			274					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.821T>C	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301967	0.81136	.	.	ENSG00000169180	ENST00000304658	T	0.51574	0.7	5.87	5.87	0.94306	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.61703	1.905	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70487	0.969;0.954	T	0.68172	-0.5479	10	0.87932	D	0	-20.6372	14.5226	0.67863	1.0:0.0:0.0:0.0	.	274;274	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	274	ENSP00000302790:I274T	ENSP00000302790:I274T	I	-	2	0	XPO6	28075172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ATC		0.567	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		6	334	0	0	0	1	0	6	334				
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562																																						ENST00000371320.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(664-666)gGc>gAc		single stranded DNA binding protein 3							145.0	153.0	150.0					1																	54708959		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54708959C>T		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.665G>A	1.37:g.54708959C>T	ENSP00000360371:p.Gly222Asp					SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D	p.G222D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN			10	1075	-			222			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.665G>A	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC		0.562	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		7	926	0	0	0	1	0	7	926				
POFUT2	23275	broad.mit.edu	37	21	46705777	46705777	+	Silent	SNP	G	G	A	rs377468764		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:46705777G>A	ENST00000349485.5	-	2	224	c.198C>T	c.(196-198)atC>atT	p.I66I	BX322557.10_ENST00000454115.2_RNA|POFUT2_ENST00000471540.1_5'Flank|POFUT2_ENST00000331343.7_Silent_p.I66I	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	66					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGAGAGAGGCGATTCGGATAT	0.572																																						ENST00000331343.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(196-198)atC>atT		protein O-fucosyltransferase 2		G	,	0,4406		0,0,2203	86.0	93.0	91.0		198,198	-9.3	0.0	21		91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	POFUT2	NM_015227.4,NM_133635.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	66/425,66/430	46705777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46705777G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.198C>T	21.37:g.46705777G>A						POFUT2_ENST00000349485.5_Silent_p.I66I	p.I66I	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	2	224	-			66					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.198C>T	CCDS13719.1																																																																																				0.572	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		5	511	0	0	0	1	0	5	511				
SUSD2	56241	broad.mit.edu	37	22	24579549	24579549	+	Missense_Mutation	SNP	G	G	A	rs370061442		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:24579549G>A	ENST00000358321.3	+	3	635	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	125					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGAGCGGCCGCATCCCCTTC	0.647																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(373-375)cGc>cAc		sushi domain containing 2		G	HIS/ARG	0,4406		0,0,2203	112.0	96.0	101.0		374	-2.8	0.4	22		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	SUSD2	NM_019601.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	125/823	24579549	1,13005	2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579549G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.374G>A	22.37:g.24579549G>A	ENSP00000351075:p.Arg125His						p.R125H	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			3	635	+			125					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.374G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176100	0.21704	0.0	1.16E-4	ENSG00000099994	ENST00000358321	T	0.07800	3.16	3.5	-2.78	0.05859	.	0.909157	0.09560	N	0.785759	T	0.04003	0.0112	N	0.25426	0.745	0.20489	N	0.999894	B	0.12630	0.006	B	0.04013	0.001	T	0.46527	-0.9185	10	0.17369	T	0.5	-15.4335	0.6009	0.00744	0.378:0.1723:0.2747:0.175	.	125	Q9UGT4	SUSD2_HUMAN	H	125	ENSP00000351075:R125H	ENSP00000351075:R125H	R	+	2	0	SUSD2	22909549	0.043000	0.20138	0.359000	0.25824	0.847000	0.48162	0.265000	0.18515	-0.438000	0.07232	0.449000	0.29647	CGC		0.647	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		6	356	0	0	0	1	0	6	356				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	196	0	0	0	1	0	7	196				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	563	0	0	0	1	0	11	563				
SLC6A1	6529	broad.mit.edu	37	3	11067472	11067472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:11067472C>T	ENST00000287766.4	+	9	1284	c.863C>T	c.(862-864)gCg>gTg	p.A288V	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A110V	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	288					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TGGCTGGATGCGGCAACCCAG	0.517																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(862-864)gCg>gTg		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						105.0	106.0	106.0					3																	11067472		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067472C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.863C>T	3.37:g.11067472C>T	ENSP00000287766:p.Ala288Val					SLC6A1_ENST00000536032.1_Missense_Mutation_p.A110V	p.A288V	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	9	1284	+		Ovarian(110;0.0392)	288					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.863C>T	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030610	0.93575	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	D;D	0.91124	-2.79;-2.79	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000004	D	0.97461	0.9169	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99016	1.0816	10	0.87932	D	0	.	18.4501	0.90700	0.0:1.0:0.0:0.0	.	288	P30531	SC6A1_HUMAN	V	288;110	ENSP00000287766:A288V;ENSP00000445171:A110V	ENSP00000287766:A288V	A	+	2	0	SLC6A1	11042472	1.000000	0.71417	0.984000	0.44739	0.797000	0.45037	7.449000	0.80643	2.595000	0.87683	0.561000	0.74099	GCG		0.517	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		5	471	0	0	0	1	0	5	471				
FAM71B	153745	broad.mit.edu	37	5	156590199	156590199	+	Silent	SNP	C	C	T	rs369213663		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:156590199C>T	ENST00000302938.4	-	2	1172	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	359						nucleus (GO:0005634)		p.S359S(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCCGCCATCGAGGTGGAAG	0.572																																						ENST00000302938.4																			1	Substitution - coding silent(1)	p.S359S(1)	large_intestine(1)	NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1075-1077)tcG>tcA		family with sequence similarity 71, member B		C		0,4406		0,0,2203	35.0	38.0	37.0		1077	-4.0	0.0	5		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM71B	NM_130899.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		359/606	156590199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590199C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1077G>A	5.37:g.156590199C>T							p.S359S	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1172	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	359					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1077G>A	CCDS4335.1																																																																																				0.572	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		21	185	0	0	0	1	0	21	185				
GNAO1	2775	broad.mit.edu	37	16	56374750	56374750	+	Intron	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:56374750G>A	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.R243H	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGCAGAACCGCATGCACGAA	0.532																																						ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(727-729)cGc>cAc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							246.0	247.0	247.0					16																	56374750		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56374750G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+3978G>A	16.37:g.56374750G>A						GNAO1_ENST00000262493.6_Intron	p.R243H	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			7	988	+		all_neural(199;0.159)	243					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.728G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155658	0.94686	.	.	ENSG00000087258	ENST00000262494	D	0.92249	-3.0	5.02	5.02	0.67125	.	.	.	.	.	D	0.98124	0.9381	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99882	1.1114	9	0.87932	D	0	.	18.3413	0.90307	0.0:0.0:1.0:0.0	.	243	P09471-2	.	H	243	ENSP00000262494:R243H	ENSP00000262494:R243H	R	+	2	0	GNAO1	54932251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.332000	0.79248	0.561000	0.74099	CGC		0.532	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		8	973	0	0	0	1	0	8	973				
CPA5	93979	broad.mit.edu	37	7	130008354	130008354	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:130008354G>A	ENST00000485477.1	+	12	2356	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	CPA5_ENST00000466363.2_Silent_p.P409P|CPA5_ENST00000461828.1_Silent_p.P409P|CPA5_ENST00000393213.3_Silent_p.P409P|CPA5_ENST00000431780.2_Missense_Mutation_p.R381Q|CPA5_ENST00000355388.3_Silent_p.P409P|CPA5_ENST00000474905.1_Silent_p.P409P			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	409						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCCTGCTGCCGGCCACACAGA	0.612																																						ENST00000431780.2																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1141-1143)cGg>cAg		carboxypeptidase A5							133.0	112.0	119.0					7																	130008354		2203	4300	6503	SO:0001819	synonymous_variant	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008354G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1227G>A	7.37:g.130008354G>A						CPA5_ENST00000485477.1_Silent_p.P409P|CPA5_ENST00000461828.1_Silent_p.P409P|CPA5_ENST00000355388.3_Silent_p.P409P|CPA5_ENST00000466363.2_Silent_p.P409P|CPA5_ENST00000393213.3_Silent_p.P409P|CPA5_ENST00000474905.1_Silent_p.P409P	p.R381Q	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN			11	1587	+	Melanoma(18;0.0435)		0					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1142G>A	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	0.705	-0.789176	0.02884	.	.	ENSG00000158525	ENST00000431780;ENST00000479492	T	0.12774	2.65	5.85	-11.7	0.00046	.	.	.	.	.	T	0.05777	0.0151	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31420	-0.9944	7	.	.	.	.	8.197	0.31402	0.6118:0.1479:0.1748:0.0655	.	381	G3V0G8	.	Q	381;58	ENSP00000393045:R381Q	.	R	+	2	0	CPA5	129795590	0.000000	0.05858	0.046000	0.18839	0.006000	0.05464	-3.373000	0.00493	-3.150000	0.00231	-4.470000	0.00005	CGG		0.612	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		6	419	0	0	0	1	0	6	419				
PTPN5	84867	broad.mit.edu	37	11	18754215	18754215	+	Missense_Mutation	SNP	G	G	A	rs367543224		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:18754215G>A	ENST00000358540.2	-	12	1683	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	PTPN5_ENST00000396167.2_Missense_Mutation_p.A386V|PTPN5_ENST00000477854.1_Missense_Mutation_p.A222V|PTPN5_ENST00000396168.1_Missense_Mutation_p.A394V|PTPN5_ENST00000396166.3_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.A418V|PTPN5_ENST00000396170.1_Missense_Mutation_p.A386V	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	418	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACCGTCGTACGCCACCTGCTC	0.572											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(1156-1158)gCg>gTg		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							140.0	126.0	131.0					11																	18754215		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18754215G>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1253C>T	11.37:g.18754215G>A	ENSP00000351342:p.Ala418Val		OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	728	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.A394V|PTPN5_ENST00000477854.1_Missense_Mutation_p.A222V|PTPN5_ENST00000396171.4_Missense_Mutation_p.A418V|PTPN5_ENST00000358540.2_Missense_Mutation_p.A418V|PTPN5_ENST00000396167.2_Missense_Mutation_p.A386V	p.A386V	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			12	2421	-			418			Tyrosine-protein phosphatase.		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.1157C>T	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	g	6.138	0.393746	0.11638	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.55	3.19	0.36642	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.490245	0.20026	N	0.100810	T	0.56819	0.2011	N	0.04746	-0.17	0.21416	N	0.999693	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47446	-0.9117	10	0.02654	T	1	.	4.3729	0.11256	0.6621:0.0:0.1925:0.1454	.	418;386	P54829;B3KXG7	PTN5_HUMAN;.	V	222;418;386;418;386;394	ENSP00000435056:A222V;ENSP00000351342:A418V;ENSP00000379473:A386V;ENSP00000379474:A418V;ENSP00000379470:A386V;ENSP00000379471:A394V	ENSP00000351342:A418V	A	-	2	0	PTPN5	18710791	0.453000	0.25721	0.545000	0.28153	0.995000	0.86356	1.154000	0.31688	0.372000	0.24591	-0.285000	0.09966	GCG		0.572	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		24	415	0	0	0	1	0	24	415				
ESPL1	9700	broad.mit.edu	37	12	53663505	53663505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:53663505G>A	ENST00000257934.4	+	3	870	c.779G>A	c.(778-780)cGt>cAt	p.R260H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R260H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	260					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAACACTGCCGTCGCTTTTGC	0.572																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(778-780)cGt>cAt		extra spindle pole bodies homolog 1 (S. cerevisiae)							67.0	67.0	67.0					12																	53663505		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663505G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.779G>A	12.37:g.53663505G>A	ENSP00000257934:p.Arg260His					ESPL1_ENST00000552462.1_Missense_Mutation_p.R260H	p.R260H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	870	+			260						Missense_Mutation	SNP	ENST00000257934.4	37	c.779G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429533	0.83776	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.15256	2.44;2.44	5.41	4.5	0.54988	.	0.131175	0.50627	D	0.000102	T	0.36663	0.0975	M	0.72118	2.19	0.37632	D	0.921717	D	0.89917	1.0	D	0.63283	0.913	T	0.18116	-1.0347	9	.	.	.	.	13.5552	0.61756	0.0776:0.0:0.9224:0.0	.	260	Q14674	ESPL1_HUMAN	H	260	ENSP00000257934:R260H;ENSP00000449831:R260H	.	R	+	2	0	ESPL1	51949772	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.064000	0.57506	2.815000	0.96918	0.561000	0.74099	CGT		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		6	414	0	0	0	1	0	6	414				
AUTS2	26053	broad.mit.edu	37	7	69583117	69583117	+	Splice_Site	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:69583117G>C	ENST00000342771.4	+	3	843		c.e3-1		AUTS2_ENST00000403018.2_Splice_Site|AUTS2_ENST00000406775.2_Splice_Site	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTTGCCTTTAGCTCAAGCCAG	0.498																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.e3-1		autism susceptibility candidate 2							49.0	51.0	51.0					7																	69583117		2203	4300	6503	SO:0001630	splice_region_variant	26053							g.chr7:69583117G>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.523-1G>C	7.37:g.69583117G>C						AUTS2_ENST00000406775.2_Splice_Site|AUTS2_ENST00000403018.2_Splice_Site		NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	3	843	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)						A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Splice_Site	SNP	ENST00000342771.4	37		CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512937	0.85389	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2224	0.93803	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AUTS2	69221053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.302000	0.89953	2.765000	0.95021	0.655000	0.94253	.		0.498	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		Intron	4	220	0	0	0	1	0	4	220				
MAPT	4137	broad.mit.edu	37	17	44060672	44060672	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:44060672C>T	ENST00000571987.1	+	5	502	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168C|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168C|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.R168C|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000420682.2_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	168					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	AGAGGCCACACGCCAACCTTC	0.692																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(502-504)Cgc>Tgc		microtubule-associated protein tau							13.0	15.0	14.0					17																	44060672		2196	4292	6488	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060672C>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.502C>T	17.37:g.44060672C>T	ENSP00000458742:p.Arg168Cys					MAPT_ENST00000535772.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168C|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.R168C|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168C	p.R168C	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	824	+		Melanoma(429;0.216)	168					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.502C>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188535	0.38609	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10382	2.88;2.88;2.88	4.03	-2.5	0.06384	.	2.448770	0.01389	N	0.013192	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.0	T	0.37934	-0.9684	10	0.52906	T	0.07	4.9526	4.149	0.10228	0.0:0.3518:0.3326:0.3156	.	168;168	P10636-9;P10636	.;TAU_HUMAN	C	168	ENSP00000340820:R168C;ENSP00000262410:R168C;ENSP00000410838:R168C	ENSP00000262410:R168C	R	+	1	0	MAPT	41416509	0.000000	0.05858	0.000000	0.03702	0.427000	0.31564	-2.823000	0.00748	-0.148000	0.11234	0.561000	0.74099	CGC		0.692	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		5	57	0	0	0	1	0	5	57				
WLS	79971	broad.mit.edu	37	1	68615942	68615942	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:68615942C>T	ENST00000262348.4	-	6	1154	c.901G>A	c.(901-903)Gac>Aac	p.D301N	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.D210N|WLS_ENST00000540432.1_Missense_Mutation_p.D301N|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.D299N|WLS_ENST00000491811.1_5'UTR	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	301					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGTCGGATGTCACCAAACAGC	0.512																																						ENST00000262348.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(901-903)Gac>Aac		wntless Wnt ligand secretion mediator							146.0	131.0	136.0					1																	68615942		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68615942C>T	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.901G>A	1.37:g.68615942C>T	ENSP00000262348:p.Asp301Asn					GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Missense_Mutation_p.D301N|WLS_ENST00000354777.2_Missense_Mutation_p.D299N|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.D210N	p.D301N	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN			6	1154	-			301					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.901G>A	CCDS642.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309247	0.95629	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.68032	-0.5516	10	0.51188	T	0.08	-33.6655	18.0034	0.89203	0.0:1.0:0.0:0.0	.	301;210;301;299	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	N	301;299;301;210	ENSP00000446112:D301N;ENSP00000346829:D299N;ENSP00000262348:D301N;ENSP00000360015:D210N	ENSP00000262348:D301N	D	-	1	0	WLS	68388530	1.000000	0.71417	0.953000	0.39169	0.943000	0.58893	7.298000	0.78815	2.248000	0.74166	0.563000	0.77884	GAC		0.512	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		47	382	0	0	0	1	0	47	382				
FOXC2	2303	broad.mit.edu	37	16	86601494	86601494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:86601494G>A	ENST00000320354.4	+	1	638	c.553G>A	c.(553-555)Gag>Aag	p.E185K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	185					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCACCTCAAGGAGCCGCCCCC	0.682									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(553-555)Gag>Aag		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							14.0	21.0	18.0					16																	86601494		2060	4113	6173	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|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 factor binding|transcription regulatory region DNA binding	g.chr16:86601494G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.553G>A	16.37:g.86601494G>A	ENSP00000326371:p.Glu185Lys						p.E185K	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	638	+			185					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.553G>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.758706	0.49468	.	.	ENSG00000176692	ENST00000320354	D	0.95001	-3.58	4.23	4.23	0.50019	.	1.447760	0.04727	U	0.420400	D	0.91935	0.7446	L	0.39898	1.24	0.48087	D	0.999582	B	0.11235	0.004	B	0.09377	0.004	T	0.70608	-0.4825	10	0.11182	T	0.66	.	15.2735	0.73723	0.0:0.0:1.0:0.0	.	185	Q99958	FOXC2_HUMAN	K	185	ENSP00000326371:E185K	ENSP00000326371:E185K	E	+	1	0	FOXC2	85158995	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.154000	0.64894	1.917000	0.55516	0.553000	0.69018	GAG		0.682	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		5	232	0	0	0	1	0	5	232				
MIOS	54468	broad.mit.edu	37	7	7625382	7625382	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:7625382G>C	ENST00000340080.4	+	7	2185	c.1764G>C	c.(1762-1764)ttG>ttC	p.L588F	MIOS_ENST00000405785.1_Missense_Mutation_p.L588F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	588						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCCGTATTTGTGTGTCATGT	0.383																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1762-1764)ttG>ttC		missing oocyte, meiosis regulator, homolog (Drosophila)							162.0	155.0	157.0					7																	7625382		1876	4107	5983	SO:0001583	missense	54468							g.chr7:7625382G>C		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1764G>C	7.37:g.7625382G>C	ENSP00000339881:p.Leu588Phe					MIOS_ENST00000405785.1_Missense_Mutation_p.L588F	p.L588F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			7	2185	+			588					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1764G>C	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445831	0.43429	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.58210	0.35;0.35	5.46	-5.98	0.02220	.	0.000000	0.85682	D	0.000000	T	0.52370	0.1730	L	0.55834	1.745	0.49687	D	0.999814	D	0.54964	0.969	P	0.61592	0.891	T	0.59284	-0.7483	10	0.66056	D	0.02	-7.714	4.7574	0.13092	0.2284:0.4582:0.2193:0.0941	.	588	Q9NXC5	MIO_HUMAN	F	588	ENSP00000339881:L588F;ENSP00000384088:L588F	ENSP00000339881:L588F	L	+	3	2	MIOS	7591907	0.393000	0.25237	0.113000	0.21522	0.612000	0.37316	-0.341000	0.07811	-1.651000	0.01504	-0.229000	0.12294	TTG		0.383	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		6	403	0	0	0	1	0	6	403				
UGT3A1	133688	broad.mit.edu	37	5	35954469	35954469	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:35954469C>T	ENST00000274278.3	-	7	1764	c.1407G>A	c.(1405-1407)acG>acA	p.T469T	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	469						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTGAGGTGCGTCGCTCCCC	0.602																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1405-1407)acG>acA		UDP glycosyltransferase 3 family, polypeptide A1							101.0	77.0	85.0					5																	35954469		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954469C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1407G>A	5.37:g.35954469C>T							p.T469T	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1764	-	all_lung(31;0.000197)		469					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.1407G>A	CCDS3913.1																																																																																				0.602	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		5	154	0	0	0	1	0	5	154				
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)cGt>cAt		GNAS complex locus							80.0	78.0	79.0					20																	57484421		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	TSP Lung(22;0.16)				GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H	p.R844H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3083	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		5	210	0	0	0	1	0	5	210				
SLC35G5	83650	broad.mit.edu	37	8	11188775	11188775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:11188775G>A	ENST00000382435.4	+	1	379	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	54	EamA 1.					integral component of membrane (GO:0016021)											TGCTGGCTTCGTGGGCCCCCT	0.662																																						ENST00000382435.4																			0											c.(160-162)Gtg>Atg		solute carrier family 35, member G5							75.0	78.0	77.0					8																	11188775		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11188775G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.160G>A	8.37:g.11188775G>A	ENSP00000371872:p.Val54Met						p.V54M	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	379	+			54			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.160G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350573	0.41599	.	.	ENSG00000177710	ENST00000382435	T	0.52057	0.68	0.34	0.34	0.15985	.	0.000000	0.40469	N	0.001093	T	0.48314	0.1493	L	0.32530	0.975	0.34820	D	0.738583	D	0.89917	1.0	D	0.72982	0.979	T	0.54070	-0.8348	10	0.33940	T	0.23	-6.0135	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	54	Q96KT7	S35G5_HUMAN	M	54	ENSP00000371872:V54M	ENSP00000371872:V54M	V	+	1	0	SLC35G5	11226185	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	1.667000	0.37471	0.426000	0.26116	0.089000	0.15464	GTG		0.662	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		5	355	0	0	0	1	0	5	355				
AKAP6	9472	broad.mit.edu	37	14	33290803	33290803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:33290803G>A	ENST00000280979.4	+	13	3954	c.3784G>A	c.(3784-3786)Gac>Aac	p.D1262N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1262					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCCTGGTTATGACGAGGAGGC	0.448																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(3784-3786)Gac>Aac		A kinase (PRKA) anchor protein 6							108.0	93.0	98.0					14																	33290803		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290803G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3784G>A	14.37:g.33290803G>A	ENSP00000280979:p.Asp1262Asn					AKAP6_ENST00000557272.1_Intron	p.D1262N	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	3954	+	Breast(36;0.0388)|Prostate(35;0.15)		1262					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3784G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367025	0.41902	.	.	ENSG00000151320	ENST00000280979	T	0.05319	3.46	6.03	6.03	0.97812	.	0.414559	0.26828	N	0.022293	T	0.05273	0.0140	N	0.14661	0.345	0.80722	D	1	B	0.32245	0.361	B	0.21360	0.034	T	0.45026	-0.9289	10	0.66056	D	0.02	-10.2954	18.7374	0.91761	0.0:0.0:1.0:0.0	.	1262	Q13023	AKAP6_HUMAN	N	1262	ENSP00000280979:D1262N	ENSP00000280979:D1262N	D	+	1	0	AKAP6	32360554	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.563000	0.67352	2.861000	0.98227	0.655000	0.94253	GAC		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		5	192	0	0	0	1	0	5	192				
NUTF2	10204	broad.mit.edu	37	16	67904796	67904796	+	Missense_Mutation	SNP	G	G	A	rs201657691		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:67904796G>A	ENST00000219169.4	+	5	647	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	EDC4_ENST00000358933.5_5'Flank|NUTF2_ENST00000569436.2_Missense_Mutation_p.A122T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A122T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	122					protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GTTCAGGCTCGCCCTGCACAA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20536	0.0		0.001	False		,,,				2504	0.0					ENST00000219169.4																			0				kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(364-366)Gcc>Acc		nuclear transport factor 2							102.0	86.0	91.0					16																	67904796		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67904796G>A	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.364G>A	16.37:g.67904796G>A	ENSP00000219169:p.Ala122Thr					NUTF2_ENST00000568396.2_Missense_Mutation_p.A122T|NUTF2_ENST00000569436.2_Missense_Mutation_p.A122T|CTC-479C5.16_ENST00000587481.1_RNA	p.A122T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	5	647	+		Ovarian(137;0.0563)	122					B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.364G>A	CCDS10848.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.7	4.031459	0.75504	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.35	5.35	0.76521	.	0.053987	0.64402	D	0.000001	T	0.61751	0.2372	M	0.82323	2.585	0.80722	D	1	B	0.33583	0.418	B	0.18561	0.022	T	0.63712	-0.6575	9	0.14252	T	0.57	-33.3308	18.6568	0.91456	0.0:0.0:1.0:0.0	.	122	P61970	NTF2_HUMAN	T	122	.	ENSP00000219169:A122T	A	+	1	0	NUTF2	66462297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.263000	0.72521	2.500000	0.84329	0.655000	0.94253	GCC		0.517	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			13	241	0	0	0	1	0	13	241				
MOXD1	26002	broad.mit.edu	37	6	132649632	132649632	+	Silent	SNP	G	G	A	rs145443994		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:132649632G>A	ENST00000367963.3	-	5	883	c.765C>T	c.(763-765)caC>caT	p.H255H	MOXD1_ENST00000336749.3_Silent_p.H187H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	255						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GATAGCACTCGTGGCCGGACT	0.517																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(763-765)caC>caT		monooxygenase, DBH-like 1		G		1,4405	2.1+/-5.4	0,1,2202	169.0	143.0	152.0		765	-5.9	0.5	6	dbSNP_134	152	0,8600		0,0,4300	no	coding-synonymous	MOXD1	NM_015529.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		255/614	132649632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132649632G>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.765C>T	6.37:g.132649632G>A						MOXD1_ENST00000336749.3_Silent_p.H187H	p.H255H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	5	883	-	Breast(56;0.0495)		255					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.765C>T	CCDS5152.2																																																																																				0.517	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		10	233	0	0	0	1	0	10	233				
MCM2	4171	broad.mit.edu	37	3	127325138	127325138	+	Missense_Mutation	SNP	G	G	A	rs148533176		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:127325138G>A	ENST00000265056.7	+	5	1095	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	284					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						ATCCATGTCCGCATCTCCCAC	0.632																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(850-852)cGc>cAc		minichromosome maintenance complex component 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	156.0	126.0	136.0		851	5.1	1.0	3	dbSNP_134	136	0,8600		0,0,4300	no	missense	MCM2	NM_004526.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	284/905	127325138	1,13005	2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127325138G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.851G>A	3.37:g.127325138G>A	ENSP00000265056:p.Arg284His						p.R284H	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			5	1095	+			284					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.851G>A	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404519|4.404519	0.83230|0.83230	2.27E-4|2.27E-4	0.0|0.0	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.14640	.|2.49	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Nucleic acid-binding, OB-fold-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48370|0.48370	0.1496|0.1496	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.993;0.999;0.999	T|T	0.60796|0.60796	-0.7192|-0.7192	5|10	.|0.66056	.|D	.|0.02	-27.6015|-27.6015	18.5425|18.5425	0.91033|0.91033	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|265;154;284	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	T|H	147|284;188;265	.|ENSP00000265056:R284H	.|ENSP00000265056:R284H	A|R	+|+	1|2	0|0	MCM2|MCM2	128807828|128807828	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.298000|0.298000	0.27526|0.27526	9.834000|9.834000	0.99428|0.99428	2.363000|2.363000	0.80096|0.80096	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.632	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			6	481	0	0	0	1	0	6	481				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		13	317	0	0	0	1	0	13	317				
SEMA6D	80031	broad.mit.edu	37	15	48063190	48063190	+	Silent	SNP	G	G	A	rs144939945	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:48063190G>A	ENST00000316364.5	+	19	2869	c.2430G>A	c.(2428-2430)ccG>ccA	p.P810P	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Silent_p.P767P|SEMA6D_ENST00000389433.2_Silent_p.P791P|SEMA6D_ENST00000537942.1_Silent_p.P748P|SEMA6D_ENST00000389428.3_Silent_p.P735P|SEMA6D_ENST00000354744.4_Silent_p.P754P|SEMA6D_ENST00000558014.1_Silent_p.P748P|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.P748P|SEMA6D_ENST00000536845.2_Silent_p.P810P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	810					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P748P(1)|p.P810P(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTTTTTTCCGTCTAGTCCGC	0.507																																						ENST00000316364.5																			2	Substitution - coding silent(2)	p.P748P(1)|p.P810P(1)	endometrium(2)	biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2428-2430)ccG>ccA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D		A	,,,,,	1,4395	2.1+/-5.4	0,1,2197	87.0	88.0	88.0		2244,2244,2205,2262,2430,	-2.9	0.9	15	dbSNP_134	88	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	748/1012,748/1012,735/999,754/1018,810/1074,	48063190	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063190G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2430G>A	15.37:g.48063190G>A						SEMA6D_ENST00000537942.1_Silent_p.P748P|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Silent_p.P791P|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Silent_p.P754P|SEMA6D_ENST00000389432.2_Silent_p.P767P|SEMA6D_ENST00000536845.2_Silent_p.P810P|SEMA6D_ENST00000389428.3_Silent_p.P735P|SEMA6D_ENST00000558014.1_Silent_p.P748P|SEMA6D_ENST00000358066.4_Silent_p.P748P	p.P810P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2869	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	810					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.2430G>A	CCDS32225.1																																																																																				0.507	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		26	390	0	0	0	1	0	26	390				
SIRPB1	10326	broad.mit.edu	37	20	1592193	1592193	+	Intron	SNP	C	C	T	rs371465078	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:1592193C>T	ENST00000381605.4	-	1	141				SIRPB1_ENST00000279477.7_Silent_p.Q81Q|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Silent_p.Q81Q	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCTTCTTTCTGATTGTAGA	0.522													t|||	2823	0.563698	0.68	0.3876	5008	,	,		6072	0.631		0.3748	False		,,,				2504	0.6564					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(241-243)caG>caA		signal-regulatory protein beta 1							94.0	111.0	106.0					20																	1592193		447	1317	1764	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592193C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8321G>A	20.37:g.1592193C>T						SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron	p.Q81Q	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	307	-			81			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.243G>A	CCDS13019.1																																																																																				0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		10	149	0	0	0	1	0	10	149				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		5	89	0	0	0	1	0	5	89				
SPANXD	64648	broad.mit.edu	37	X	140785682	140785682	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:140785682G>C	ENST00000370515.3	-	2	567	c.234C>G	c.(232-234)aaC>aaG	p.N78K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	78						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTTGGAGGGGGTTGATTCTGT	0.448																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(232-234)aaC>aaG		SPANX family, member D							194.0	171.0	179.0					X																	140785682		2199	4273	6472	SO:0001583	missense	64648							g.chrX:140785682G>C	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.234C>G	X.37:g.140785682G>C	ENSP00000359546:p.Asn78Lys						p.N78K	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	567	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.234C>G	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	8.302	0.820191	0.16678	.	.	ENSG00000196406	ENST00000370515	T	0.09445	2.98	.	.	.	.	.	.	.	.	T	0.25457	0.0619	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.06789	-1.0807	6	0.72032	D	0.01	.	.	.	.	.	78	Q9BXN6	SPNXD_HUMAN	K	78	ENSP00000359546:N78K	ENSP00000359546:N78K	N	-	3	2	SPANXD	140613348	0.055000	0.20627	0.048000	0.18961	0.048000	0.14542	0.075000	0.14686	0.068000	0.16574	0.068000	0.15388	AAC		0.448	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			50	446	0	0	0	1	0	50	446				
CCDC110	256309	broad.mit.edu	37	4	186379493	186379493	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:186379493C>T	ENST00000307588.3	-	6	2323	c.2248G>A	c.(2248-2250)Gta>Ata	p.V750I	CCDC110_ENST00000510617.1_Missense_Mutation_p.V750I|CCDC110_ENST00000393540.3_Missense_Mutation_p.V713I|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	750						nucleus (GO:0005634)		p.V750I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGCTTCTTACGTAATTTTCT	0.284																																						ENST00000307588.3																			1	Substitution - Missense(1)	p.V750I(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(2248-2250)Gta>Ata		coiled-coil domain containing 110							59.0	58.0	58.0					4																	186379493		2203	4297	6500	SO:0001583	missense	256309					nucleus		g.chr4:186379493C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2248G>A	4.37:g.186379493C>T	ENSP00000306776:p.Val750Ile					CCDC110_ENST00000393540.3_Missense_Mutation_p.V713I|CCDC110_ENST00000510617.1_Missense_Mutation_p.V750I	p.V750I	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	2323	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	750					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.2248G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763163	0.31228	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.28895	1.59;1.59;1.59	5.54	3.55	0.40652	.	0.441395	0.19156	N	0.121335	T	0.30386	0.0763	M	0.63428	1.95	0.09310	N	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.50934	0.654;0.654;0.654	T	0.18871	-1.0323	10	0.14252	T	0.57	-6.4794	1.659	0.02787	0.2086:0.4783:0.1387:0.1745	.	750;713;750	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	I	713;750;750	ENSP00000377172:V713I;ENSP00000306776:V750I;ENSP00000427246:V750I	ENSP00000306776:V750I	V	-	1	0	CCDC110	186616487	0.025000	0.19082	0.931000	0.37212	0.983000	0.72400	0.893000	0.28336	1.471000	0.48121	0.650000	0.86243	GTA		0.284	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		4	72	0	0	0	1	0	4	72				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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		4	169	0	0	0	1	0	4	169				
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11.0	16.0	14.0					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		8	135	0	0	0	1	0	8	135				
MUC4	4585	broad.mit.edu	37	3	195481086	195481086	+	Missense_Mutation	SNP	G	G	A	rs145047205		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:195481086G>A	ENST00000346145.4	-	18	2657	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V	MUC4_ENST00000349607.4_Missense_Mutation_p.A822V|MUC4_ENST00000475231.1_Missense_Mutation_p.A5057V|MUC4_ENST00000463781.3_Missense_Mutation_p.A5109V	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1866	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGCTCACCCGCACAGTGCCG	0.617																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(15325-15327)gCg>gTg		mucin 4, cell surface associated		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	63.0	69.0	67.0		2618,15326,2465	3.8	1.0	3	dbSNP_134	67	1,8599		0,1,4299	yes	missense,missense,missense	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	873/1177,5109/5413,822/1126	195481086	1,13005	2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195481086G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2618C>T	3.37:g.195481086G>A	ENSP00000304207:p.Ala873Val					MUC4_ENST00000349607.4_Missense_Mutation_p.A822V|MUC4_ENST00000346145.4_Missense_Mutation_p.A873V|MUC4_ENST00000475231.1_Missense_Mutation_p.A5057V	p.A5109V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	19	15785	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1866					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.15326C>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.569346	0.28003	0.0	1.16E-4	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38401	1.14;1.5;1.43;1.46	4.69	3.8	0.43715	.	0.118165	0.37715	N	0.001962	T	0.25382	0.0617	L	0.35288	1.05	0.24930	N	0.991925	P;P;P;P;P;D	0.53885	0.89;0.605;0.605;0.754;0.754;0.963	B;B;B;B;B;B	0.42386	0.254;0.095;0.095;0.108;0.108;0.386	T	0.09250	-1.0683	10	0.15952	T	0.53	-6.024	10.5605	0.45142	0.0935:0.0:0.9065:0.0	.	4981;822;873;5109;5057;1814	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	V	822;873;5109;5057;1609	ENSP00000338109:A822V;ENSP00000304207:A873V;ENSP00000417498:A5109V;ENSP00000420243:A5057V	ENSP00000304207:A873V	A	-	2	0	MUC4	196966757	0.999000	0.42202	0.981000	0.43875	0.050000	0.14768	3.049000	0.49869	1.070000	0.40811	0.443000	0.29094	GCG		0.617	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		7	489	0	0	0	1	0	7	489				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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		5	165	0	0	0	1	0	5	165				
COL4A1	1282	broad.mit.edu	37	13	110857876	110857876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:110857876C>T	ENST00000375820.4	-	16	989	c.868G>A	c.(868-870)Gga>Aga	p.G290R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G290R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	290	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCATCTTTTCCGGGTTTGCCC	0.473																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(868-870)Gga>Aga		collagen, type IV, alpha 1							127.0	147.0	140.0					13																	110857876		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857876C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.868G>A	13.37:g.110857876C>T	ENSP00000364979:p.Gly290Arg					COL4A1_ENST00000543140.1_Missense_Mutation_p.G290R	p.G290R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		16	989	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	290			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.868G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460326	0.43736	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99353	-5.77;-5.77	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97186	0.9854	10	0.87932	D	0	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	290	P02462	CO4A1_HUMAN	R	279;290;290;290	ENSP00000364979:G290R;ENSP00000443348:G290R	ENSP00000364973:G279R	G	-	1	0	COL4A1	109655877	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	6.226000	0.72277	2.280000	0.76307	0.551000	0.68910	GGA		0.473	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	594	0	0	0	1	0	9	594				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	215	0	0	0	1	0	7	215				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A353P(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1057-1059)Gca>Cca		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P	p.A353P			Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	312	0	0	0	1	0	5	312				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	273	0	0	0	1	0	6	273				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	117	0	0	0	1	0	4	117				
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr18:15323347T>C	ENST00000455308.2	-	0	501				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303																																						ENST00000455308.2																			0																																																			0							g.chr18:15323347T>C																													18.37:g.15323347T>C								NR_027417.1						0	501	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.303	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			6	27	0	0	0	1	0	6	27				
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A	rs374587723		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:71249558T>A	ENST00000398534.3	+	1	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(457-459)Tgc>Agc		keratin associated protein 5-8							176.0	180.0	178.0					11																	71249558		2200	4294	6494	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249558T>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.457T>A	11.37:g.71249558T>A	ENSP00000420723:p.Cys153Ser						p.C153S	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	488	+			153			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.457T>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	12.36	1.913624	0.33815	.	.	ENSG00000241233	ENST00000398534	T	0.01767	4.65	1.63	0.358	0.16084	.	.	.	.	.	T	0.04003	0.0112	M	0.90252	3.1	0.24313	N	0.995073	B	0.02656	0.0	B	0.06405	0.002	T	0.27434	-1.0074	9	0.52906	T	0.07	.	4.9425	0.13973	0.2691:0.0:0.0:0.7308	.	153	O75690	KRA58_HUMAN	S	153	ENSP00000420723:C153S	ENSP00000420723:C153S	C	+	1	0	KRTAP5-8	70927206	0.006000	0.16342	0.812000	0.32479	0.182000	0.23217	0.150000	0.16263	0.076000	0.16826	0.459000	0.35465	TGC		0.602	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		9	995	0	0	0	1	0	9	995				
VPS13B	157680	broad.mit.edu	37	8	100833605	100833605	+	Silent	SNP	A	A	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:100833605A>T	ENST00000358544.2	+	50	9264	c.9153A>T	c.(9151-9153)acA>acT	p.T3051T	VPS13B_ENST00000357162.2_Silent_p.T3026T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3051					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAACCTGACATCTCCAAAGT	0.398																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(9151-9153)acA>acT		vacuolar protein sorting 13 homolog B (yeast)							212.0	200.0	204.0					8																	100833605		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100833605A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9153A>T	8.37:g.100833605A>T						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.T3026T	p.T3051T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		50	9264	+	Breast(36;3.73e-07)		3051					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.9153A>T	CCDS6280.1																																																																																				0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		5	355	0	0	0	1	0	5	355				
EPS8L2	64787	broad.mit.edu	37	11	722406	722406	+	Silent	SNP	C	C	T	rs146372566		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:722406C>T	ENST00000533256.1	+	14	1440	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	EPS8L2_ENST00000318562.8_Silent_p.V355V|EPS8L2_ENST00000530636.1_Silent_p.V355V|EPS8L2_ENST00000526198.1_Silent_p.V371V|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	355					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGATCGTCAACACCTGCA	0.657																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1063-1065)gtC>gtT		EPS8-like 2				1,4405	2.1+/-5.4	0,1,2202	82.0	73.0	76.0		1065	1.0	1.0	11	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	EPS8L2	NM_022772.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		355/716	722406	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:722406C>T	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1065C>T	11.37:g.722406C>T						EPS8L2_ENST00000526198.1_Silent_p.V371V|EPS8L2_ENST00000318562.8_Silent_p.V355V|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.V355V	p.V355V			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1440	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	355					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.1065C>T	CCDS31328.1																																																																																				0.657	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		19	227	0	0	0	1	0	19	227				
SORCS2	57537	broad.mit.edu	37	4	7716916	7716916	+	Silent	SNP	C	C	T	rs376351462		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:7716916C>T	ENST00000507866.2	+	17	2239	c.2130C>T	c.(2128-2130)taC>taT	p.Y710Y	SORCS2_ENST00000329016.9_Silent_p.Y538Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	710					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGCGACTACGGATTTGAGC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		12097	0.001		0.0	False		,,,				2504	0.0					ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2128-2130)taC>taT		sortilin-related VPS10 domain containing receptor 2		C		2,4028		0,2,2013	149.0	155.0	153.0		2130	0.4	1.0	4		153	0,8326		0,0,4163	no	coding-synonymous	SORCS2	NM_020777.2		0,2,6176	TT,TC,CC		0.0,0.0496,0.0162		710/1160	7716916	2,12354	2015	4163	6178	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7716916C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2130C>T	4.37:g.7716916C>T						SORCS2_ENST00000329016.9_Silent_p.Y538Y	p.Y710Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			17	2239	+			710					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.2130C>T	CCDS47008.1																																																																																				0.597	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		43	455	0	0	0	1	0	43	455				
C1orf122	127687	broad.mit.edu	37	1	38274791	38274791	+	3'UTR	SNP	G	G	A	rs540848643		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:38274791G>A	ENST00000373042.4	+	0	638				C1orf122_ENST00000373043.1_3'UTR|YRDC_ENST00000373044.2_5'Flank|C1orf122_ENST00000468084.1_3'UTR|C1orf122_ENST00000446260.2_Silent_p.P155P			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122											kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				CCCCAGGGCCGGTGGCTGGAC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15472	0.0		0.0	False		,,,				2504	0.0					ENST00000446260.2																			0				kidney(2)|lung(2)	4						c.(463-465)ccG>ccA		chromosome 1 open reading frame 122							58.0	59.0	59.0					1																	38274791		2203	4300	6503	SO:0001624	3_prime_UTR_variant	127687							g.chr1:38274791G>A	AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.*46G>A	1.37:g.38274791G>A						C1orf122_ENST00000373043.1_3'UTR|C1orf122_ENST00000468084.1_3'UTR|C1orf122_ENST00000373042.4_3'UTR|C1orf122_ENST00000525096.2_3'UTR	p.P155P			Q6ZSJ8	CA122_HUMAN			2	465	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)	0					A2RQF4|E9PQ13|Q56A71	Silent	SNP	ENST00000373042.4	37	c.465G>A	CCDS427.2																																																																																				0.617	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012471.2	NM_198446		5	434	0	0	0	1	0	5	434				
NAF1	92345	broad.mit.edu	37	4	164050411	164050411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:164050411G>A	ENST00000274054.2	-	8	1316	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	375					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAAATCCTCGTGTGAATTCT	0.448																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1123-1125)Cga>Tga		nuclear assembly factor 1 ribonucleoprotein							105.0	111.0	109.0					4																	164050411		2203	4300	6503	SO:0001587	stop_gained	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050411G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1123C>T	4.37:g.164050411G>A	ENSP00000274054:p.Arg375*					NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.R375*	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1316	-	all_hematologic(180;0.166)	Prostate(90;0.109)	375					D3DP28|E9PAZ2	Nonsense_Mutation	SNP	ENST00000274054.2	37	c.1123C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808836	0.50421	.	.	ENSG00000145414	ENST00000274054	.	.	.	4.71	-1.19	0.09585	.	0.519016	0.17234	N	0.181810	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-2.034	3.5873	0.07975	0.0796:0.3444:0.2622:0.3139	.	.	.	.	X	375	.	ENSP00000274054:R375X	R	-	1	2	NAF1	164269861	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	-0.399000	0.07668	-0.218000	0.12543	CGA		0.448	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		8	248	0	0	0	1	0	8	248				
PSMB4	5692	broad.mit.edu	37	1	151372521	151372521	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:151372521G>A	ENST00000290541.6	+	2	259	c.205G>A	c.(205-207)Gca>Aca	p.A69T		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	69					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 inflammatory response to antigenic stimulus (GO:0002862)|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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGATTGCCGCAGACATGCT	0.582																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(205-207)Gca>Aca		proteasome (prosome, macropain) subunit, beta type, 4							124.0	124.0	124.0					1																	151372521		2203	4300	6503	SO:0001583	missense	5692				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|interspecies interaction between organisms|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|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372521G>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.205G>A	1.37:g.151372521G>A	ENSP00000290541:p.Ala69Thr						p.A69T	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	259	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		69					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.205G>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	37	6.114497	0.97296	.	.	ENSG00000159377	ENST00000290541	T	0.41758	0.99	5.34	5.34	0.76211	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70487	0.969;0.846	T	0.59899	-0.7367	10	0.66056	D	0.02	-10.9451	17.6208	0.88080	0.0:0.0:1.0:0.0	.	69;69	B4DFL3;P28070	.;PSB4_HUMAN	T	69	ENSP00000290541:A69T	ENSP00000290541:A69T	A	+	1	0	PSMB4	149639145	1.000000	0.71417	0.881000	0.34555	0.995000	0.86356	9.355000	0.97087	2.502000	0.84385	0.561000	0.74099	GCA		0.582	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		5	524	0	0	0	1	0	5	524				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	p.R196*	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	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	173	0	0	0	1	0	15	173				
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115.0	112.0	113.0					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	373	0	0	0	1	0	5	373				
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:52394736T>C	ENST00000354957.3	-	5	937	c.653A>G	c.(652-654)aAg>aGg	p.K218R	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Splice_Site_p.K218R	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACTTCTTGTAGAA	0.483																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(652-654)aAg>aGg		zinc finger protein 649							119.0	114.0	116.0					19																	52394736		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394736T>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.653A>G	19.37:g.52394736T>C	ENSP00000347043:p.Lys218Arg					ZNF649_ENST00000600738.1_Splice_Site_p.K218_splice|CTC-429C10.2_ENST00000600329.1_RNA	p.K218R	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	937	-		all_neural(266;0.0602)	218					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.653A>G	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278977	0.23307	.	.	ENSG00000198093	ENST00000354957	T	0.15834	2.39	2.61	0.223	0.15292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09818	0.0241	N	0.21583	0.68	0.09310	N	1	B	0.23185	0.081	B	0.15484	0.013	T	0.33059	-0.9883	9	0.31617	T	0.26	.	6.6154	0.22774	0.0:0.2836:0.0:0.7164	.	218	Q9BS31	ZN649_HUMAN	R	218	ENSP00000347043:K218R	ENSP00000347043:K218R	K	-	2	0	ZNF649	57086548	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.478000	0.06575	0.157000	0.19338	0.327000	0.21459	AAG		0.483	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		4	371	0	0	0	1	0	4	371				
SASH1	23328	broad.mit.edu	37	6	148853965	148853965	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:148853965A>G	ENST00000367467.3	+	14	2072	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	533					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGATTCCTCAACCAGCAACCG	0.557																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1597-1599)Acc>Gcc		SAM and SH3 domain containing 1							98.0	99.0	99.0					6																	148853965		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148853965A>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1597A>G	6.37:g.148853965A>G	ENSP00000356437:p.Thr533Ala						p.T533A	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	14	2072	+		Ovarian(120;0.0169)	533					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1597A>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	6.118	0.389937	0.11581	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.42131	0.98	5.27	2.89	0.33648	.	0.166954	0.56097	N	0.000035	T	0.07683	0.0193	N	0.11427	0.14	0.29013	N	0.886778	B;B	0.21309	0.054;0.004	B;B	0.20955	0.032;0.017	T	0.38735	-0.9647	10	0.17369	T	0.5	-14.7724	9.7654	0.40557	0.7217:0.0:0.2783:0.0	.	514;533	Q6P4R9;O94885	.;SASH1_HUMAN	A	533;294	ENSP00000356437:T533A	ENSP00000356437:T533A	T	+	1	0	SASH1	148895658	0.976000	0.34144	0.893000	0.35052	0.867000	0.49689	1.935000	0.40173	0.039000	0.15632	-1.139000	0.01908	ACC		0.557	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		9	304	0	0	0	1	0	9	304				
TGM6	343641	broad.mit.edu	37	20	2397961	2397961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:2397961C>T	ENST00000202625.2	+	10	1481	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TGM6_ENST00000381423.1_Missense_Mutation_p.R474C	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	474					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AATCTGGATCCGCAGGGCTGG	0.622																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1420-1422)Cgc>Tgc		transglutaminase 6	L-Glutamine(DB00130)						40.0	33.0	35.0					20																	2397961		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2397961C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1420C>T	20.37:g.2397961C>T	ENSP00000202625:p.Arg474Cys					TGM6_ENST00000381423.1_Missense_Mutation_p.R474C	p.R474C	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			10	1481	+			474					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1420C>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542366	0.45280	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.80909	-1.27;-1.43	4.54	4.54	0.55810	.	0.768164	0.11873	N	0.521286	D	0.82527	0.5056	L	0.47716	1.5	0.31804	N	0.62801	D;D	0.69078	0.997;0.991	P;B	0.53861	0.736;0.332	T	0.82133	-0.0608	10	0.56958	D	0.05	-9.2741	12.6614	0.56815	0.0:1.0:0.0:0.0	.	474;474	O95932-2;O95932	.;TGM3L_HUMAN	C	474	ENSP00000202625:R474C;ENSP00000370831:R474C	ENSP00000202625:R474C	R	+	1	0	TGM6	2345961	0.187000	0.23238	0.123000	0.21794	0.315000	0.28087	4.094000	0.57721	2.368000	0.80403	0.563000	0.77884	CGC		0.622	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		6	82	0	0	0	1	0	6	82				
HSP90AB1	3326	broad.mit.edu	37	6	44217832	44217832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:44217832C>T	ENST00000371554.1	+	5	803	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	197					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAAGAGAGGCGGGTCAAAGA	0.433																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(589-591)Cgg>Tgg		heat shock protein 90kDa alpha (cytosolic), class B member 1							101.0	105.0	104.0					6																	44217832		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217832C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.589C>T	6.37:g.44217832C>T	ENSP00000360609:p.Arg197Trp					HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W	p.R197W			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	803	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		197					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.589C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774006	0.69992	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.11821	2.74;2.74;2.74	4.49	2.63	0.31362	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000002	T	0.08088	0.0202	N	0.11255	0.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.957;0.988;0.991	T	0.22487	-1.0215	10	0.87932	D	0	-12.2293	6.6825	0.23127	0.1472:0.6922:0.0:0.1606	.	159;187;197	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	W	149;197;197;197	ENSP00000360709:R197W;ENSP00000325875:R197W;ENSP00000360609:R197W	ENSP00000325875:R197W	R	+	1	2	HSP90AB1	44325810	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.169000	0.31871	0.305000	0.22832	0.557000	0.71058	CGG		0.433	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		5	279	0	0	0	1	0	5	279				
POLR3B	55703	broad.mit.edu	37	12	106824112	106824112	+	Missense_Mutation	SNP	G	G	C	rs201153027		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:106824112G>C	ENST00000228347.4	+	14	1547	c.1325G>C	c.(1324-1326)cGc>cCc	p.R442P	POLR3B_ENST00000539066.1_Missense_Mutation_p.R384P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	442					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)			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						GTGCTGTCTCGCTTGTCATAT	0.453																																						ENST00000228347.4																			0				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.(1324-1326)cGc>cCc		polymerase (RNA) III (DNA directed) polypeptide B							118.0	121.0	120.0					12																	106824112		2203	4300	6503	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.chr12:106824112G>C	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.1325G>C	12.37:g.106824112G>C	ENSP00000228347:p.Arg442Pro					POLR3B_ENST00000539066.1_Missense_Mutation_p.R384P	p.R442P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			14	1547	+			442					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1325G>C	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099309	0.94197	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.80480	-1.38;-1.38	5.71	5.71	0.89125	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95590	0.8654	10	0.87932	D	0	-13.9996	19.8449	0.96704	0.0:0.0:1.0:0.0	.	442	Q9NW08	RPC2_HUMAN	P	442;442;384	ENSP00000228347:R442P;ENSP00000445721:R384P	ENSP00000228347:R442P	R	+	2	0	POLR3B	105348242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.680000	0.91292	0.655000	0.94253	CGC		0.453	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		5	451	0	0	0	1	0	5	451				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						ENST00000568624.1																			0																																																			0							g.chr15:28599954A>G																													15.37:g.28599954A>G														0	452	-									RNA	SNP	ENST00000568624.1	37																																																																																						0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			4	262	0	0	0	1	0	4	262				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		18	95	0	0	0	1	0	18	95				
ADAMTS15	170689	broad.mit.edu	37	11	130319167	130319167	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:130319167G>A	ENST00000299164.2	+	1	299	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	100						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GACCTGCGACGCTGCTTCTAT	0.677																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(298-300)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							41.0	49.0	46.0					11																	130319167		2198	4295	6493	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130319167G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.299G>A	11.37:g.130319167G>A	ENSP00000299164:p.Arg100His						p.R100H	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	1	299	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	100					Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.299G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	9.717	1.158526	0.21454	.	.	ENSG00000166106	ENST00000299164	T	0.04551	3.6	4.63	3.69	0.42338	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.02047	0.0064	N	0.03154	-0.405	0.22096	N	0.999367	B	0.19817	0.039	B	0.16722	0.016	T	0.47598	-0.9105	9	0.17369	T	0.5	.	4.0747	0.09899	0.2047:0.2129:0.5824:0.0	.	100	Q8TE58	ATS15_HUMAN	H	100	ENSP00000299164:R100H	ENSP00000299164:R100H	R	+	2	0	ADAMTS15	129824377	0.077000	0.21312	0.717000	0.30585	0.993000	0.82548	0.552000	0.23376	1.245000	0.43885	0.561000	0.74099	CGC		0.677	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		45	382	0	0	0	1	0	45	382				
RGPD4	285190	broad.mit.edu	37	2	108475980	108475980	+	Missense_Mutation	SNP	C	C	T	rs551635252	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:108475980C>T	ENST00000408999.3	+	11	1681	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	RGPD4_ENST00000354986.4_Missense_Mutation_p.A535V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	535					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGTGGGATGCGGTTTGTACT	0.403													N|||	2	0.000399361	0.0008	0.0014	5008	,	,		17352	0.0		0.0	False		,,,				2504	0.0					ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(1603-1605)gCg>gTg		RANBP2-like and GRIP domain containing 4							29.0	30.0	30.0					2																	108475980		692	1590	2282	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108475980C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1604C>T	2.37:g.108475980C>T	ENSP00000386810:p.Ala535Val					RGPD4_ENST00000354986.4_Missense_Mutation_p.A535V	p.A535V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			11	1681	+			535					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1604C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	12.95	2.090060	0.36855	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.55234	0.53;0.53	2.6	2.6	0.31112	.	.	.	.	.	T	0.68522	0.3010	M	0.69823	2.125	0.35765	D	0.820443	D	0.89917	1.0	D	0.76071	0.987	T	0.77351	-0.2620	9	0.72032	D	0.01	-20.8394	11.8656	0.52490	0.0:1.0:0.0:0.0	.	535	Q7Z3J3	RGPD4_HUMAN	V	535;535;293	ENSP00000347081:A535V;ENSP00000386810:A535V	ENSP00000347081:A535V	A	+	2	0	RGPD4	107842412	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	6.722000	0.74735	1.299000	0.44798	0.152000	0.16155	GCG		0.403	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		5	603	0	0	0	1	0	5	603				
ANKRD30A	91074	broad.mit.edu	37	10	37431019	37431019	+	Silent	SNP	C	C	T	rs199969776		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:37431019C>T	ENST00000602533.1	+	7	1125	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	ANKRD30A_ENST00000361713.1_Silent_p.P342P|ANKRD30A_ENST00000374660.1_Silent_p.P342P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	398					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTATGAGTCCCGCAAAAGAAA	0.433																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1024-1026)ccC>ccT		ankyrin repeat domain 30A							107.0	105.0	106.0					10																	37431019		1830	4085	5915	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431019C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1026C>T	10.37:g.37431019C>T						ANKRD30A_ENST00000602533.1_Silent_p.P342P|ANKRD30A_ENST00000361713.1_Silent_p.P342P	p.P342P			Q9BXX3	AN30A_HUMAN			7	1125	+			398					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1026C>T																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	337	0	0	0	1	0	5	337				
RFTN2	130132	broad.mit.edu	37	2	198498522	198498522	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:198498522T>C	ENST00000295049.4	-	4	1174	c.638A>G	c.(637-639)gAa>gGa	p.E213G		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	213					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATGAAGTTCTTCCTCAATTCC	0.408																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(637-639)gAa>gGa		raftlin family member 2							236.0	211.0	220.0					2																	198498522		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198498522T>C	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.638A>G	2.37:g.198498522T>C	ENSP00000295049:p.Glu213Gly						p.E213G	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			4	1174	-			213					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.638A>G	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.387682	0.61956	.	.	ENSG00000162944	ENST00000295049	T	0.33865	1.39	5.27	2.9	0.33743	.	2.309500	0.01453	N	0.015562	T	0.39462	0.1079	L	0.57536	1.79	0.34698	D	0.72643	B	0.17268	0.021	B	0.15484	0.013	T	0.33548	-0.9864	10	0.48119	T	0.1	-12.8873	8.1485	0.31126	0.0:0.1588:0.0:0.8412	.	213	Q52LD8	RFTN2_HUMAN	G	213	ENSP00000295049:E213G	ENSP00000295049:E213G	E	-	2	0	RFTN2	198206767	1.000000	0.71417	0.431000	0.26735	0.956000	0.61745	2.615000	0.46368	0.945000	0.37605	0.533000	0.62120	GAA		0.408	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		27	315	0	0	0	1	0	27	315				
EFTUD1	79631	broad.mit.edu	37	15	82530841	82530841	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:82530841G>A	ENST00000268206.7	-	7	706	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	EFTUD1_ENST00000359445.3_Missense_Mutation_p.L129F	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	180	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGTAAAAAGAGTCCCTGTG	0.453																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(538-540)Ctt>Ttt		elongation factor Tu GTP binding domain containing 1							38.0	33.0	35.0					15																	82530841		1820	4071	5891	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82530841G>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.538C>T	15.37:g.82530841G>A	ENSP00000268206:p.Leu180Phe					EFTUD1_ENST00000359445.3_Missense_Mutation_p.L129F	p.L180F	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			7	706	-			180					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.538C>T	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320203	0.41096	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.77229	-1.08;-1.08	4.49	4.49	0.54785	Protein synthesis factor, GTP-binding (1);	0.000000	0.47093	U	0.000251	T	0.81706	0.4879	L	0.38692	1.165	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.76184	-0.3052	10	0.13470	T	0.59	-0.0792	17.7897	0.88548	0.0:0.0:1.0:0.0	.	129;180	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	F	180;129	ENSP00000268206:L180F;ENSP00000352418:L129F	ENSP00000268206:L180F	L	-	1	0	EFTUD1	80317896	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.644000	0.61397	2.501000	0.84356	0.405000	0.27470	CTT		0.453	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		8	93	0	0	0	1	0	8	93				
STAG3	10734	broad.mit.edu	37	7	99780445	99780445	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:99780445G>A	ENST00000426455.1	+	4	726	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	107					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAAGCCGCCAAAAGTGA	0.463																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(319-321)Gcc>Acc		stromal antigen 3							242.0	238.0	239.0					7																	99780445		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99780445G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.319G>A	7.37:g.99780445G>A	ENSP00000400359:p.Ala107Thr					STAG3_ENST00000317296.5_Missense_Mutation_p.A107T|STAG3_ENST00000394018.2_Missense_Mutation_p.A107T	p.A107T			Q9UJ98	STAG3_HUMAN			4	726	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		107					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.319G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112214	0.77210	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.28069	1.93;1.63;1.93	5.32	5.32	0.75619	.	0.000000	0.43919	D	0.000512	T	0.52869	0.1761	M	0.68952	2.095	0.42720	D	0.993672	D;B	0.89917	1.0;0.32	D;B	0.64506	0.926;0.056	T	0.54860	-0.8230	10	0.87932	D	0	-15.4632	16.5495	0.84470	0.0:0.0:1.0:0.0	.	107;107	B4DZ10;Q9UJ98	.;STAG3_HUMAN	T	107	ENSP00000400359:A107T;ENSP00000377586:A107T;ENSP00000319318:A107T	ENSP00000319318:A107T	A	+	1	0	STAG3	99618381	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.209000	0.72171	2.773000	0.95371	0.585000	0.79938	GCC		0.463	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		6	752	0	0	0	1	0	6	752				
OR13D1	286365	broad.mit.edu	37	9	107456958	107456958	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:107456958C>T	ENST00000318763.5	+	1	299	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTTGGATTCTCGCCTCCATAC	0.423																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(256-258)Cgc>Tgc		olfactory receptor, family 13, subfamily D, member 1							239.0	240.0	240.0					9																	107456958		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456958C>T		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.256C>T	9.37:g.107456958C>T	ENSP00000317357:p.Arg86Cys						p.R86C	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	299	+			86					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.256C>T	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	1.682	-0.506177	0.04231	.	.	ENSG00000179055	ENST00000318763	T	0.00588	6.37	3.75	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.261494	0.27526	N	0.018973	T	0.00754	0.0025	M	0.74258	2.255	0.09310	N	1	B	0.33919	0.432	B	0.32724	0.151	T	0.46373	-0.9196	10	0.56958	D	0.05	.	4.236	0.10625	0.2246:0.6517:0.0:0.1237	.	86	Q8NGV5	O13D1_HUMAN	C	86	ENSP00000317357:R86C	ENSP00000317357:R86C	R	+	1	0	OR13D1	106496779	0.000000	0.05858	0.052000	0.19188	0.014000	0.08584	-1.829000	0.01701	0.237000	0.21200	0.609000	0.83330	CGC		0.423	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			7	755	0	0	0	1	0	7	755				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			6	298	0	0	0	1	0	6	298				
RTF1	23168	broad.mit.edu	37	15	41763442	41763442	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458																																						ENST00000389629.4																			1	Substitution - coding silent(1)	p.R241R(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1096-1098)cgG>cgA		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							164.0	155.0	158.0					15																	41763442		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41763442G>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1098G>A	15.37:g.41763442G>A							p.R366R	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	8	1110	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	366			Plus3.		Q96BX6	Silent	SNP	ENST00000389629.4	37	c.1098G>A	CCDS32200.2																																																																																				0.458	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		5	473	0	0	0	1	0	5	473				
PPL	5493	broad.mit.edu	37	16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1179					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGGTCTGGCCGCACGATCTCC	0.627																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3535-3537)Cgg>Tgg		periplakin							107.0	97.0	100.0					16																	4935121		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935121G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3535C>T	16.37:g.4935121G>A	ENSP00000340510:p.Arg1179Trp					PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	p.R1179W	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3624	-			1179					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3535C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222315	0.79464	.	.	ENSG00000118898	ENST00000345988	T	0.56941	0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76473	-0.2946	10	0.87932	D	0	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1179	O60437	PEPL_HUMAN	W	1179	ENSP00000340510:R1179W	ENSP00000340510:R1179W	R	-	1	2	PPL	4875122	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.493000	0.66899	2.677000	0.91161	0.561000	0.74099	CGG		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		6	471	0	0	0	1	0	6	471				
PRB3	5544	broad.mit.edu	37	12	11420862	11420862	+	Silent	SNP	T	T	G	rs201524640		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:11420862T>G	ENST00000279573.7	-	3	456	c.321A>C	c.(319-321)ggA>ggC	p.G107G	PRB3_ENST00000381842.3_Silent_p.G107G|PRB3_ENST00000538488.1_Silent_p.G107G|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3																																				SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420862T>G			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.321A>C	12.37:g.11420862T>G						PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	358	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		8	1352	0	0	0	1	0	8	1352				
MLLT3	4300	broad.mit.edu	37	9	20414337	20414337	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:20414337G>A	ENST00000380338.4	-	5	793	c.507C>T	c.(505-507)agC>agT	p.S169S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S166S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	169	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)				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)		tgctgctgctgctgctactgc	0.542			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		0				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.(505-507)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	14.0					9																	20414337		1704	3497	5201	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414337G>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.507C>T	9.37:g.20414337G>A						MLLT3_ENST00000429426.2_Silent_p.S166S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S169S	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	793	-			169			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.507C>T	CCDS6494.1																																																																																				0.542	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	180	0	0	0	1	0	5	180				
FAT3	120114	broad.mit.edu	37	11	92523233	92523233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:92523233G>A	ENST00000298047.6	+	7	4477	c.4460G>A	c.(4459-4461)aGa>aAa	p.R1487K	FAT3_ENST00000409404.2_Missense_Mutation_p.R1487K|FAT3_ENST00000525166.1_Missense_Mutation_p.R1337K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1487	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCACAGATAGAGATGAGAAG	0.473										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4459-4461)aGa>aAa		FAT atypical cadherin 3							188.0	182.0	184.0					11																	92523233		2084	4228	6312	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523233G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4460G>A	11.37:g.92523233G>A	ENSP00000298047:p.Arg1487Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.R1487K|FAT3_ENST00000525166.1_Missense_Mutation_p.R1337K	p.R1487K			Q8TDW7	FAT3_HUMAN			7	4477	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1487			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4460G>A		.	.	.	.	.	.	.	.	.	.	G	12.62	1.991286	0.35131	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01685	4.69;4.69;4.69	6.17	5.27	0.74061	.	.	.	.	.	T	0.01189	0.0039	N	0.11927	0.2	0.80722	D	1	B	0.21753	0.06	B	0.19666	0.026	T	0.41893	-0.9483	9	0.02654	T	1	.	11.64	0.51227	0.1347:0.0:0.8653:0.0	.	1487	Q8TDW7-3	.	K	1487;1487;1337	ENSP00000298047:R1487K;ENSP00000387040:R1487K;ENSP00000432586:R1337K	ENSP00000298047:R1487K	R	+	2	0	FAT3	92162881	1.000000	0.71417	0.562000	0.28370	0.866000	0.49608	4.904000	0.63279	1.636000	0.50526	0.655000	0.94253	AGA		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		40	403	0	0	0	1	0	40	403				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	142	1	0	0.0215528	1	0.0218878	6	142				
SYNE1	23345	broad.mit.edu	37	6	152457816	152457816	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:152457816G>A	ENST00000367255.5	-	141	26197	c.25596C>T	c.(25594-25596)gaC>gaT	p.D8532D	SYNE1_ENST00000539504.1_Silent_p.D687D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Silent_p.D8484D|SYNE1_ENST00000265368.4_Silent_p.D8532D|SYNE1_ENST00000448038.1_Silent_p.D8484D|SYNE1_ENST00000341594.5_Silent_p.D8144D|SYNE1_ENST00000356820.4_Silent_p.D3056D|SYNE1_ENST00000354674.4_Silent_p.D710D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8532					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCACACTCGGTCCCAGCGCC	0.612										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25594-25596)gaC>gaT		spectrin repeat containing, nuclear envelope 1							68.0	63.0	65.0					6																	152457816		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152457816G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25596C>T	6.37:g.152457816G>A		HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Silent_p.D710D|SYNE1_ENST00000356820.4_Silent_p.D3056D|SYNE1_ENST00000448038.1_Silent_p.D8484D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Silent_p.D687D|SYNE1_ENST00000265368.4_Silent_p.D8532D|SYNE1_ENST00000341594.5_Silent_p.D8144D|SYNE1_ENST00000423061.1_Silent_p.D8484D	p.D8532D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	141	26197	-		Ovarian(120;0.0955)	8532					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.25596C>T	CCDS5236.2																																																																																				0.612	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	264	0	0	0	1	0	5	264				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	0							g.chr20:29625905T>C			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.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	384	0	0	0	1	0	9	384				
CSMD2	114784	broad.mit.edu	37	1	34011733	34011733	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:34011733G>A	ENST00000373381.4	-	57	9180	c.9004C>T	c.(9004-9006)Cgc>Tgc	p.R3002C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2975	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGCTGAAGCGCATCACAGTG	0.612																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9004-9006)Cgc>Tgc		CUB and Sushi multiple domains 2							75.0	66.0	69.0					1																	34011733		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34011733G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9004C>T	1.37:g.34011733G>A	ENSP00000362479:p.Arg3002Cys						p.R3002C	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			57	9180	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2975			Sushi 22.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9004C>T		.	.	.	.	.	.	.	.	.	.	G	19.58	3.854909	0.71719	.	.	ENSG00000121904	ENST00000373381	T	0.66815	-0.23	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.213233	0.38217	N	0.001762	D	0.84005	0.5377	M	0.93678	3.445	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.70487	0.832;0.969	D	0.85887	0.1426	10	0.48119	T	0.1	.	10.9638	0.47399	0.0:0.0:0.7096:0.2904	.	2858;3002	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	3002	ENSP00000362479:R3002C	ENSP00000241312:R2858C	R	-	1	0	CSMD2	33784320	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	3.711000	0.54868	2.591000	0.87537	0.650000	0.86243	CGC		0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		21	192	0	0	0	1	0	21	192				
KLC2	64837	broad.mit.edu	37	11	66029444	66029444	+	Splice_Site	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:66029444G>A	ENST00000417856.1	+	3	702		c.e3+1		RP11-867G23.1_ENST00000530805.1_RNA|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394065.2_Splice_Site|KLC2_ENST00000316924.5_Splice_Site|KLC2_ENST00000394067.2_Splice_Site|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394078.1_Splice_Site	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCCCCTAACGTGAGCTCCTA	0.632																																						ENST00000394065.2																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.e1+1		kinesin light chain 2							64.0	48.0	53.0					11																	66029444		2200	4295	6495	SO:0001630	splice_region_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66029444G>A	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.459+1G>A	11.37:g.66029444G>A						KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Splice_Site|KLC2_ENST00000316924.5_Splice_Site|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000417856.1_Splice_Site|KLC2_ENST00000394078.1_Splice_Site				Q9H0B6	KLC2_HUMAN			1	1060	+								A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Splice_Site	SNP	ENST00000417856.1	37		CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461432	0.43736	.	.	ENSG00000174996	ENST00000417856;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000394078;ENST00000475757;ENST00000394065	.	.	.	4.15	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7987	0.46476	0.0:0.1934:0.8066:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLC2	65786020	0.352000	0.24895	0.715000	0.30552	0.343000	0.28985	2.337000	0.43947	0.897000	0.36392	0.561000	0.74099	.		0.632	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822	Intron	4	132	0	0	0	1	0	4	132				
GPR128	84873	broad.mit.edu	37	3	100365497	100365497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:100365497C>T	ENST00000273352.3	+	10	1463	c.1195C>T	c.(1195-1197)Caa>Taa	p.Q399*	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Nonsense_Mutation_p.Q104*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	399	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATATGGCTGTCAAAAAGACAA	0.398																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1195-1197)Caa>Taa		G protein-coupled receptor 128							107.0	107.0	107.0					3																	100365497		2203	4300	6503	SO:0001587	stop_gained	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365497C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1195C>T	3.37:g.100365497C>T	ENSP00000273352:p.Gln399*					GPR128_ENST00000475887.1_Nonsense_Mutation_p.Q104*	p.Q399*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			10	1463	+			399			GPS.		Q14D94|Q86SQ2	Nonsense_Mutation	SNP	ENST00000273352.3	37	c.1195C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120168	0.94385	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	.	.	.	5.32	-5.99	0.02213	.	1.572660	0.03413	N	0.205109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.2344	0.00184	0.3615:0.1523:0.1933:0.293	.	.	.	.	X	399;104	.	ENSP00000273352:Q399X	Q	+	1	0	GPR128	101848187	0.000000	0.05858	0.003000	0.11579	0.199000	0.23934	-1.251000	0.02882	-0.824000	0.04295	-0.176000	0.13171	CAA		0.398	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			24	222	0	0	0	1	0	24	222				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	430	0	0	0	1	0	5	430				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	109	0	0	0	1	0	5	109				
CELSR3	1951	broad.mit.edu	37	3	48677390	48677390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:48677390G>A	ENST00000164024.4	-	34	9908	c.9628C>T	c.(9628-9630)Cgg>Tgg	p.R3210W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3215W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3210					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGGGTGCCGGCTAGGCACC	0.657																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9643-9645)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							48.0	58.0	55.0					3																	48677390		2202	4300	6502	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677390G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9628C>T	3.37:g.48677390G>A	ENSP00000164024:p.Arg3210Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R3210W	p.R3215W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9923	-			3210					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9643C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946434	0.73672	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73047	-0.71;-0.71	4.92	1.72	0.24424	.	.	.	.	.	T	0.68952	0.3057	L	0.34521	1.04	0.32023	N	0.600519	D;D;D	0.71674	0.99;0.995;0.998	P;P;P	0.53490	0.727;0.661;0.661	T	0.74377	-0.3685	9	0.72032	D	0.01	.	12.4996	0.55948	0.0:0.0:0.4274:0.5726	.	3215;3210;3308	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3210;3215	ENSP00000164024:R3210W;ENSP00000445694:R3215W	ENSP00000164024:R3210W	R	-	1	2	CELSR3	48652394	0.999000	0.42202	0.996000	0.52242	0.912000	0.54170	2.199000	0.42715	1.035000	0.39972	0.561000	0.74099	CGG		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		32	255	0	0	0	1	0	32	255				
RHPN2	85415	broad.mit.edu	37	19	33493188	33493188	+	Missense_Mutation	SNP	T	T	A	rs193179333	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:33493188T>A	ENST00000254260.3	-	9	1105	c.1070A>T	c.(1069-1071)cAc>cTc	p.H357L	RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	357	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.H357L(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTGAAGTAGTGGGCCAGGGC	0.647																																						ENST00000254260.3																			2	Substitution - Missense(2)	p.H357L(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1069-1071)cAc>cTc		rhophilin, Rho GTPase binding protein 2							45.0	42.0	43.0					19																	33493188		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33493188T>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1070A>T	19.37:g.33493188T>A	ENSP00000254260:p.His357Leu					RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L	p.H357L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			9	1105	-	Esophageal squamous(110;0.137)		357			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1070A>T	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323917	0.81580	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.20598	2.06;2.06	4.61	4.61	0.57282	BRO1 domain (3);	0.045255	0.85682	D	0.000000	T	0.46619	0.1402	M	0.87269	2.87	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.57934	-0.7725	10	0.87932	D	0	-27.93	14.3018	0.66357	0.0:0.0:0.0:1.0	.	357	Q8IUC4	RHPN2_HUMAN	L	357;87;206	ENSP00000254260:H357L;ENSP00000402244:H206L	ENSP00000254260:H357L	H	-	2	0	RHPN2	38185028	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.570000	0.82390	1.829000	0.53265	0.374000	0.22700	CAC		0.647	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		6	228	0	0	0	1	0	6	228				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		13	108	0	0	0	1	0	13	108				
PSG7	5676	broad.mit.edu	37	19	43441294	43441294	+	RNA	SNP	C	C	T	rs374924950		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:43441294C>T	ENST00000406070.2	-	0	31				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTCCTGAGCACGGCTGTCAGC	0.617																																						ENST00000471557.1																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)		C	,	2,1382		1,0,691	41.0	43.0	43.0		,	-0.2	0.0	19		43	1,3181		0,1,1590	no	utr-5,utr-5	PSG7	NM_001206650.1,NM_002783.2	,	1,1,2281	TT,TC,CC		0.0314,0.1445,0.0657	,	,	43441294	3,4563	692	1591	2283			5676				female pregnancy	extracellular region		g.chr19:43441294C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43441294C>T						PSG7_ENST00000446844.3_RNA|PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	36	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.617	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		25	180	0	0	0	1	0	25	180				
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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		8	1134	0	0	0	1	0	8	1134				
SEPT5	5413	broad.mit.edu	37	22	19707654	19707654	+	Silent	SNP	G	G	A	rs200503937		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:19707654G>A	ENST00000455784.2	+	5	380	c.255G>A	c.(253-255)acG>acA	p.T85T	SEPT5_ENST00000406395.1_Silent_p.T85T|SEPT5_ENST00000383045.3_Silent_p.T94T|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Silent_p.T94T	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	85	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCAGCCAGACGGTAGAGATTC	0.592																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(280-282)acG>acA		septin 5		G	,	0,4402		0,0,2201	94.0	80.0	85.0		282,255	-6.1	0.7	22		85	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SEPT5	NM_001009939.2,NM_002688.5	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	94/347,85/370	19707654	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19707654G>A	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.255G>A	22.37:g.19707654G>A						SEPT5_ENST00000383045.3_Silent_p.T94T|SEPT5_ENST00000406395.1_Silent_p.T85T|SEPT5_ENST00000455784.2_Silent_p.T85T	p.T94T	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			4	562	+	Colorectal(54;0.0993)		85					O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	c.282G>A	CCDS13764.1																																																																																				0.592	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		4	191	0	0	0	1	0	4	191				
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A	rs199831831		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr18:15323336G>A	ENST00000455308.2	-	0	512				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		16958	0.0		0.001	False		,,,				2504	0.0					ENST00000455308.2																			0																																																			0							g.chr18:15323336G>A																													18.37:g.15323336G>A								NR_027417.1						0	512	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.289	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			5	27	0	0	0	1	0	5	27				
FOSL1	8061	broad.mit.edu	37	11	65661489	65661489	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:65661489T>A	ENST00000312562.2	-	3	587	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	FOSL1_ENST00000532401.1_Silent_p.A132A|FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000531493.1_Intron	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	134	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GCTCACCGCCTGCAGGAAGTC	0.657																																						ENST00000312562.2																			0				breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(400-402)cAg>cTg		FOS-like antigen 1							35.0	30.0	31.0					11																	65661489		2200	4295	6495	SO:0001583	missense	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65661489T>A	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.401A>T	11.37:g.65661489T>A	ENSP00000310170:p.Gln134Leu					FOSL1_ENST00000532401.1_Silent_p.A132A|FOSL1_ENST00000531493.1_Intron|FOSL1_ENST00000448083.2_Intron	p.Q134L	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	3	587	-			134			Leucine-zipper.		B4DR11|Q6FG51	Missense_Mutation	SNP	ENST00000312562.2	37	c.401A>T	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791078	0.90367	.	.	ENSG00000175592	ENST00000312562	T	0.56444	0.46	4.26	4.26	0.50523	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.120965	0.56097	D	0.000025	T	0.69278	0.3093	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.73512	-0.3959	10	0.87932	D	0	-19.5225	11.6688	0.51389	0.0:0.0:0.0:1.0	.	134	P15407	FOSL1_HUMAN	L	134	ENSP00000310170:Q134L	ENSP00000310170:Q134L	Q	-	2	0	FOSL1	65418065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.533000	0.81994	1.931000	0.55961	0.528000	0.53228	CAG		0.657	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		3	38	0	0	0	1	0	3	38				
STK31	56164	broad.mit.edu	37	7	23792437	23792437	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:23792437A>G	ENST00000355870.3	+	9	1238	c.1119A>G	c.(1117-1119)atA>atG	p.I373M	STK31_ENST00000428484.1_Missense_Mutation_p.I350M|STK31_ENST00000433467.2_Missense_Mutation_p.I373M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.I350M	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	373						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGATGGAAATACTGAAAGAAA	0.333																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1048-1050)atA>atG		serine/threonine kinase 31							67.0	67.0	67.0					7																	23792437		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792437A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1119A>G	7.37:g.23792437A>G	ENSP00000348132:p.Ile373Met					STK31_ENST00000433467.2_Missense_Mutation_p.I373M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.I373M|STK31_ENST00000428484.1_Missense_Mutation_p.I350M	p.I350M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			9	1514	+			373					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1050A>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	1.604	-0.525678	0.04141	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.94	-4.71	0.03279	.	0.667143	0.15196	N	0.275271	T	0.05731	0.0150	N	0.20685	0.6	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.36841	-0.9731	10	0.19147	T	0.46	1.7106	5.3799	0.16186	0.3532:0.2924:0.3544:0.0	.	373;373	B4DZ06;Q9BXU1	.;STK31_HUMAN	M	373;373;350;350	ENSP00000348132:I373M;ENSP00000411852:I373M;ENSP00000346660:I350M;ENSP00000406146:I350M	ENSP00000346660:I350M	I	+	3	3	STK31	23758962	0.000000	0.05858	0.002000	0.10522	0.209000	0.24338	-1.076000	0.03420	-0.604000	0.05760	-0.376000	0.06991	ATA		0.333	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		16	153	0	0	0	1	0	16	153				
UNC13C	440279	broad.mit.edu	37	15	54916007	54916007	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:54916007G>A	ENST00000260323.11	+	31	6214	c.6214G>A	c.(6214-6216)Gac>Aac	p.D2072N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D2072N|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000537900.1_Missense_Mutation_p.D2070N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2072	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCTATTAATGACCTAAACTG	0.368																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(6214-6216)Gac>Aac		unc-13 homolog C (C. elegans)							69.0	65.0	67.0					15																	54916007		1835	4084	5919	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54916007G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6214G>A	15.37:g.54916007G>A	ENSP00000260323:p.Asp2072Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.D2070N|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.D2072N	p.D2072N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	31	6214	+			2072			C2 2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6214G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	8.260	0.811040	0.16537	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.75367	-0.93;-0.93;-0.93	5.53	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.344021	0.33419	N	0.004929	T	0.57227	0.2039	N	0.20357	0.565	0.34289	D	0.683087	B	0.06786	0.001	B	0.04013	0.001	T	0.59915	-0.7364	10	0.31617	T	0.26	.	9.1177	0.36769	0.2002:0.0:0.7998:0.0	.	2072	Q8NB66	UN13C_HUMAN	N	2072;2072;2070	ENSP00000260323:D2072N;ENSP00000438156:D2072N;ENSP00000442569:D2070N	ENSP00000260323:D2072N	D	+	1	0	UNC13C	52703299	1.000000	0.71417	0.997000	0.53966	0.333000	0.28666	4.974000	0.63771	1.196000	0.43129	0.563000	0.77884	GAC		0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		11	89	0	0	0	1	0	11	89				
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr18:15323340A>G	ENST00000455308.2	-	0	508				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299																																						ENST00000455308.2																			0																																																			0							g.chr18:15323340A>G																													18.37:g.15323340A>G								NR_027417.1						0	508	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.299	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			6	28	0	0	0	1	0	6	28				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				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)	p.Q204Q(1)		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						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	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.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	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.chr7:114270000G>A	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.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	147	0	0	0	1	0	4	147				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	274	0	0	0	1	0	7	274				
KAT6B	23522	broad.mit.edu	37	10	76735263	76735263	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:76735263G>A	ENST00000287239.4	+	8	1657	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	KAT6B_ENST00000372711.1_Missense_Mutation_p.A390T|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	390	Negatively regulates HAT activity.				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)										TGGTCATGCTGCATCTGGGAA	0.522																																						ENST00000287239.4																			0											c.(1168-1170)Gca>Aca		K(lysine) acetyltransferase 6B							115.0	102.0	106.0					10																	76735263		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.chr10:76735263G>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.1168G>A	10.37:g.76735263G>A	ENSP00000287239:p.Ala390Thr					KAT6B_ENST00000372711.1_Missense_Mutation_p.A390T|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron	p.A390T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	1657	+			390			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1168G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259685	0.39995	.	.	ENSG00000156650	ENST00000287239;ENST00000372711	T;T	0.77620	-1.11;-1.11	5.73	5.73	0.89815	.	0.000000	0.46758	D	0.000280	T	0.81688	0.4875	L	0.29908	0.895	0.33513	D	0.591426	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.83257	-0.0050	9	.	.	.	-8.6299	18.0612	0.89378	0.0:0.0:1.0:0.0	.	390;390	Q8WYB5-2;Q8WYB5	.;KAT6B_HUMAN	T	390	ENSP00000287239:A390T;ENSP00000361796:A390T	.	A	+	1	0	KAT6B	76405269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.219000	0.78000	2.716000	0.92895	0.655000	0.94253	GCA		0.522	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		6	268	0	0	0	1	0	6	268				
OSTF1	26578	broad.mit.edu	37	9	77752511	77752511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:77752511G>A	ENST00000346234.6	+	8	616	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	156					ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						TGCAGATATCGTCCAGTTGCT	0.398																																						ENST00000346234.6																			0				endometrium(1)|skin(1)	2						c.(466-468)Gtc>Atc		osteoclast stimulating factor 1							176.0	150.0	159.0					9																	77752511		2203	4300	6503	SO:0001583	missense	26578				ossification|signal transduction	cytoplasm	identical protein binding	g.chr9:77752511G>A	U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.466G>A	9.37:g.77752511G>A	ENSP00000340836:p.Val156Ile						p.V156I	NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN			8	616	+			156					Q5W126|Q96IJ4	Missense_Mutation	SNP	ENST00000346234.6	37	c.466G>A	CCDS6651.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878070	0.91664	.	.	ENSG00000134996	ENST00000346234	T	0.71698	-0.59	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.78314	0.991;0.893	T	0.77313	-0.2634	10	0.45353	T	0.12	-17.9865	18.188	0.89798	0.0:0.0:1.0:0.0	.	156;156	A8K646;Q92882	.;OSTF1_HUMAN	I	156	ENSP00000340836:V156I	ENSP00000340836:V156I	V	+	1	0	OSTF1	76942331	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.757000	0.91657	2.585000	0.87301	0.563000	0.77884	GTC		0.398	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	NM_012383		20	199	0	0	0	1	0	20	199				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		12	554	0	0	0	1	0	12	554				
FCGBP	8857	broad.mit.edu	37	19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	134	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCCGCAGCAGTGTC	0.597																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(400-402)Cgg>Tgg		Fc fragment of IgG binding protein							64.0	54.0	57.0					19																	40433869		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433869G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.400C>T	19.37:g.40433869G>A	ENSP00000221347:p.Arg134Trp						p.R134W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	407	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		134			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.400C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442631	0.12164	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.13	-8.27	0.01017	.	0.899723	0.09194	N	0.835531	T	0.04137	0.0115	N	0.00926	-1.1	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45991	-0.9223	10	0.37606	T	0.19	.	8.3971	0.32564	0.6469:0.0:0.1439:0.2092	.	134	Q9Y6R7	FCGBP_HUMAN	W	134	ENSP00000221347:R134W	ENSP00000221347:R134W	R	-	1	2	FCGBP	45125709	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.060000	0.11712	-1.660000	0.01486	0.655000	0.94253	CGG		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	191	0	0	0	1	0	4	191				
PFKP	5214	broad.mit.edu	37	10	3143180	3143180	+	Intron	SNP	G	G	A	rs571459367	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:3143180G>A	ENST00000381125.4	+	4	340				PFKP_ENST00000421751.1_Intron|PFKP_ENST00000381075.2_Silent_p.R76R	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTCCTGGCCGGCATGCTCTGG	0.622																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(226-228)cgG>cgA		phosphofructokinase, platelet							115.0	106.0	109.0					10																	3143180		876	1991	2867	SO:0001627	intron_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3143180G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.265-377G>A	10.37:g.3143180G>A						PFKP_ENST00000381125.4_Intron	p.R76R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	5	452	+			0					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.228G>A	CCDS7059.1																																																																																				0.622	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		6	418	0	0	0	1	0	6	418				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	308	0	0	0	1	0	4	308				
ABCA2	20	broad.mit.edu	37	9	139908435	139908435	+	Silent	SNP	G	G	A	rs377594797		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139908435G>A	ENST00000371605.3	-	27	4440	c.4293C>T	c.(4291-4293)ggC>ggT	p.G1431G	ABCA2_ENST00000341511.6_Silent_p.G1432G|ABCA2_ENST00000265662.5_Silent_p.G1432G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1431					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCAGCCACCCGCCGTCCAGCT	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12959	0.0		0.0	False		,,,				2504	0.0					ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(4294-4296)ggC>ggT		ATP-binding cassette, sub-family A (ABC1), member 2		G	,	2,4166		0,2,2082	32.0	41.0	38.0		4296,4386	4.7	1.0	9		38	0,8396		0,0,4198	no	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,2,6280	AA,AG,GG		0.0,0.048,0.0159	,	1432/2437,1462/2467	139908435	2,12562	2084	4198	6282	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139908435G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4293C>T	9.37:g.139908435G>A						ABCA2_ENST00000371605.3_Silent_p.G1431G|ABCA2_ENST00000341511.6_Silent_p.G1432G	p.G1432G			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	28	4443	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1431					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4296C>T																																																																																					0.657	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		9	216	0	0	0	1	0	9	216				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	154	0	0	0	1	0	6	154				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_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		9	77	0	0	0	1	0	9	77				
PPP3CA	5530	broad.mit.edu	37	4	101947138	101947138	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:101947138G>A	ENST00000394854.3	-	14	2133	c.1450C>T	c.(1450-1452)Ccg>Tcg	p.P484S	PPP3CA_ENST00000394853.4_Missense_Mutation_p.P474S|PPP3CA_ENST00000523694.2_Missense_Mutation_p.P417S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P252S|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P432S|PPP3CA_ENST00000507176.1_Missense_Mutation_p.P386S	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	484	Inhibitory domain.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTGCGAGGCGGCATCCTCTCA	0.468																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1450-1452)Ccg>Tcg		protein phosphatase 3, catalytic subunit, alpha isozyme							208.0	197.0	201.0					4																	101947138		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947138G>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1450C>T	4.37:g.101947138G>A	ENSP00000378323:p.Pro484Ser					PPP3CA_ENST00000394853.4_Missense_Mutation_p.P474S|PPP3CA_ENST00000523694.2_Missense_Mutation_p.P417S|PPP3CA_ENST00000507176.1_Missense_Mutation_p.P386S|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P432S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P252S	p.P484S	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2133	-			484			Inhibitory domain.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1450C>T	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913627	0.72983	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46;3.46	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;1.0;1.0	T	0.28650	-1.0037	10	0.87932	D	0	-9.9218	20.0473	0.97613	0.0:0.0:1.0:0.0	.	484;252;432;474;386;417	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	S	252;484;432;474;386;417	ENSP00000422781:P252S;ENSP00000378323:P484S;ENSP00000320580:P432S;ENSP00000378322:P474S;ENSP00000422990:P386S;ENSP00000429350:P417S	ENSP00000320580:P432S	P	-	1	0	PPP3CA	102166161	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.502000	0.97981	2.722000	0.93159	0.655000	0.94253	CCG		0.468	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		5	475	0	0	0	1	0	5	475				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		15	101	0	0	0	1	0	15	101				
ZAN	7455	broad.mit.edu	37	7	100350298	100350298	+	RNA	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:100350298C>T	ENST00000348028.3	+	0	2735				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							269.0	312.0	298.0					7																	100350298		1882	4119	6001			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350298C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350298C>T						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2718	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	11.71	1.720754	0.30503	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62232	0.04;0.04;0.04	3.97	0.987	0.19790	.	0.553938	0.13699	N	0.368999	T	0.53158	0.1779	L	0.33485	1.01	0.09310	N	0.999996	P;B	0.44734	0.842;0.201	P;B	0.47645	0.553;0.148	T	0.44345	-0.9334	10	0.62326	D	0.03	.	5.9038	0.18982	0.0:0.6494:0.1584:0.1922	.	857;857	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	857	ENSP00000445943:P857L;ENSP00000445091:P857L;ENSP00000444427:P857L	ENSP00000423579:P857L	P	+	2	0	ZAN	100188234	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.014000	0.12656	0.065000	0.16485	-0.192000	0.12808	CCC		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	490	0	0	0	1	0	7	490				
ANK2	287	broad.mit.edu	37	4	114179218	114179218	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:114179218C>T	ENST00000357077.4	+	12	1254	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	ANK2_ENST00000506722.1_Missense_Mutation_p.P380S|ANK2_ENST00000264366.6_Missense_Mutation_p.P401S|ANK2_ENST00000394537.3_Missense_Mutation_p.P401S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	401					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGTTTTACTCCACTGCACAT	0.398																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1201-1203)Cca>Tca		ankyrin 2, neuronal							105.0	99.0	101.0					4																	114179218		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114179218C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1201C>T	4.37:g.114179218C>T	ENSP00000349588:p.Pro401Ser					ANK2_ENST00000264366.6_Missense_Mutation_p.P401S|ANK2_ENST00000506722.1_Missense_Mutation_p.P380S|ANK2_ENST00000394537.3_Missense_Mutation_p.P401S	p.P401S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	12	1254	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	401					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1201C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969555	0.92855	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.78003	-1.14;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000051	D	0.88768	0.6526	M	0.75884	2.315	0.80722	D	1	D;P;P;P;D	0.89917	1.0;0.63;0.911;0.635;0.998	D;P;P;B;D	0.87578	0.998;0.495;0.755;0.396;0.997	D	0.88615	0.3159	10	0.72032	D	0.01	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	401;401;401;380;380	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	380;380;380;416;401;401;401;380	ENSP00000423799:P380S;ENSP00000421011:P380S;ENSP00000421067:P380S;ENSP00000424722:P416S;ENSP00000378044:P401S;ENSP00000349588:P401S;ENSP00000264366:P401S	ENSP00000264366:P401S	P	+	1	0	ANK2	114398667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.817000	0.96982	0.563000	0.77884	CCA		0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	188	0	0	0	1	0	7	188				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	269	0	0	0	1	0	10	269				
TMEM143	55260	broad.mit.edu	37	19	48837419	48837419	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:48837419C>G	ENST00000293261.3	-	7	1327	c.1011G>C	c.(1009-1011)gaG>gaC	p.E337D	TMEM143_ENST00000541566.1_Missense_Mutation_p.E227D|TMEM143_ENST00000435956.3_Missense_Mutation_p.E302D|TMEM143_ENST00000377431.2_Missense_Mutation_p.E237D|TMEM143_ENST00000436660.2_Missense_Mutation_p.E272D	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	337					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGTGCGCCAGCTCCAACGCCT	0.701											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(1009-1011)gaG>gaC		transmembrane protein 143							15.0	15.0	15.0					19																	48837419		2191	4286	6477	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48837419C>G	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1011G>C	19.37:g.48837419C>G	ENSP00000293261:p.Glu337Asp		OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	957	TMEM143_ENST00000377431.2_Missense_Mutation_p.E237D|TMEM143_ENST00000541566.1_Missense_Mutation_p.E227D|TMEM143_ENST00000435956.3_Missense_Mutation_p.E302D|TMEM143_ENST00000436660.2_Missense_Mutation_p.E272D	p.E337D	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	7	1327	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	337					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.1011G>C	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571313	0.28003	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.50548	0.74;0.76;0.75	4.02	1.82	0.25136	.	0.104192	0.39274	N	0.001413	T	0.33294	0.0858	L	0.47716	1.5	0.27686	N	0.946273	B;B;B;B	0.15930	0.015;0.0;0.004;0.001	B;B;B;B	0.17979	0.02;0.002;0.015;0.004	T	0.17745	-1.0359	10	0.18710	T	0.47	-14.1542	5.1988	0.15252	0.0:0.6356:0.1716:0.1929	.	272;237;302;337	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	D	337;237;302;272;227	ENSP00000293261:E337D;ENSP00000397038:E302D;ENSP00000444275:E227D	ENSP00000293261:E337D	E	-	3	2	TMEM143	53529231	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	0.755000	0.26405	0.299000	0.22661	0.313000	0.20887	GAG		0.701	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		8	60	0	0	0	1	0	8	60				
RP1	6101	broad.mit.edu	37	8	55539165	55539165	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:55539165C>G	ENST00000220676.1	+	4	2871	c.2723C>G	c.(2722-2724)gCt>gGt	p.A908G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	908					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGCTATTGCTCATCATTCA	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2722-2724)gCt>gGt		retinitis pigmentosa 1 (autosomal dominant)							30.0	32.0	31.0					8																	55539165		2199	4295	6494	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539165C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2723C>G	8.37:g.55539165C>G	ENSP00000220676:p.Ala908Gly						p.A908G	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2871	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	908						Missense_Mutation	SNP	ENST00000220676.1	37	c.2723C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838250	0.32513	.	.	ENSG00000104237	ENST00000220676	T	0.47869	0.83	5.65	4.76	0.60689	.	0.812455	0.10842	N	0.628097	T	0.35189	0.0923	L	0.29908	0.895	0.09310	N	0.999998	P	0.39282	0.666	B	0.33339	0.162	T	0.20273	-1.0280	10	0.72032	D	0.01	.	10.4038	0.44246	0.0:0.7852:0.137:0.0778	.	908	P56715	RP1_HUMAN	G	908	ENSP00000220676:A908G	ENSP00000220676:A908G	A	+	2	0	RP1	55701718	0.936000	0.31750	0.399000	0.26333	0.958000	0.62258	1.179000	0.31993	1.357000	0.45904	0.655000	0.94253	GCT		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		14	143	0	0	0	1	0	14	143				
HLCS	3141	broad.mit.edu	37	21	38269180	38269180	+	Silent	SNP	T	T	C			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:38269180T>C	ENST00000399120.1	-	7	2661	c.1431A>G	c.(1429-1431)acA>acG	p.T477T	HLCS_ENST00000336648.4_Silent_p.T477T|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	477	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GACGCATCGTTGTGGGGGTCA	0.493																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1429-1431)acA>acG		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						88.0	79.0	82.0					21																	38269180		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38269180T>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1431A>G	21.37:g.38269180T>C						HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Silent_p.T477T	p.T477T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			7	2661	-		Myeloproliferative disorder(46;0.0422)	477					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.1431A>G	CCDS13647.1																																																																																				0.493	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			16	188	0	0	0	1	0	16	188				
NRBP1	29959	broad.mit.edu	37	2	27664633	27664633	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:27664633C>T	ENST00000233557.3	+	19	2394	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.A529V|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.A521V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	521					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.A521V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTCAATTTTGCCAGGAACAGT	0.572																																						ENST00000233557.3																			1	Substitution - Missense(1)	p.A521V(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1561-1563)gCc>gTc		nuclear receptor binding protein 1							163.0	166.0	165.0					2																	27664633		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27664633C>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1562C>T	2.37:g.27664633C>T	ENSP00000233557:p.Ala521Val					NRBP1_ENST00000379863.3_Missense_Mutation_p.A529V|NRBP1_ENST00000379852.3_Missense_Mutation_p.A521V	p.A521V			Q9UHY1	NRBP_HUMAN			19	2394	+	Acute lymphoblastic leukemia(172;0.155)		521					B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.1562C>T	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346025	0.61073	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.14640	2.79;2.79;2.49	5.56	5.56	0.83823	.	0.247697	0.47455	D	0.000236	T	0.11537	0.0281	N	0.14661	0.345	0.34921	D	0.748418	B;B;B	0.28713	0.22;0.043;0.025	B;B;B	0.30401	0.115;0.049;0.013	T	0.18116	-1.0347	10	0.62326	D	0.03	-4.5565	18.0752	0.89425	0.0:1.0:0.0:0.0	.	501;529;521	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	V	521;501;521;529	ENSP00000233557:A521V;ENSP00000369181:A521V;ENSP00000369192:A529V	ENSP00000233557:A521V	A	+	2	0	NRBP1	27518137	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.033000	0.57282	2.615000	0.88500	0.561000	0.74099	GCC		0.572	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		6	716	0	0	0	1	0	6	716				
APEH	327	broad.mit.edu	37	3	49723545	49723545	+	IGR	SNP	G	G	A	rs4052562		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:49723545G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.A366V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAAAAGGCCGCGCGCATGCC	0.667																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1096-1098)gCg>gTg		macrophage stimulating 1 (hepatocyte growth factor-like)							13.0	16.0	15.0					3																	49723545		2196	4290	6486	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723545G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723545G>A						MST1_ENST00000383728.3_3'UTR	p.A366V	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1458	-			352					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1097C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	6.330	0.429012	0.11987	.	.	ENSG00000173531	ENST00000449682	T	0.61510	0.1	5.4	2.9	0.33743	.	0.872863	0.09498	N	0.793992	T	0.22322	0.0538	N	0.01048	-1.04	0.58432	D	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	10	0.02654	T	1	.	6.4095	0.21682	0.7107:0.0:0.0698:0.2196	rs4052562	366	G3XAK1	.	V	366	ENSP00000414287:A366V	ENSP00000414287:A366V	A	-	2	0	MST1	49698549	1.000000	0.71417	0.233000	0.24025	0.897000	0.52465	4.372000	0.59530	0.016000	0.14998	-0.254000	0.11334	GCG		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	131	0	0	0	1	0	4	131				
RBM6	10180	broad.mit.edu	37	3	50085685	50085685	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:50085685T>G	ENST00000266022.4	+	7	1824	c.1565T>G	c.(1564-1566)cTa>cGa	p.L522R	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_5'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.L390R	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	522	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGGGAACTCTAATGATCCAG	0.433																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(1168-1170)cTa>cGa		RNA binding motif protein 6							93.0	91.0	92.0					3																	50085685		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50085685T>G	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1565T>G	3.37:g.50085685T>G	ENSP00000266022:p.Leu522Arg					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.L522R|RBM6_ENST00000442092.1_5'UTR|RBM6_ENST00000441115.1_3'UTR	p.L390R			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	7	2088	+			522					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1169T>G	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608302	0.66558	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.10192	2.9;2.9	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.208568	0.30859	N	0.008727	T	0.29423	0.0733	M	0.71206	2.165	0.80722	D	1	D;D	0.55800	0.973;0.973	D;P	0.64144	0.922;0.898	T	0.00998	-1.1486	9	.	.	.	-3.54	13.227	0.59921	0.0:0.0:0.0:1.0	.	390;522	E9PGM9;P78332	.;RBM6_HUMAN	R	522;390	ENSP00000266022:L522R;ENSP00000396466:L390R	.	L	+	2	0	RBM6	50060689	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.266000	0.58871	2.141000	0.66446	0.528000	0.53228	CTA		0.433	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		15	107	0	0	0	1	0	15	107				
KRTAP5-10	387273	broad.mit.edu	37	11	71276861	71276861	+	Silent	SNP	T	T	C	rs12792973		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:71276861T>C	ENST00000398531.1	+	1	253	c.228T>C	c.(226-228)tcT>tcC	p.S76S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	76	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTGTGGCTCTTGTGGGGGCT	0.677																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(226-228)tcT>tcC		keratin associated protein 5-10																																				SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276861T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.228T>C	11.37:g.71276861T>C						KRTAP5-10_ENST00000376536.4_Intron	p.S76S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	253	+			76			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.228T>C	CCDS41684.1																																																																																				0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			10	1062	0	0	0	1	0	10	1062				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		7	600	0	0	0	1	0	7	600				
PTPRK	5796	broad.mit.edu	37	6	128306921	128306921	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:128306921G>A	ENST00000368215.3	-	22	3192	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	PTPRK_ENST00000368210.3_Missense_Mutation_p.R1084W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1072W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1066W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1088W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1098W|PTPRK_ENST00000368227.3_Missense_Mutation_p.R1083W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1065	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTGACTCGCCGGATAAAGGAA	0.498																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3247-3249)Cgg>Tgg		protein tyrosine phosphatase, receptor type, K							164.0	150.0	154.0					6																	128306921		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128306921G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3193C>T	6.37:g.128306921G>A	ENSP00000357198:p.Arg1065Trp					PTPRK_ENST00000368210.3_Missense_Mutation_p.R1084W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1072W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1065W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1066W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1098W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1088W	p.R1083W			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	23	3613	-			1065			Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3247C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.580797	0.86748	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.991;0.985	D	0.95321	0.8420	10	0.87932	D	0	.	20.0864	0.97801	0.0:0.0:1.0:0.0	.	1088;1072;1065;1066	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	W	1066;1083;1088;1072;1084;1065;1098	ENSP00000357209:R1066W;ENSP00000357210:R1083W;ENSP00000432973:R1088W;ENSP00000357196:R1072W;ENSP00000357193:R1084W;ENSP00000357198:R1065W;ENSP00000357190:R1098W	ENSP00000357190:R1098W	R	-	1	2	PTPRK	128348614	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.548000	0.67255	2.753000	0.94483	0.650000	0.86243	CGG		0.498	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			4	162	0	0	0	1	0	4	162				
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T	rs557071025	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2704-2706)caG>caA		DENN/MADD domain containing 4B							30.0	39.0	36.0					1																	153907303		2184	4281	6465	SO:0001819	synonymous_variant	9909							g.chr1:153907303C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2706G>A	1.37:g.153907303C>T							p.Q902Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3124	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		902			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2706G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	263	0	0	0	1	0	6	263				
GRIK2	2898	broad.mit.edu	37	6	102337618	102337618	+	Missense_Mutation	SNP	G	G	A	rs141189363		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:102337618G>A	ENST00000421544.1	+	11	2118	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000369138.1_Missense_Mutation_p.R543H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	543					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)			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)	ATTTTGTACCGCAAGCCCAAT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14787	0.0		0.0	False		,,,				2504	0.0					ENST00000369138.1																			0				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.(1627-1629)cGc>cAc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)	G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	179.0	174.0	176.0		1628,1628,1628	5.6	1.0	6	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	GRIK2	NM_001166247.1,NM_021956.4,NM_175768.3	29,29,29	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	possibly-damaging,possibly-damaging,possibly-damaging	543/893,543/909,543/870	102337618	5,13001	2203	4300	6503	SO:0001583	missense	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.chr6:102337618G>A		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.1628G>A	6.37:g.102337618G>A	ENSP00000397026:p.Arg543His					GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R543H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H	p.R543H	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)	11	2118	+		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)	543					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1628G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374924	0.82573	6.81E-4	2.33E-4	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T;T	0.54071	2.55;2.55;2.55;0.59;2.55;2.55;2.55	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.104915	0.64402	D	0.000002	T	0.45617	0.1351	M	0.69463	2.115	0.80722	D	1	P;P;P	0.40875	0.731;0.611;0.731	B;B;B	0.37888	0.26;0.133;0.26	T	0.56025	-0.8047	10	0.66056	D	0.02	.	19.6182	0.95643	0.0:0.0:1.0:0.0	.	543;543;543	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	543;543;543;543;543;543;494;142	ENSP00000397026:R543H;ENSP00000405596:R543H;ENSP00000358134:R543H;ENSP00000358133:R543H;ENSP00000313276:R543H;ENSP00000358130:R494H;ENSP00000407140:R142H	ENSP00000313276:R543H	R	+	2	0	GRIK2	102444311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.626000	0.88956	0.650000	0.86243	CGC		0.468	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			7	492	0	0	0	1	0	7	492				
TACC2	10579	broad.mit.edu	37	10	124009109	124009109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:124009109C>T	ENST00000369005.1	+	22	9051	c.8711C>T	c.(8710-8712)gCc>gTc	p.A2904V	TACC2_ENST00000334433.3_Missense_Mutation_p.A2904V|TACC2_ENST00000360561.3_Missense_Mutation_p.A952V|TACC2_ENST00000369001.1_Missense_Mutation_p.A531V|TACC2_ENST00000453444.2_Missense_Mutation_p.A2831V|TACC2_ENST00000368999.1_Missense_Mutation_p.A994V|TACC2_ENST00000513429.1_Missense_Mutation_p.A1050V|TACC2_ENST00000369004.3_Missense_Mutation_p.A964V|TACC2_ENST00000369000.1_Missense_Mutation_p.A527V|TACC2_ENST00000515603.1_Missense_Mutation_p.A2782V|TACC2_ENST00000260733.3_Missense_Mutation_p.A982V|TACC2_ENST00000515273.1_Missense_Mutation_p.A2831V|TACC2_ENST00000358010.1_Missense_Mutation_p.A1050V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2904					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGAGCAAGCCGCCCACCAG	0.607																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8710-8712)gCc>gTc		transforming, acidic coiled-coil containing protein 2							32.0	32.0	32.0					10																	124009109		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124009109C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8711C>T	10.37:g.124009109C>T	ENSP00000358001:p.Ala2904Val					TACC2_ENST00000358010.1_Missense_Mutation_p.A1050V|TACC2_ENST00000453444.2_Missense_Mutation_p.A2831V|TACC2_ENST00000369004.3_Missense_Mutation_p.A964V|TACC2_ENST00000515603.1_Missense_Mutation_p.A2782V|TACC2_ENST00000369001.1_Missense_Mutation_p.A531V|TACC2_ENST00000360561.3_Missense_Mutation_p.A952V|TACC2_ENST00000369000.1_Missense_Mutation_p.A527V|TACC2_ENST00000334433.3_Missense_Mutation_p.A2904V|TACC2_ENST00000515273.1_Missense_Mutation_p.A2831V|TACC2_ENST00000368999.1_Missense_Mutation_p.A994V|TACC2_ENST00000260733.3_Missense_Mutation_p.A982V|TACC2_ENST00000513429.1_Missense_Mutation_p.A1050V	p.A2904V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			22	9051	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2904					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8711C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577564	0.65878	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.16	4.26	0.50523	.	0.000000	0.36703	N	0.002443	T	0.40956	0.1138	N	0.10809	0.05	0.44149	D	0.996949	P;D;P;D;P;B;B;B;P	0.76494	0.857;0.999;0.914;0.987;0.537;0.357;0.383;0.357;0.841	P;D;D;D;B;B;B;B;P	0.76071	0.9;0.987;0.944;0.979;0.219;0.236;0.32;0.155;0.863	T	0.29579	-1.0007	10	0.30854	T	0.27	-14.0135	10.1968	0.43060	0.0:0.8479:0.0:0.1521	.	2831;964;2782;2831;952;982;527;1050;2904	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2904;1050;2831;2782;2904;1050;2831;2817;531;527;952;994;964;982	ENSP00000358001:A2904V;ENSP00000425062:A1050V;ENSP00000424467:A2831V;ENSP00000427618:A2782V;ENSP00000334280:A2904V;ENSP00000350701:A1050V;ENSP00000395048:A2831V;ENSP00000357997:A531V;ENSP00000357996:A527V;ENSP00000353763:A952V;ENSP00000357995:A994V;ENSP00000422815:A964V;ENSP00000260733:A982V	ENSP00000260733:A982V	A	+	2	0	TACC2	123999099	0.884000	0.30299	0.893000	0.35052	0.906000	0.53458	1.703000	0.37846	1.322000	0.45245	-0.136000	0.14681	GCC		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	162	0	0	0	1	0	4	162				
BMP2K	55589	broad.mit.edu	37	4	79792139	79792139	+	Silent	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:79792139G>A	ENST00000335016.5	+	11	1600	c.1434G>A	c.(1432-1434)caG>caA	p.Q478Q	BMP2K_ENST00000502871.1_Silent_p.Q478Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	478	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.|Q -> R (in Ref. 4; AAH36021). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						aacagcaacagcagcagcagc	0.498																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1432-1434)caG>caA		BMP2 inducible kinase							19.0	23.0	22.0					4																	79792139		2047	3976	6023	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792139G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1434G>A	4.37:g.79792139G>A						BMP2K_ENST00000502871.1_Silent_p.Q478Q	p.Q478Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1600	+			478	Missing (in Ref. 2; CAB70863).|Q -> R (in Ref. 3; AAH36021).		Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1434G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	1.944	-0.442923	0.04604	.	.	ENSG00000138756	ENST00000502613	.	.	.	0.589	-0.547	0.11836	.	.	.	.	.	T	0.43831	0.1265	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	4.047	0.09778	0.3256:0.0:0.6744:0.0	.	.	.	.	T	171	.	.	A	+	1	0	BMP2K	80011163	0.955000	0.32602	0.218000	0.23776	0.072000	0.16883	0.658000	0.24979	-0.302000	0.08869	0.174000	0.16983	GCA		0.498	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		5	160	0	0	0	1	0	5	160				
C10orf2	56652	broad.mit.edu	37	10	102748967	102748967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:102748967C>T	ENST00000311916.2	+	1	1185	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R334*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000318364.8_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	334			R -> P (in PEOA3). {ECO:0000269|PubMed:18575922}.|R -> Q (in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance; dbSNP:rs28937887). {ECO:0000269|PubMed:12707443, ECO:0000269|PubMed:12872260, ECO:0000269|PubMed:20479361}.		cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTTCTTGGTGCGACCAGGAGA	0.572																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(1000-1002)Cga>Tga		chromosome 10 open reading frame 2							61.0	59.0	60.0					10																	102748967		2203	4300	6503	SO:0001587	stop_gained	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748967C>T	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1000C>T	10.37:g.102748967C>T	ENSP00000309595:p.Arg334*					C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R334*|C10orf2_ENST00000473656.1_Intron	p.R334*	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	1185	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	334		R -> P (in PEOA3).|R -> Q (in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance; dbSNP:rs28937887).			B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Nonsense_Mutation	SNP	ENST00000311916.2	37	c.1000C>T	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.269486	0.80469	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	5.9	2.63	0.31362	.	0.176895	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1322	10.4927	0.44760	0.2696:0.6067:0.1237:0.0	.	.	.	.	X	334	.	ENSP00000309595:R334X	R	+	1	2	C10orf2	102738957	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	2.501000	0.45389	1.443000	0.47586	0.457000	0.33378	CGA		0.572	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		23	282	0	0	0	1	0	23	282				
SLC5A12	159963	broad.mit.edu	37	11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	198					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			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						AATGAGAACCGTTAAGAAGCC	0.403																																						ENST00000396005.3																			0				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.(592-594)aCg>aTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							235.0	215.0	222.0					11																	26725427		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725427G>A	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.593C>T	11.37:g.26725427G>A	ENSP00000379326:p.Thr198Met					SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			5	902	-			198					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.593C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161956	0.78226	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88046	-2.33;-2.33;-2.33	5.16	5.16	0.70880	.	0.058040	0.64402	D	0.000003	D	0.91212	0.7231	L	0.46670	1.46	0.39532	D	0.968674	D;D	0.69078	0.978;0.997	P;D	0.67725	0.707;0.953	D	0.92534	0.6036	10	0.72032	D	0.01	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	198;198	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	198;198;10	ENSP00000379326:T198M;ENSP00000280467:T198M;ENSP00000435053:T10M	ENSP00000280467:T198M	T	-	2	0	SLC5A12	26682003	1.000000	0.71417	0.936000	0.37596	0.978000	0.69477	7.957000	0.87870	2.412000	0.81896	0.484000	0.47621	ACG		0.403	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		6	528	0	0	0	1	0	6	528				
MARCH6	10299	broad.mit.edu	37	5	10426548	10426548	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:10426548G>A	ENST00000274140.5	+	24	2552	c.2420G>A	c.(2419-2421)cGt>cAt	p.R807H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R759H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R702H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	807					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TATATTGTTCGTAAACTGGCA	0.418																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2419-2421)cGt>cAt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							431.0	367.0	389.0					5																	10426548		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426548G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2420G>A	5.37:g.10426548G>A	ENSP00000274140:p.Arg807His					MARCH6_ENST00000503788.1_Missense_Mutation_p.R702H|MARCH6_ENST00000449913.2_Missense_Mutation_p.R759H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505H	p.R807H	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			24	2552	+			807					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2420G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560354	0.45590	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.53857	1.63;0.61;1.63;0.6	5.63	3.85	0.44370	.	0.049904	0.85682	D	0.000000	T	0.48750	0.1517	M	0.61703	1.905	0.58432	D	0.999999	B;B;B;B	0.14012	0.006;0.003;0.003;0.009	B;B;B;B	0.11329	0.006;0.002;0.003;0.003	T	0.43782	-0.9370	10	0.42905	T	0.14	-13.3496	11.15	0.48453	0.0662:0.0:0.8052:0.1285	.	702;759;387;807	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	H	759;702;807;505	ENSP00000414643:R759H;ENSP00000425930:R702H;ENSP00000274140:R807H;ENSP00000424512:R505H	ENSP00000274140:R807H	R	+	2	0	MARCH6	10479548	0.998000	0.40836	0.504000	0.27639	0.951000	0.60555	3.730000	0.55006	0.849000	0.35215	0.655000	0.94253	CGT		0.418	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		5	504	0	0	0	1	0	5	504				
RGPD1	400966	broad.mit.edu	37	2	87140987	87140987	+	Intron	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:87140987G>A	ENST00000409776.2	+	1	64				RGPD1_ENST00000398193.3_Silent_p.K5K			P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672																																						ENST00000398193.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(13-15)aaG>aaA		RANBP2-like and GRIP domain containing 1							19.0	28.0	25.0					2																	87140987		2182	4283	6465	SO:0001627	intron_variant	400966				intracellular transport		binding	g.chr2:87140987G>A		CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"""Tetratricopeptide (TTC) repeat domain containing"""	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000409776.2:c.48+5848G>A	2.37:g.87140987G>A						RGPD1_ENST00000409776.2_Intron	p.K5K			Q68DN6	RGPD1_HUMAN			1	53	+			0					P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000409776.2	37	c.15G>A																																																																																					0.672	RGPD1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001024457		4	87	0	0	0	1	0	4	87				
PRSS58	136541	broad.mit.edu	37	7	141952132	141952132	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:141952132G>A	ENST00000552471.1	-	5	954	c.635C>T	c.(634-636)gCg>gTg	p.A212V	PRSS58_ENST00000547058.2_Missense_Mutation_p.A212V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ACATCCATCCGCAAAAGACAG	0.403																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(634-636)gCg>gTg		protease, serine, 58							55.0	59.0	58.0					7																	141952132		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952132G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.635C>T	7.37:g.141952132G>A	ENSP00000446916:p.Ala212Val					PRSS58_ENST00000547058.2_Missense_Mutation_p.A212V	p.A212V			Q8IYP2	PRS58_HUMAN			5	954	-			212			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.635C>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720505	0.68959	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81247	-1.47;-1.47	5.24	1.27	0.21489	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.74839	0.3769	L	0.35793	1.09	0.09310	N	0.999998	D	0.54964	0.969	P	0.50352	0.638	T	0.64364	-0.6425	9	0.87932	D	0	.	4.4438	0.11588	0.2702:0.1636:0.5661:0.0	.	212	Q8IYP2	PRS58_HUMAN	V	212	ENSP00000447588:A212V;ENSP00000446916:A212V	ENSP00000307206:A212V	A	-	2	0	PRSS58	141598610	0.717000	0.27966	0.008000	0.14137	0.973000	0.67179	1.548000	0.36201	0.781000	0.33589	0.655000	0.94253	GCG		0.403	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		4	166	0	0	0	1	0	4	166				
CCNB2	9133	broad.mit.edu	37	15	59409031	59409031	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:59409031G>A	ENST00000288207.2	+	6	931	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	CCNB2_ENST00000559622.1_Missense_Mutation_p.R166Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	247					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCCCAAATCCGAGAAATGGAA	0.413																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(739-741)cGa>cAa		cyclin B2							117.0	120.0	119.0					15																	59409031		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59409031G>A	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.740G>A	15.37:g.59409031G>A	ENSP00000288207:p.Arg247Gln					CCNB2_ENST00000559622.1_Missense_Mutation_p.R166Q	p.R247Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN			6	931	+			247					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.740G>A	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225727	0.58668	.	.	ENSG00000157456	ENST00000288207	T	0.10960	2.82	5.28	4.35	0.52113	Cyclin, N-terminal (1);Cyclin-like (3);	0.118236	0.53938	D	0.000046	T	0.16727	0.0402	M	0.70842	2.15	0.52501	D	0.999952	P;P	0.43826	0.812;0.818	B;B	0.40782	0.163;0.34	T	0.02617	-1.1133	10	0.72032	D	0.01	.	14.4633	0.67467	0.0:0.0:0.8518:0.1482	.	247;247	Q53HG9;O95067	.;CCNB2_HUMAN	Q	247	ENSP00000288207:R247Q	ENSP00000288207:R247Q	R	+	2	0	CCNB2	57196323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.381000	0.59587	1.318000	0.45170	0.650000	0.86243	CGA		0.413	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		7	482	0	0	0	1	0	7	482				
DNAH17	8632	broad.mit.edu	37	17	76455199	76455199	+	Missense_Mutation	SNP	C	C	T	rs139080560	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:76455199C>T	ENST00000585328.1	-	61	9854	c.9730G>A	c.(9730-9732)Gtc>Atc	p.V3244I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V3235I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3235	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGAAGCGGACGATGTTGATG	0.637													C|||	12	0.00239617	0.0091	0.0	5008	,	,		18349	0.0		0.0	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9703-9705)Gtc>Atc		dynein, axonemal, heavy chain 17		C	ILE/VAL	52,4354	54.2+/-90.2	1,50,2152	171.0	177.0	175.0		9745	5.3	1.0	17	dbSNP_134	175	0,8600		0,0,4300	yes	missense	DNAH17	NM_173628.3	29	1,50,6452	TT,TC,CC		0.0,1.1802,0.3998	benign	3249/4463	76455199	52,12954	2203	4300	6503	SO:0001583	missense	8632							g.chr17:76455199C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9730G>A	17.37:g.76455199C>T	ENSP00000465516:p.Val3244Ile					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3244I	p.V3235I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		61	9827	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9703G>A		5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	14.20	2.464303	0.43736	0.011802	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.79141	-1.24	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000022	T	0.58452	0.2123	L	0.35487	1.065	0.33727	D	0.617749	P	0.35481	0.504	B	0.29716	0.106	T	0.67601	-0.5629	10	0.09590	T	0.72	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	3244	E7EUM8	.	I	3244;3235	ENSP00000374490:V3235I	ENSP00000300671:V3244I	V	-	1	0	DNAH17	73966794	0.998000	0.40836	0.991000	0.47740	0.991000	0.79684	3.678000	0.54627	2.491000	0.84063	0.655000	0.94253	GTC		0.637	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		77	854	0	0	0	1	0	77	854				
ABCA12	26154	broad.mit.edu	37	2	215807679	215807679	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:215807679C>T	ENST00000272895.7	-	50	7625	c.7406G>A	c.(7405-7407)tGt>tAt	p.C2469Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.C2151Y|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2469	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATCCAATACATTGAAACTT	0.393																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(7405-7407)tGt>tAt		ATP-binding cassette, sub-family A (ABC1), member 12							132.0	115.0	121.0					2																	215807679		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215807679C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7406G>A	2.37:g.215807679C>T	ENSP00000272895:p.Cys2469Tyr					ABCA12_ENST00000389661.4_Missense_Mutation_p.C2151Y|AC072062.1_ENST00000607412.1_RNA	p.C2469Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	50	7625	-		Renal(323;0.127)	2469			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.7406G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711011	0.89112	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.97870	-4.58;-4.58	5.65	5.65	0.86999	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99529	1.0960	10	0.87932	D	0	.	19.6795	0.95957	0.0:1.0:0.0:0.0	.	2469;2151	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	2469;2151	ENSP00000272895:C2469Y;ENSP00000374312:C2151Y	ENSP00000272895:C2469Y	C	-	2	0	ABCA12	215515924	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	7.521000	0.81832	2.821000	0.97095	0.650000	0.86243	TGT		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		4	156	0	0	0	1	0	4	156				
COG5	10466	broad.mit.edu	37	7	107002815	107002815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:107002815G>A	ENST00000347053.3	-	9	1029	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	COG5_ENST00000393603.2_Missense_Mutation_p.R327C|COG5_ENST00000297135.3_Missense_Mutation_p.R327C	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	327					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AATGAGGCACGCAAAGCTGCA	0.398																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(979-981)Cgt>Tgt		component of oligomeric golgi complex 5							83.0	81.0	82.0					7																	107002815		2203	4300	6503	SO:0001583	missense	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107002815G>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.979C>T	7.37:g.107002815G>A	ENSP00000334703:p.Arg327Cys					COG5_ENST00000347053.3_Missense_Mutation_p.R327C|COG5_ENST00000297135.3_Missense_Mutation_p.R327C	p.R327C	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			9	1250	-			327					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.979C>T	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682211	0.68042	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.32988	1.43;1.43;1.43	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.62923	-0.6751	10	0.87932	D	0	-12.3955	8.6738	0.34167	0.0696:0.0:0.6723:0.258	.	327;327	Q9UP83;Q9UP83-2	COG5_HUMAN;.	C	327	ENSP00000334703:R327C;ENSP00000297135:R327C;ENSP00000377228:R327C	ENSP00000297135:R327C	R	-	1	0	COG5	106790051	1.000000	0.71417	0.990000	0.47175	0.616000	0.37450	5.822000	0.69265	1.540000	0.49301	0.655000	0.94253	CGT		0.398	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			4	166	0	0	0	1	0	4	166				
SZT2	23334	broad.mit.edu	37	1	43903102	43903102	+	Silent	SNP	C	C	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:43903102C>A	ENST00000562955.1	+	43	6042	c.6042C>A	c.(6040-6042)ctC>ctA	p.L2014L	SZT2_ENST00000372442.1_Silent_p.L1172L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2071					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTCTGTGCTCAATGCCTTCT	0.527																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6040-6042)ctC>ctA		seizure threshold 2 homolog (mouse)							148.0	135.0	140.0					1																	43903102		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43903102C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6042C>A	1.37:g.43903102C>A						SZT2_ENST00000372442.1_Silent_p.L1172L	p.L2014L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			43	6042	+			2071					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.6042C>A	CCDS30694.2																																																																																				0.527	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		9	509	1	0	2.62144e-13	1	2.7924e-13	9	509				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350									leukocyte immunoglobulin-like receptor pseudogene 2																		TACAGATGCTACGGTGCACAC	0.677													.|||	5	0.000998403	0.0	0.0014	5008	,	,		16629	0.003		0.001	False		,,,				2504	0.0				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221570A>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221570A>C														0	1350	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.677	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	242	0	0	0	1	0	5	242				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		11	188	0	0	0	1	0	11	188				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			7	108						7	108	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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			13	36						13	36	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	863						8	863	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)actccc>acc	p.P432del	PRG4_ENST00000367486.3_In_Frame_Del_p.P389del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.P391del|PRG4_ENST00000367485.4_In_Frame_Del_p.P339del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	432	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.655																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1291-1296)acc>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276143_186276145delCTC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1292_1294delCTC	1.37:g.186276143_186276145delCTC	ENSP00000399679:p.Pro432del					PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367484.3_Intron	p.TP431del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1337_1339	+			431			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1292_1294delCTC	CCDS1369.1																																																																																				0.655	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		16	508						16	508	---	---	---	---
ITGB1BP1	9270	broad.mit.edu	37	2	9558806	9558806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:9558806delT	ENST00000360635.3	-	3	917	c.21delA	c.(19-21)aaafs	p.K7fs	ITGB1BP1_ENST00000355346.4_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000456913.2_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000359712.3_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000238091.4_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000488451.1_Frame_Shift_Del_p.K7fs			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	7					activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TACTGTGTCGTTTTTTGCCCT	0.403																																						ENST00000360635.3																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(19-21)aafs		integrin beta 1 binding protein 1							306.0	296.0	300.0					2																	9558806		2203	4300	6503	SO:0001589	frameshift_variant	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9558806delT	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.21delA	2.37:g.9558806delT	ENSP00000353850:p.Lys7fs					ITGB1BP1_ENST00000359712.3_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000355346.4_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000238091.4_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000456913.2_Frame_Shift_Del_p.K7fs	p.K7fs			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	3	917	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		7					D6W4Y9|O14714|Q53RS0	Frame_Shift_Del	DEL	ENST00000360635.3	37	c.21delA	CCDS1662.1																																																																																				0.403	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		7	1002						7	1002	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		7	282						7	282	---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1.0			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		7	230						7	230	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409708.1_In_Frame_Del_p.E110del|EFHD1_ENST00000409613.1_In_Frame_Del_p.E126del|EFHD1_ENST00000410095.1_In_Frame_Del_p.E110del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	222					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(652-657)cgg>cg		EF-hand domain family, member D1																																				SO:0001651	inframe_deletion	80303						calcium ion binding|protein binding	g.chr2:233546363_233546365delGGA		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.654_656delGGA	2.37:g.233546372_233546374delGGA	ENSP00000264059:p.Glu222del					EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del	p.RE218del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1131_1133	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	218					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	In_Frame_Del	DEL	ENST00000264059.3	37	c.654_656delGGA	CCDS2497.1																																																																																				0.547	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		7	384						7	384	---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47889357	47889358	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:47889357_47889358delAT	ENST00000445061.1	+	14	2604_2605	c.2197_2198delAT	c.(2197-2199)attfs	p.I733fs	DHX30_ENST00000446256.2_Frame_Shift_Del_p.I694fs|DHX30_ENST00000348968.4_Frame_Shift_Del_p.I705fs|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Frame_Shift_Del_p.I761fs	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	733	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCCACCAACATTGCTGAGACT	0.535																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2080-2082)tfs		DEAH (Asp-Glu-Ala-His) box helicase 30																																				SO:0001589	frameshift_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889357_47889358delAT	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2197_2198delAT	3.37:g.47889357_47889358delAT	ENSP00000405620:p.Ile733fs					DHX30_ENST00000348968.4_Frame_Shift_Del_p.I705fs|DHX30_ENST00000457607.1_Frame_Shift_Del_p.I761fs|DHX30_ENST00000445061.1_Frame_Shift_Del_p.I733fs	p.I694fs	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2652_2653	+			733			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Frame_Shift_Del	DEL	ENST00000445061.1	37	c.2080_2081delAT	CCDS2759.1																																																																																				0.535	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		20	233						20	233	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	234						7	234	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_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		8	284						8	284	---	---	---	---
IL12A-AS1	101928376	broad.mit.edu	37	3	159820698	159820698	+	RNA	DEL	A	A	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:159820698delA	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TGGAacagtgaaaaaaaaaag	0.279																																						ENST00000497452.1																			0																																																			0							g.chr3:159820698delA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820698delA														0	517	-									RNA	DEL	ENST00000497452.1	37																																																																																						0.279	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			7	33						7	33	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-	rs142849558		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	164	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ACACAGGCCCctgctgctgctgc	0.665																																						ENST00000296327.5																			0											c.(475-480)ccc>cc		solute carrier family 51, alpha subunit				166,4098		0,166,1966						5.5	1.0		dbSNP_134	89	364,7890		0,364,3763	no	coding	OSTalpha	NM_152672.5		0,530,5729	A1A1,A1R,RR		4.41,3.8931,4.2339				530,11988				SO:0001651	inframe_deletion	200931							g.chr3:195955100_195955102delCTG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.477_479delCTG	3.37:g.195955109_195955111delCTG	ENSP00000296327:p.Cys164del						p.PC159del	NM_152672.5	NP_689885.4					5	686_688	+								Q6ZMC7	In_Frame_Del	DEL	ENST00000296327.5	37	c.477_479delCTG	CCDS3314.1																																																																																				0.665	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		14	391						14	391	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77276505	77276505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:77276505delA	ENST00000388914.3	-	14	2410	c.2258delT	c.(2257-2259)ttgfs	p.L753fs	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	753										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGCCTCTTCCAAAAACTGTAT	0.443																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2257-2259)tgfs		coiled-coil domain containing 158							228.0	212.0	217.0					4																	77276505		1926	4142	6068	SO:0001589	frameshift_variant	339965							g.chr4:77276505delA	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2258delT	4.37:g.77276505delA	ENSP00000373566:p.Leu753fs						p.L753fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			14	2410	-			753					Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	c.2258delT	CCDS43242.1																																																																																				0.443	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		7	479						7	479	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-	rs372496848		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del|MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	171						7	171	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		8	296						8	296	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A	rs376893532		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	187						8	187	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32096646	32096646	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:32096646delT	ENST00000375156.3	-	2	1182	c.912delA	c.(910-912)aaafs	p.K304fs	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	304					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CAGCAGTTGCTTTTTCCAGGT	0.587																																						ENST00000375156.3																			0											c.(910-912)aafs		FK506 binding protein like							90.0	96.0	94.0					6																	32096646		2203	4300	6503	SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32096646delT	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.912delA	6.37:g.32096646delT	ENSP00000364298:p.Lys304fs						p.K304fs	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	1182	-			304					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Del	DEL	ENST00000375156.3	37	c.912delA	CCDS4738.1																																																																																				0.587	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			7	663						7	663	---	---	---	---
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-	rs150213018		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584199.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(46-48)del		glycyl-tRNA synthetase	Glycine(DB00145)			181,3387		9,163,1612						-3.2	0.0		dbSNP_134	8	497,6929		13,471,3229	no	coding	GARS	NM_002047.2		22,634,4841	A1A1,A1R,RR		6.6927,5.0729,6.167				678,10316				SO:0001651	inframe_deletion	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30634583_30634585delCTG	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.46_48delCTG	7.37:g.30634592_30634594delCTG	ENSP00000373918:p.Leu20del						p.L20del	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			1	287_289	+			20					B3KQA2|B4DIA0|Q969Y1	In_Frame_Del	DEL	ENST00000389266.3	37	c.46_48delCTG	CCDS43564.1																																																																																				0.749	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		10	97						10	97	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		10	349						10	349	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1012-1017)gaa>ga		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100283635_100283637delTCC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1014_1016delGGA	7.37:g.100283644_100283646delTCC	ENSP00000275732:p.Glu339del					GIGYF1_ENST00000471340.2_Intron	p.EE338del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			9	2223_2225	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		338			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1014_1016delGGA	CCDS34708.1																																																																																				0.675	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	321						7	321	---	---	---	---
TRBV7-7	28591	broad.mit.edu	37	7	142120209	142120210	+	RNA	DEL	TG	TG	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:142120209_142120210delTG	ENST00000390377.1	-	0	49									T cell receptor beta variable 7-7																		cagacacacatgcatacacaca	0.436																																						ENST00000390377.1																			0																																																			0							g.chr7:142120209_142120210delTG	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120209_142120210delTG														0	49	-									RNA	DEL	ENST00000390377.1	37																																																																																						0.436	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		7	253						7	253	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994626	11994627	+	IGR	DEL	GT	GT	-	rs576201574		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:11994626_11994627delGT	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						gtatttgtgcgtgtgtgtgtgt	0.51																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:11994626_11994627delGT	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994636_11994637delGT								NR_027425.1						0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.510	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		8	87						8	87	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		9	249						9	249	---	---	---	---
NEFL	4747	broad.mit.edu	37	8	24811843	24811843	+	RNA	DEL	A	A	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:24811843delA	ENST00000221169.5	-	0	1639				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAATAAAACAAAAAAAAAAT	0.328																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide				13,77,3392		0,0,13,0,77,1651	83.0	77.0	79.0			-0.0	0.0	8		84	21,171,7606		1,0,19,1,169,3709	no	intron	NEFL	NM_006158.3		1,0,32,1,246,5360	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4622,2.5847,2.5			24811843	34,248,10998	1807	4067	5874			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811843delA		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811843delA										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1639	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	DEL	ENST00000221169.5	37																																																																																						0.328	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		12	111						12	111	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214.0	216.0	215.0					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	784						7	784	---	---	---	---
RTKN2	219790	broad.mit.edu	37	10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGTCTCTTCAATTTTTTTTTGT	0.337																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)tgafs		rhotekin 2				11,4247		0,11,2118						4.1	1.0			63	5,8243		0,5,4119	no	frameshift	RTKN2	NM_145307.2		0,16,6237	A1A1,A1R,RR		0.0606,0.2583,0.1279				16,12490				SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958148_63958149insT	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1349dupA	10.37:g.63958157_63958157dupT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs	p.*450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444_1445	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Ins	INS	ENST00000373789.3	37	c.1348_1349insA	CCDS7263.1																																																																																				0.337	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	243						7	243	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		Missing (in FHL2). {ECO:0000269|PubMed:11179007}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD011186|CD080892	PRF1	D		c.(853-855)del		perforin 1 (pore forming protein)																																				SO:0001651	inframe_deletion	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358622_72358624delCTT	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.853_855delAAG	10.37:g.72358631_72358633delCTT	ENSP00000398568:p.Lys285del					PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1013_1015	-			285		Missing (in FHL2).	MACPF.		B2R6X4|Q59F57|Q86WX7	In_Frame_Del	DEL	ENST00000441259.1	37	c.853_855delAAG	CCDS7305.1																																																																																				0.591	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		7	365						7	365	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000224807.5_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000393459.1_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(166-168)gcfs		PDZ domain containing 7							49.0	58.0	55.0					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		7	659						7	659	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|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_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del	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		8	573						8	573	---	---	---	---
GRK5	2869	broad.mit.edu	37	10	121189900	121189900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:121189900delA	ENST00000392870.2	+	7	876	c.547delA	c.(547-549)aaafs	p.K183fs	GRK5_ENST00000369108.3_Frame_Shift_Del_p.K78fs	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	183	N-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACCGGTGACCAAAAACACTTT	0.483																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(547-549)aafs		G protein-coupled receptor kinase 5							146.0	143.0	144.0					10																	121189900		2203	4300	6503	SO:0001589	frameshift_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121189900delA	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.547delA	10.37:g.121189900delA	ENSP00000376609:p.Lys183fs					GRK5_ENST00000369108.3_Frame_Shift_Del_p.K78fs	p.K183fs	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	7	876	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	183			N-terminal.		D3DRD0|Q5T059	Frame_Shift_Del	DEL	ENST00000392870.2	37	c.547delA	CCDS7612.1																																																																																				0.483	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		7	612						7	612	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		11	596						11	596	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			15	573						15	573	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		8	523						8	523	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6422650	6422651	+	Frame_Shift_Del	DEL	CG	CG	-	rs34466697	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:6422650_6422651delCG	ENST00000609360.1	-	11	1611_1612	c.1512_1513delCG	c.(1510-1515)gccgaafs	p.E505fs	APBB1_ENST00000389906.2_Frame_Shift_Del_p.E505fs|APBB1_ENST00000609331.1_Frame_Shift_Del_p.E270fs|APBB1_ENST00000530885.1_Frame_Shift_Del_p.E283fs|APBB1_ENST00000299402.6_Frame_Shift_Del_p.E503fs|APBB1_ENST00000608645.1_Frame_Shift_Del_p.E246fs|APBB1_ENST00000311051.3_Frame_Shift_Del_p.E503fs|APBB1_ENST00000608394.1_Frame_Shift_Del_p.E246fs|APBB1_ENST00000608655.1_Frame_Shift_Del_p.E285fs|APBB1_ENST00000529519.1_Frame_Shift_Del_p.E30fs|APBB1_ENST00000608704.1_Frame_Shift_Del_p.E246fs	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	505	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.A502A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTACGCCGTTCGGCCATGATCT	0.574																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - coding silent(1)	p.A502A(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1510-1515)gcaafs		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001589	frameshift_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422650_6422651delCG	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1512_1513delCG	11.37:g.6422650_6422651delCG	ENSP00000477213:p.Glu505fs					APBB1_ENST00000530885.1_Frame_Shift_Del_p.AE282fs|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000299402.6_Frame_Shift_Del_p.AE502fs|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Frame_Shift_Del_p.AE502fs	p.AE504fs	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	10	1611_1612	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	504			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Frame_Shift_Del	DEL	ENST00000609360.1	37	c.1512_1513delCG																																																																																					0.574	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		12	226						12	226	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:19901475_19901477delAGC	ENST00000396087.3	+	5	671_673	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_ENST00000360655.4_In_Frame_Del_p.Q132del|NAV2_ENST00000396085.1_In_Frame_Del_p.Q196del|NAV2_ENST00000349880.4_In_Frame_Del_p.Q196del|NAV2_ENST00000540292.1_In_Frame_Del_p.Q127del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_In_Frame_Del_p.Q125del	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	196	Gln-rich.				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						TCCCGATACAagcagcagcagca	0.611																																						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.(571-576)aag>a		neuron navigator 2			,,	52,4210		4,44,2083					,,	5.9	1.0			68	58,8184		2,54,4065	no	coding,coding,coding	NAV2	NM_182964.5,NM_145117.4,NM_001111018.1	,,	6,98,6148	A1A1,A1R,RR		0.7037,1.2201,0.8797	,,	,,		110,12394				SO:0001651	inframe_deletion	89797					nucleus	ATP binding|helicase activity	g.chr11:19901475_19901477delAGC	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.572_574delAGC	11.37:g.19901484_19901486delAGC	ENSP00000379396:p.Gln196del					NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del	p.KQ191del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	933_935	+			191			CH.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	In_Frame_Del	DEL	ENST00000396087.3	37	c.572_574delAGC	CCDS58126.1																																																																																				0.611	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	326						9	326	---	---	---	---
MRPL49	740	broad.mit.edu	37	11	64888248	64888250	+	5'Flank	DEL	TCT	TCT	-	rs1065065		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:64888248_64888250delTCT	ENST00000279242.2	+	0	0				FAU_ENST00000279259.3_In_Frame_Del_p.E83del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.K102del|MRPL49_ENST00000531705.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank|MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000525297.1_In_Frame_Del_p.K67del|FAU_ENST00000531743.1_In_Frame_Del_p.K102del|FAU_ENST00000529639.1_In_Frame_Del_p.K102del	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCCCGACCTGTCTTCTTCTTCTT	0.542																																						ENST00000529639.1																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(304-309)aca>a		Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed																																				SO:0001631	upstream_gene_variant	2197							g.chr11:64888248_64888250delTCT		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888257_64888259delTCT	Exception_encountered					FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del	p.KT102del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN			5	696_698	-			0					B2R4G6	In_Frame_Del	DEL	ENST00000279242.2	37	c.305_307delAGA	CCDS8096.1																																																																																				0.542	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		7	550						7	550	---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000264020.2_In_Frame_Del_p.D92del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		7	323						7	323	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000542912.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	11	60						11	60	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20833140	20833142	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:20833140_20833142delGAA	ENST00000359062.3	+	16	3401_3403	c.3361_3363delGAA	c.(3361-3363)gaadel	p.E1125del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1125	Poly-Glu.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGCTATCAAGGAAGAAGAAGAAG	0.478																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3361-3363)del		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)																																			SO:0001651	inframe_deletion	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833140_20833142delGAA		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3361_3363delGAA	12.37:g.20833149_20833151delGAA	ENSP00000351957:p.Glu1125del					PDE3A_ENST00000544307.1_3'UTR	p.E1125del	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3401_3403	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1125			Poly-Glu.		O60865|Q13348|Q17RD1	In_Frame_Del	DEL	ENST00000359062.3	37	c.3361_3363delGAA	CCDS31754.1																																																																																				0.478	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			8	294						8	294	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138.0	135.0	136.0					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		7	276						7	276	---	---	---	---
CBX5	23468	broad.mit.edu	37	12	54645832	54645832	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:54645832delT	ENST00000439541.2	-	3	442	c.317delA	c.(316-318)aagfs	p.K106fs	CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs|CBX5_ENST00000209875.4_Frame_Shift_Del_p.K106fs	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	106					blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TACCTCTCTCTTTTTTTTAGA	0.323																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(316-318)agfs		chromobox homolog 5							142.0	148.0	146.0					12																	54645832		2203	4300	6503	SO:0001589	frameshift_variant	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54645832delT	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.317delA	12.37:g.54645832delT	ENSP00000401009:p.Lys106fs					CBX5_ENST00000439541.2_Frame_Shift_Del_p.K106fs|CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs	p.K106fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			3	453	-			106					B2R8T9	Frame_Shift_Del	DEL	ENST00000439541.2	37	c.317delA	CCDS8875.1																																																																																				0.323	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		8	592						8	592	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3367-3369)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA	p.P1123del			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3381_3383	-			1092	HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).		Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3367_3369delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	145						7	145	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-	rs371570689		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.F335fs*19(1)		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)		TGGTCGCAGCAAAGGGTTTGG	0.428																																						ENST00000281589.3																			1	Deletion - Frameshift(1)	p.F335fs*19(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(997-999)aafs		poly(A) binding protein, cytoplasmic 3							162.0	159.0	160.0					13																	25671333		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671333delA	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.997delA	13.37:g.25671333delA	ENSP00000281589:p.Lys333fs						p.K333fs	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	1034	+		Lung SC(185;0.0225)|Breast(139;0.0602)	333			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.997delA	CCDS9311.1																																																																																				0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		9	610						9	610	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		9	430						9	430	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514603	75514604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:75514603_75514604insT	ENST00000556740.1	-	1	1790_1791	c.1755_1756insA	c.(1753-1758)aaagaafs	p.E586fs	MLH3_ENST00000355774.2_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	586					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTGCTAGATTCTTTTTTTTTCT	0.356								Mismatch excision repair (MMR)																														ENST00000355774.2																			3	Deletion - In frame(2)|Substitution - Nonsense(1)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)	breast(2)|large_intestine(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1753-1758)aaaatcfs	Mismatch excision repair (MMR)	mutL homolog 3																																				SO:0001589	frameshift_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514603_75514604insT	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1756dupA	14.37:g.75514612_75514612dupT	ENSP00000452316:p.Glu586fs					MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs	p.I586fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1970_1971	-			586					P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Ins	INS	ENST00000556740.1	37	c.1755_1756insA	CCDS32123.1																																																																																				0.356	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		7	323						7	323	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100367334	100367334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:100367334delT	ENST00000262233.6	+	9	1105	c.966delT	c.(964-966)ggtfs	p.G322fs	EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	322	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTGGAATAGGTTTTTTTGACC	0.428																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(964-966)ggfs		echinoderm microtubule associated protein like 1							311.0	270.0	284.0					14																	100367334		2203	4300	6503	SO:0001589	frameshift_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100367334delT	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.966delT	14.37:g.100367334delT	ENSP00000262233:p.Gly322fs					EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs	p.G322fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			9	1105	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	322					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Frame_Shift_Del	DEL	ENST00000262233.6	37	c.966delT	CCDS32155.1																																																																																				0.428	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		7	437						7	437	---	---	---	---
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1666-1668)ggtfs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs	p.G556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1778_1779	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		7	314						7	314	---	---	---	---
IGHV3-11	28450	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432|rs367875175	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		ATATGGTACTACCACTACTACTA	0.522																																						ENST00000390601.2																			0																																																			0							g.chr14:106573362_106573364delACC	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573362_106573364delACC														0	339_341	-									RNA	DEL	ENST00000390601.2	37																																																																																						0.522	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		9	973						9	973	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-	rs572079359	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:23299147delA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		ACATTCAAAGAAAAAAAAAAA	0.313													|||unknown(HR)	437	0.0872604	0.1884	0.1182	5008	,	,		18000	0.0308		0.0268	False		,,,				2504	0.0491					ENST00000560464.1																			0																																																			0							g.chr15:23299147delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299147delA														0	4510	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.313	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			7	33						7	33	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85115422	85115423	+	RNA	INS	-	-	TT	rs60884952		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:85115422_85115423insTT	ENST00000339094.1	-	0	0				LINC00933_ENST00000557887.1_RNA	NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		ACATAATGCTCttttttttttt	0.391																																						ENST00000557887.1																			0																																																			0							g.chr15:85115422_85115423insTT			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85115431_85115432dupTT								NR_038273.1|NR_038274.1						0	0_1	+									RNA	INS	ENST00000339094.1	37																																																																																						0.391	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		8	29						8	29	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		9	563						9	563	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		14	1076						14	1076	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	577						7	577	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	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		8	202						8	202	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			11	133						11	133	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356310	77356311	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:77356310_77356311insA	ENST00000282849.5	-	14	2503_2504	c.2085_2086insT	c.(2083-2088)tttgcafs	p.A696fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	696	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						CCGGACATTGCAAAAAAAAATT	0.406																																						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.(2083-2088)ttcaatfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18																																				SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356310_77356311insA	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.2086dupT	16.37:g.77356319_77356319dupA	ENSP00000282849:p.Ala696fs						p.N696fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503_2504	-			696			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Ins	INS	ENST00000282849.5	37	c.2085_2086insT	CCDS10926.1																																																																																				0.406	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			9	368						9	368	---	---	---	---
ATMIN	23300	broad.mit.edu	37	16	81077602	81077624	+	Frame_Shift_Del	DEL	GTCCAACGGATGACCATGTACAG	GTCCAACGGATGACCATGTACAG	-	rs145397957|rs537068234		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:81077602_81077624delGTCCAACGGATGACCATGTACAG	ENST00000299575.4	+	4	1523_1545	c.1499_1521delGTCCAACGGATGACCATGTACAG	c.(1498-1521)agtccaacggatgaccatgtacagfs	p.SPTDDHVQ500fs	ATMIN_ENST00000566488.1_Frame_Shift_Del_p.SPTDDHVQ344fs|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.SPTDDHVQ344fs	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	500					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.S500N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GGGATAGAAAGTCCAACGGATGACCATGTACAGATGGACCAAG	0.426																																						ENST00000566488.1																			1	Substitution - Missense(1)	p.S500N(1)	kidney(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1030-1053)afs		ATM interactor																																				SO:0001589	frameshift_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077602_81077624delGTCCAACGGATGACCATGTACAG	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1499_1521delGTCCAACGGATGACCATGTACAG	16.37:g.81077602_81077624delGTCCAACGGATGACCATGTACAG	ENSP00000299575:p.Ser500fs					ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.SPTDDHVQ344fs|ATMIN_ENST00000299575.4_Frame_Shift_Del_p.SPTDDHVQ500fs	p.SPTDDHVQ344fs			O43313	ATMIN_HUMAN			3	1994_2016	+			500			Required for formation of RAD51 foci.		A8K4H8|Q68DC9	Frame_Shift_Del	DEL	ENST00000299575.4	37	c.1031_1053delGTCCAACGGATGACCATGTACAG	CCDS32494.1																																																																																				0.426	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		14	260						14	260	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	138						7	138	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.Q29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(85-90)ccg>c		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620990_27620992delGCT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.86_88delAGC	17.37:g.27620999_27621001delGCT	ENSP00000225388:p.Gln29del					NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	144_146	-			29			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.86_88delAGC	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		8	323						8	323	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	649						7	649	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:56387404_56387406delTCC	ENST00000343736.4	-	21	3976_3978	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_ENST00000268893.6_In_Frame_Del_p.1211_1212EE>E|BZRAP1_ENST00000355701.3_In_Frame_Del_p.1271_1272EE>E			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1271	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3811-3816)gaa>ga		benzodiazapine receptor (peripheral) associated protein 1			,	10,0,4254		4,0,2,0,0,2126					,	-7.0	0.1			91	24,2,8228		10,0,4,0,2,4111	no	codingComplex,codingComplex	BZRAP1	NM_024418.1,NM_004758.2	,	14,0,6,0,2,6237	A1A1,A1A2,A1R,A2A2,A2R,RR		0.315,0.2345,0.2876	,	,		34,2,12482				SO:0001651	inframe_deletion	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387404_56387406delTCC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3813_3815delGGA	17.37:g.56387413_56387415delTCC	ENSP00000345824:p.Glu1274del					BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del	p.EE1273del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			21	4683_4685	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1273			Poly-Glu.		O75111|Q8N5W3	In_Frame_Del	DEL	ENST00000343736.4	37	c.3813_3815delGGA	CCDS11605.1																																																																																				0.586	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		10	339						10	339	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T	rs370244500		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.460	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		7	665						7	665	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	CTG	-	rs527645784	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr18:47812275_47812277delCTG	ENST00000285106.6	-	5	1195_1197	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557														27	0.00539137	0.0151	0.0	5008	,	,		19878	0.0		0.0	False		,,,				2504	0.0072					ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(481-483)del		CXXC finger protein 1																																				SO:0001651	inframe_deletion	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812275_47812277delCTG	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.481_483delCAG	18.37:g.47812284_47812286delCTG	ENSP00000285106:p.Gln161del					CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del	p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			5	1195_1197	-			161					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	In_Frame_Del	DEL	ENST00000285106.6	37	c.481_483delCAG	CCDS11945.1																																																																																				0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		8	180						8	180	---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-	rs371220154		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|AC005943.5_ENST00000588960.1_lincRNA	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		10	192						10	192	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		7	236						7	236	---	---	---	---
APMAP	57136	broad.mit.edu	37	20	24954286	24954286	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:24954286delG	ENST00000217456.2	-	4	706	c.416delC	c.(415-417)cctfs	p.P139fs	RNU6-1257P_ENST00000384625.1_RNA|APMAP_ENST00000447138.1_Frame_Shift_Del_p.P139fs	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	139					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										CTTACTGCAAGGGCCCGAACC	0.458																																						ENST00000217456.2																			0											c.(415-417)ctfs		adipocyte plasma membrane associated protein							101.0	86.0	91.0					20																	24954286		2203	4300	6503	SO:0001589	frameshift_variant	57136							g.chr20:24954286delG	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.416delC	20.37:g.24954286delG	ENSP00000217456:p.Pro139fs					APMAP_ENST00000447138.1_Frame_Shift_Del_p.P139fs	p.P139fs	NM_020531.2	NP_065392.1					4	706	-								A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Frame_Shift_Del	DEL	ENST00000217456.2	37	c.416delC	CCDS13166.1																																																																																				0.458	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		10	162						10	162	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	332						8	332	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		8	131						8	131	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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		8	523						8	523	---	---	---	---
BRCC3	79184	broad.mit.edu	37	X	154348377	154348379	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:154348377_154348379delACA	ENST00000369462.1	+	11	928_930	c.903_905delACA	c.(901-906)ttacaa>tta	p.Q303del	BRCC3_ENST00000340647.4_In_Frame_Del_p.Q279del|BRCC3_ENST00000399042.1_In_Frame_Del_p.Q304del|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_In_Frame_Del_p.Q234del|BRCC3_ENST00000330045.7_In_Frame_Del_p.Q278del	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	303					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCAGGAATTACAACAAGAAAAG	0.414																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(901-906)tta>tt		BRCA1/BRCA2-containing complex, subunit 3																																				SO:0001651	inframe_deletion	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154348377_154348379delACA	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.903_905delACA	X.37:g.154348380_154348382delACA	ENSP00000358474:p.Gln303del					MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_In_Frame_Del_p.LQ232del|BRCC3_ENST00000330045.7_In_Frame_Del_p.LQ276del|BRCC3_ENST00000399042.1_In_Frame_Del_p.LQ302del|BRCC3_ENST00000340647.4_In_Frame_Del_p.LQ277del	p.LQ301del	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			11	928_930	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		301					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	In_Frame_Del	DEL	ENST00000369462.1	37	c.903_905delACA	CCDS56611.1																																																																																				0.414	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		8	196						8	196	---	---	---	---
