#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
TRPA1	8989	broad.mit.edu	37	8	72967934	72967934	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr8:72967934G>T	ENST00000262209.4	-	11	1558	c.1351C>A	c.(1351-1353)Cat>Aat	p.H451N	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	451					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTGCAAAATGCAGAGGTGAT	0.373																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1351-1353)Cat>Aat		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						46.0	45.0	45.0					8																	72967934		2203	4299	6502	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72967934G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1351C>A	8.37:g.72967934G>T	ENSP00000262209:p.His451Asn					RP11-383H13.1_ENST00000457356.4_3'UTR	p.H451N	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		11	1558	-			451					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1351C>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261431	0.80358	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71341	-0.56;-0.56	5.4	5.4	0.78164	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86569	0.1846	10	0.72032	D	0.01	-23.9224	19.1513	0.93491	0.0:0.0:1.0:0.0	.	451	O75762	TRPA1_HUMAN	N	303;451	ENSP00000428151:H303N;ENSP00000262209:H451N	ENSP00000262209:H451N	H	-	1	0	TRPA1	73130488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.604000	0.90877	2.521000	0.84997	0.650000	0.86243	CAT		0.373	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		12	55	1	0	3.07112e-06	1	3.33436e-06	12	55				
CLCN1	1180	broad.mit.edu	37	7	143029831	143029831	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr7:143029831A>C	ENST00000343257.2	+	12	1353	c.1266A>C	c.(1264-1266)gaA>gaC	p.E422D		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	422					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGCCCCGCGAAGCCATCAGTA	0.527																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1264-1266)gaA>gaC		chloride channel, voltage-sensitive 1							172.0	163.0	166.0					7																	143029831		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143029831A>C	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1266A>C	7.37:g.143029831A>C	ENSP00000339867:p.Glu422Asp						p.E422D	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			12	1353	+	Melanoma(164;0.205)		422					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1266A>C	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035299	0.54896	.	.	ENSG00000188037	ENST00000343257	D	0.93133	-3.17	5.36	2.97	0.34412	Chloride channel, core (2);	0.097447	0.64402	D	0.000001	D	0.94427	0.8207	L	0.58354	1.805	0.42968	D	0.994428	D	0.89917	1.0	D	0.75020	0.985	D	0.91805	0.5455	10	0.36615	T	0.2	.	8.3804	0.32468	0.7868:0.0:0.2132:0.0	.	422	P35523	CLCN1_HUMAN	D	422	ENSP00000339867:E422D	ENSP00000339867:E422D	E	+	3	2	CLCN1	142739953	1.000000	0.71417	0.997000	0.53966	0.531000	0.34715	4.256000	0.58810	0.433000	0.26313	-0.938000	0.02693	GAA		0.527	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		73	92	0	0	0	1	0	73	92				
PARK2	5071	broad.mit.edu	37	6	162622178	162622178	+	Silent	SNP	C	C	T			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr6:162622178C>T	ENST00000366898.1	-	4	621	c.519G>A	c.(517-519)acG>acA	p.T173T	PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Silent_p.T173T|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366892.1_Silent_p.T173T|PARK2_ENST00000366896.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	173					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCAAGGTGAGCGTTGCCTGCC	0.463																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(517-519)acG>acA		parkin RBR E3 ubiquitin protein ligase							116.0	103.0	107.0					6																	162622178		2203	4300	6503	SO:0001819	synonymous_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622178C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.519G>A	6.37:g.162622178C>T						PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366892.1_Silent_p.T173T|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Silent_p.T173T	p.T173T	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	621	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	173					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	c.519G>A	CCDS5281.1																																																																																				0.463	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			23	45	0	0	0	1	0	23	45				
KRTAP1-3	81850	broad.mit.edu	37	17	39190675	39190675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr17:39190675G>T	ENST00000344363.5	-	1	432	c.399C>A	c.(397-399)tgC>tgA	p.C133*		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	143						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGCAGCAGGTTGGGG	0.672																																						ENST00000344363.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(397-399)tgC>tgA		keratin associated protein 1-3							27.0	34.0	31.0					17																	39190675		2083	4195	6278	SO:0001587	stop_gained	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190675G>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.399C>A	17.37:g.39190675G>T	ENSP00000344420:p.Cys133*						p.C133*	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	432	-		Breast(137;0.000496)	143					Q07628|Q8IUG0|Q9BYS2	Nonsense_Mutation	SNP	ENST00000344363.5	37	c.399C>A	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601843	0.87055	.	.	ENSG00000221880	ENST00000344363	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4537	0.61187	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000344420:C133X	C	-	3	2	KRTAP1-3	36444201	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.823000	0.48081	2.435000	0.82474	0.643000	0.83706	TGC		0.672	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			11	25	1	0	3.86212e-05	1	4.07668e-05	11	25				
FLVCR1	28982	broad.mit.edu	37	1	213032441	213032441	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:213032441T>G	ENST00000366971.4	+	1	845	c.647T>G	c.(646-648)tTc>tGc	p.F216C	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	216					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GCCCAGGTGTTCATCCTGGGC	0.607																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(646-648)tTc>tGc		feline leukemia virus subgroup C cellular receptor 1							69.0	60.0	63.0					1																	213032441		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032441T>G	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.647T>G	1.37:g.213032441T>G	ENSP00000355938:p.Phe216Cys						p.F216C	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	845	+			216					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.647T>G	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.452338|4.452338	0.84209|0.84209	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	D|.	0.95377|.	-3.69|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83982|0.83982	0.5372|0.5372	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	P|.	0.45126|.	0.851|.	P|.	0.59357|.	0.856|.	D|D	0.87641|0.87641	0.2522|0.2522	10|5	0.62326|.	D|.	0.03|.	-49.4437|-49.4437	14.7855|14.7855	0.69800|0.69800	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	216|.	Q9Y5Y0|.	FLVC1_HUMAN|.	C|A	216|62	ENSP00000355938:F216C|.	ENSP00000355938:F216C|.	F|S	+|+	2|1	0|0	FLVCR1|FLVCR1	211099064|211099064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.639000|7.639000	0.83342|0.83342	2.087000|2.087000	0.62958|0.62958	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.607	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		21	21	0	0	0	1	0	21	21				
DAO	1610	broad.mit.edu	37	12	109288095	109288095	+	Silent	SNP	G	G	A	rs370764819		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr12:109288095G>A	ENST00000228476.3	+	7	768	c.564G>A	c.(562-564)gcG>gcA	p.A188A	DAO_ENST00000551281.1_Silent_p.A122A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	188					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GGGCTGGGGCGCTACAACGAG	0.572																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(562-564)gcG>gcA		D-amino-acid oxidase		G		0,4406		0,0,2203	70.0	55.0	60.0		564	-11.0	0.0	12		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DAO	NM_001917.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		188/348	109288095	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109288095G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.564G>A	12.37:g.109288095G>A						DAO_ENST00000551281.1_Silent_p.A122A	p.A188A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			7	768	+			188					B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	c.564G>A	CCDS9122.1																																																																																				0.572	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			6	15	0	0	0	1	0	6	15				
AK8	158067	broad.mit.edu	37	9	135698626	135698626	+	Silent	SNP	G	G	T	rs199788199		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr9:135698626G>T	ENST00000298545.3	-	9	1376	c.855C>A	c.(853-855)gcC>gcA	p.A285A	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	285	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CCAGGAGGGCGGCCTGCAGAC	0.627																																						ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(853-855)gcC>gcA		adenylate kinase 8							101.0	109.0	106.0					9																	135698626		2203	4300	6503	SO:0001819	synonymous_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135698626G>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.855C>A	9.37:g.135698626G>T						AK8_ENST00000477396.1_5'UTR	p.A285A	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			9	1376	-			285			Adenylate kinase.		A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	c.855C>A	CCDS6954.1																																																																																				0.627	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		4	127	1	0	0.150653	1	0.150653	4	127				
EIF3C	8663	broad.mit.edu	37	16	28734595	28734595	+	Missense_Mutation	SNP	A	A	G	rs369740611		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr16:28734595A>G	ENST00000331666.6	+	9	1073	c.887A>G	c.(886-888)aAt>aGt	p.N296S	EIF3C_ENST00000566866.1_Missense_Mutation_p.N296S|EIF3C_ENST00000566501.1_Missense_Mutation_p.N296S|EIF3C_ENST00000564243.1_Missense_Mutation_p.N286S|EIF3C_ENST00000395587.1_Missense_Mutation_p.N296S					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GAGGAGGACAATGAAGGCGGG	0.532																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(886-888)aAt>aGt		eukaryotic translation initiation factor 3, subunit C		A	SER/ASN,SER/ASN,SER/ASN	0,4394		0,0,2197	484.0	529.0	514.0		887,887,887	4.0	1.0	16		514	1,8599		0,1,4299	no	missense,missense,missense	EIF3C	NM_003752.3,NM_001199142.1,NM_001037808.1	46,46,46	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	296/914,296/914,296/914	28734595	1,12993	2197	4300	6497	SO:0001583	missense	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734595A>G	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.887A>G	16.37:g.28734595A>G	ENSP00000332604:p.Asn296Ser					EIF3C_ENST00000566866.1_Missense_Mutation_p.N296S|EIF3C_ENST00000564243.1_Missense_Mutation_p.N286S|EIF3C_ENST00000395587.1_Missense_Mutation_p.N296S|EIF3C_ENST00000566501.1_Missense_Mutation_p.N296S	p.N296S			Q99613	EIF3C_HUMAN			9	1073	+			296						Missense_Mutation	SNP	ENST00000331666.6	37	c.887A>G	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.050570	0.36181	0.0	1.16E-4	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985;ENST00000395583;ENST00000454461	.	.	.	3.95	3.95	0.45737	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.290400	0.33753	N	0.004583	T	0.44350	0.1289	L	0.29908	0.895	0.40277	D	0.978359	B;B;B	0.20052	0.041;0.022;0.041	B;B;B	0.22753	0.041;0.006;0.041	T	0.42932	-0.9422	9	0.42905	T	0.14	.	10.7776	0.46358	1.0:0.0:0.0:0.0	.	286;82;296	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	S	296;296;281;144;118	.	ENSP00000332604:N296S	N	+	2	0	EIF3C	28642096	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.781000	0.55394	1.802000	0.52723	0.367000	0.22151	AAT		0.532	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		144	556	0	0	0	1	0	144	556				
FANCD2	2177	broad.mit.edu	37	3	10107082	10107082	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr3:10107082G>A	ENST00000419585.1	+	24	2334	c.2173G>A	c.(2173-2175)Gtg>Atg	p.V725M	FANCD2_ENST00000383806.1_Missense_Mutation_p.V725M|FANCD2_ENST00000287647.3_Missense_Mutation_p.V725M|FANCD2_ENST00000383807.1_Missense_Mutation_p.V725M			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	725					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCTCAGATTGGTGTCTCCGCT	0.438			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2173-2175)Gtg>Atg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							153.0	150.0	151.0					3																	10107082		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107082G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2173G>A	3.37:g.10107082G>A	ENSP00000398754:p.Val725Met					FANCD2_ENST00000383806.1_Missense_Mutation_p.V725M|FANCD2_ENST00000419585.1_Missense_Mutation_p.V725M|FANCD2_ENST00000383807.1_Missense_Mutation_p.V725M	p.V725M	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	24	2266	+			725					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2173G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774527	0.49786	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.53	2.67	0.31697	.	0.112095	0.64402	N	0.000011	T	0.48926	0.1527	L	0.52759	1.655	0.32209	N	0.576755	D;D	0.57257	0.979;0.979	P;P	0.49252	0.604;0.604	T	0.56938	-0.7896	10	0.44086	T	0.13	.	6.5565	0.22464	0.1699:0.1493:0.6809:0.0	.	725;725	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	M	725	ENSP00000287647:V725M;ENSP00000373318:V725M;ENSP00000373317:V725M;ENSP00000398754:V725M	ENSP00000287647:V725M	V	+	1	0	FANCD2	10082082	1.000000	0.71417	0.948000	0.38648	0.481000	0.33189	3.479000	0.53165	0.269000	0.21961	0.585000	0.79938	GTG		0.438	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			28	56	0	0	0	1	0	28	56				
ZFPM2	23414	broad.mit.edu	37	8	106813675	106813675	+	Silent	SNP	G	G	A			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr8:106813675G>A	ENST00000407775.2	+	8	1615	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.E323E|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.E323E|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.E186E	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	455					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAGACCAGAGATACAGCCTA	0.443																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1363-1365)gaG>gaA		zinc finger protein, FOG family member 2							65.0	70.0	69.0					8																	106813675		1876	4108	5984	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813675G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1365G>A	8.37:g.106813675G>A						RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.E323E|ZFPM2_ENST00000517361.1_Silent_p.E323E|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.E186E	p.E455E	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1615	+			455					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.1365G>A	CCDS47908.1																																																																																				0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			19	31	0	0	0	1	0	19	31				
NRAP	4892	broad.mit.edu	37	10	115391645	115391645	+	Missense_Mutation	SNP	C	C	T	rs200797026	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr10:115391645C>T	ENST00000359988.3	-	17	1955	c.1711G>A	c.(1711-1713)Gcc>Acc	p.A571T	NRAP_ENST00000360478.3_Missense_Mutation_p.A536T|NRAP_ENST00000369360.3_Missense_Mutation_p.A536T|NRAP_ENST00000369358.4_Missense_Mutation_p.A571T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.A571T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GAGGCTTTGGCGGCCAGCAGA	0.453													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18064	0.0		0.0	False		,,,				2504	0.0					ENST00000369358.4																			2	Substitution - Missense(2)	p.A571T(2)	kidney(1)|endometrium(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1711-1713)Gcc>Acc		nebulin-related anchoring protein		C	THR/ALA,THR/ALA	0,4406		0,0,2203	150.0	139.0	143.0		1606,1711	5.6	1.0	10		143	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	536/1696,571/1731	115391645	2,13004	2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115391645C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1711G>A	10.37:g.115391645C>T	ENSP00000353078:p.Ala571Thr					NRAP_ENST00000359988.3_Missense_Mutation_p.A571T|NRAP_ENST00000369360.3_Missense_Mutation_p.A536T|NRAP_ENST00000360478.3_Missense_Mutation_p.A536T	p.A571T			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	17	1955	-		Colorectal(252;0.0233)|Breast(234;0.188)	571						Missense_Mutation	SNP	ENST00000359988.3	37	c.1711G>A	CCDS7579.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	33	5.280809	0.95489	0.0	2.33E-4	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.68765	2.2;2.16;-0.35;-0.35	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.85822	0.5786	M	0.90425	3.115	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.87413	0.2377	10	0.54805	T	0.06	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	571;536;571	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	T	571;536;571;536;300;300	ENSP00000358365:A571T;ENSP00000358367:A536T;ENSP00000353078:A571T;ENSP00000353666:A536T	ENSP00000353078:A571T	A	-	1	0	NRAP	115381635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.547000	0.67249	2.614000	0.88457	0.585000	0.79938	GCC		0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		4	112	0	0	0	1	0	4	112				
IL1A	3552	broad.mit.edu	37	2	113539246	113539246	+	Missense_Mutation	SNP	C	C	T	rs3783531	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr2:113539246C>T	ENST00000263339.3	-	4	409	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	85			R -> Q (in dbSNP:rs3783531). {ECO:0000269|Ref.10}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TAAACTCAACCGTCTCTTCTT	0.453													C|||	3	0.000599042	0.0	0.0014	5008	,	,		23078	0.0		0.002	False		,,,				2504	0.0					ENST00000263339.3																			0				breast(2)|large_intestine(1)|lung(9)	12						c.(253-255)cGg>cAg		interleukin 1, alpha		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	230.0	211.0	217.0		254	4.9	0.1	2	dbSNP_107	217	23,8577	16.6+/-54.9	0,23,4277	yes	missense	IL1A	NM_000575.3	43	0,25,6478	TT,TC,CC		0.2674,0.0454,0.1922	probably-damaging	85/272	113539246	25,12981	2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113539246C>T	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.254G>A	2.37:g.113539246C>T	ENSP00000263339:p.Arg85Gln						p.R85Q	NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN			4	409	-			85		R -> Q (in dbSNP:rs3783531).			Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.254G>A	CCDS2101.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	19.02	3.745767	0.69418	4.54E-4	0.002674	ENSG00000115008	ENST00000263339	T	0.47177	0.85	5.78	4.88	0.63580	Interleukin-1 propeptide (1);	0.000000	0.52532	D	0.000061	T	0.66742	0.2820	M	0.80847	2.515	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.60672	-0.7217	10	0.27082	T	0.32	-17.4428	12.36	0.55197	0.1687:0.8313:0.0:0.0	rs3783531;rs3783531	85	P01583	IL1A_HUMAN	Q	85	ENSP00000263339:R85Q	ENSP00000263339:R85Q	R	-	2	0	IL1A	113255717	0.053000	0.20554	0.081000	0.20488	0.602000	0.36980	3.439000	0.52878	1.543000	0.49345	0.655000	0.94253	CGG		0.453	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		5	194	0	0	0	1	0	5	194				
PLXNA1	5361	broad.mit.edu	37	3	126748827	126748827	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr3:126748827G>A	ENST00000393409.2	+	27	4981	c.4981G>A	c.(4981-4983)Gac>Aac	p.D1661N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1638N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1661					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAAGAACCACGACCACCTGGA	0.667																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4912-4914)Gac>Aac		plexin A1							102.0	101.0	101.0					3																	126748827		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748827G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4981G>A	3.37:g.126748827G>A	ENSP00000377061:p.Asp1661Asn					PLXNA1_ENST00000393409.2_Missense_Mutation_p.D1661N	p.D1638N			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	27	4981	+			1661						Missense_Mutation	SNP	ENST00000393409.2	37	c.4912G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206732	0.79127	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.15139	2.45;2.45	3.71	3.71	0.42584	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000004	T	0.42877	0.1222	M	0.79614	2.46	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.969;0.977	T	0.51787	-0.8661	10	0.87932	D	0	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	275;1661	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	N	1661;1638	ENSP00000377061:D1661N;ENSP00000251772:D1638N	ENSP00000251772:D1638N	D	+	1	0	PLXNA1	128231517	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	9.572000	0.98179	2.069000	0.61940	0.313000	0.20887	GAC		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		35	46	0	0	0	1	0	35	46				
MRPL52	122704	broad.mit.edu	37	14	23299461	23299461	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr14:23299461C>T	ENST00000355151.5	+	3	185	c.155C>T	c.(154-156)gCg>gTg	p.A52V	MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000397496.3_Missense_Mutation_p.A51V|MRPL52_ENST00000432849.3_Missense_Mutation_p.A51V|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000397505.2_Missense_Mutation_p.A52V|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000557221.1_Missense_Mutation_p.R2W|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	52					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGTCATATGCGGGTAAGCGC	0.602																																						ENST00000355151.5																			0											c.(154-156)gCg>gTg		mitochondrial ribosomal protein L52							52.0	62.0	58.0					14																	23299461		2203	4300	6503	SO:0001583	missense	122704				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr14:23299461C>T	AK000450	CCDS9575.1, CCDS9576.1, CCDS41917.1, CCDS41918.1	14q11.2	2012-09-13			ENSG00000172590	ENSG00000172590		"""Mitochondrial ribosomal proteins / large subunits"""	16655	protein-coding gene	gene with protein product		611856				11551941, 11943462	Standard	NM_178336		Approved		uc001wgw.4	Q86TS9	OTTHUMG00000028703	ENST00000355151.5:c.155C>T	14.37:g.23299461C>T	ENSP00000347277:p.Ala52Val					MRPL52_ENST00000432849.3_Missense_Mutation_p.A51V|MRPL52_ENST00000557221.1_Missense_Mutation_p.R2W|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000397505.2_Missense_Mutation_p.A52V|MRPL52_ENST00000397496.3_Missense_Mutation_p.A51V	p.A52V	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	3	185	+	all_cancers(95;9.47e-05)		52					A6NMQ8|A8MXK5|A8MYI6|G3XCN9|Q6NVH8	Missense_Mutation	SNP	ENST00000355151.5	37	c.155C>T	CCDS41917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.68|18.68	3.675720|3.675720	0.67928|0.67928	.|.	.|.	ENSG00000172590|ENSG00000172590	ENST00000355151;ENST00000397496;ENST00000432849;ENST00000556465;ENST00000397505|ENST00000557221	T;T;T;T;T|T	0.25414|0.44881	1.8;1.8;1.8;1.8;1.8|0.91	5.29|5.29	4.4|4.4	0.53042|0.53042	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.42487|0.42487	1.325|1.325	0.80722|0.80722	D|D	1|1	B;D;P|.	0.67145|.	0.35;0.996;0.927|.	B;P;B|.	0.55508|.	0.067;0.777;0.279|.	T|T	0.21552|0.21552	-1.0242|-1.0242	10|6	0.48119|.	T|.	0.1|.	-13.6382|-13.6382	9.7828|9.7828	0.40658|0.40658	0.0:0.9078:0.0:0.0922|0.0:0.9078:0.0:0.0922	.|.	52;51;52|.	A8MXK5;G3XCN9;Q86TS9|.	.;.;RM52_HUMAN|.	V|W	52;51;51;51;52|2	ENSP00000347277:A52V;ENSP00000380633:A51V;ENSP00000406655:A51V;ENSP00000451832:A51V;ENSP00000380642:A52V|ENSP00000451436:R2W	ENSP00000310762:A52V|.	A|R	+|+	2|1	0|2	MRPL52|MRPL52	22369301|22369301	0.991000|0.991000	0.36638|0.36638	0.686000|0.686000	0.30086|0.30086	0.015000|0.015000	0.08874|0.08874	2.047000|2.047000	0.41269|0.41269	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.602	MRPL52-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071657.4	NM_180982		4	107	0	0	0	1	0	4	107				
FAM83B	222584	broad.mit.edu	37	6	54806426	54806426	+	Missense_Mutation	SNP	C	C	A	rs147144028		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr6:54806426C>A	ENST00000306858.7	+	5	2773	c.2657C>A	c.(2656-2658)gCc>gAc	p.A886D	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	886										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATGCCTCTGCCCCAAGATTT	0.448																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2656-2658)gCc>gAc		family with sequence similarity 83, member B							74.0	71.0	72.0					6																	54806426		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806426C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2657C>A	6.37:g.54806426C>A	ENSP00000304078:p.Ala886Asp						p.A886D	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2773	+	Lung NSC(77;0.0178)|Renal(3;0.122)		886					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2657C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493673	0.64186	.	.	ENSG00000168143	ENST00000306858	T	0.32753	1.44	5.63	4.76	0.60689	.	0.156215	0.44285	D	0.000467	T	0.30854	0.0778	M	0.67953	2.075	0.45378	D	0.998367	D	0.56035	0.974	P	0.49752	0.621	T	0.19289	-1.0310	10	0.66056	D	0.02	-9.7126	14.5184	0.67835	0.0:0.9296:0.0:0.0704	.	886	Q5T0W9	FA83B_HUMAN	D	886	ENSP00000304078:A886D	ENSP00000304078:A886D	A	+	2	0	FAM83B	54914385	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.195000	0.58400	1.387000	0.46486	0.655000	0.94253	GCC		0.448	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		31	35	1	0	5.90632e-09	1	6.80122e-09	31	35				
TFB1M	51106	broad.mit.edu	37	6	155632395	155632395	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr6:155632395C>G	ENST00000367166.4	-	2	267	c.212G>C	c.(211-213)aGa>aCa	p.R71T	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	71					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAGAATAGATCTTGTGATTCC	0.428																																						ENST00000367166.4																			0				lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(211-213)aGa>aCa		transcription factor B1, mitochondrial							110.0	104.0	106.0					6																	155632395		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155632395C>G	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.212G>C	6.37:g.155632395C>G	ENSP00000356134:p.Arg71Thr					TFB1M_ENST00000480390.1_5'UTR	p.R71T	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	2	267	-		Ovarian(120;0.196)	71					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.212G>C	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112765	0.94339	.	.	ENSG00000029639	ENST00000367166	T	0.28255	1.62	5.96	5.96	0.96718	Ribosomal RNA adenine methylase transferase, conserved site (1);Ribosomal RNA adenine methylase transferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64110	-0.6484	10	0.87932	D	0	-32.3943	20.017	0.97481	0.0:1.0:0.0:0.0	.	71	Q8WVM0	TFB1M_HUMAN	T	71	ENSP00000356134:R71T	ENSP00000356134:R71T	R	-	2	0	TFB1M	155674087	1.000000	0.71417	0.976000	0.42696	0.859000	0.49053	7.154000	0.77437	2.832000	0.97577	0.655000	0.94253	AGA		0.428	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			33	47	0	0	0	1	0	33	47				
MUC17	140453	broad.mit.edu	37	7	100684108	100684108	+	Silent	SNP	C	C	A			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr7:100684108C>A	ENST00000306151.4	+	3	9475	c.9411C>A	c.(9409-9411)acC>acA	p.T3137T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3137	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGACCACTTCTACTG	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9409-9411)acC>acA		mucin 17, cell surface associated							298.0	306.0	303.0					7																	100684108		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684108C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9411C>A	7.37:g.100684108C>A							p.T3137T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9475	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3137			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9411C>A	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	462	1	0	0.00448238	1	0.00460353	7	462				
RYR2	6262	broad.mit.edu	37	1	237893572	237893572	+	Silent	SNP	C	C	T			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:237893572C>T	ENST00000366574.2	+	77	11168	c.10851C>T	c.(10849-10851)gtC>gtT	p.V3617V	RYR2_ENST00000542537.1_Silent_p.V3601V|RYR2_ENST00000360064.6_Silent_p.V3615V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3617					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCGGGCTGTCAATCTCTTTC	0.333																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10849-10851)gtC>gtT		ryanodine receptor 2 (cardiac)							78.0	72.0	74.0					1																	237893572		1828	4078	5906	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237893572C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10851C>T	1.37:g.237893572C>T						RYR2_ENST00000360064.6_Silent_p.V3615V|RYR2_ENST00000542537.1_Silent_p.V3601V	p.V3617V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		77	11168	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3617					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.10851C>T	CCDS55691.1																																																																																				0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	21	0	0	0	1	0	13	21				
FAM83D	81610	broad.mit.edu	37	20	37580707	37580707	+	Silent	SNP	G	G	A			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr20:37580707G>A	ENST00000217429.4	+	4	1433	c.1392G>A	c.(1390-1392)acG>acA	p.T464T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	434	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CTCAAACCACGATTTGGTCCA	0.493																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1390-1392)acG>acA		family with sequence similarity 83, member D							110.0	111.0	111.0					20																	37580707		2138	4237	6375	SO:0001819	synonymous_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580707G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1392G>A	20.37:g.37580707G>A							p.T464T	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1433	+		Myeloproliferative disorder(115;0.00878)	434			Ser-rich.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	c.1392G>A	CCDS42872.1																																																																																				0.493	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			29	39	0	0	0	1	0	29	39				
YME1L1	10730	broad.mit.edu	37	10	27412531	27412531	+	Silent	SNP	G	G	A	rs368632098		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr10:27412531G>A	ENST00000326799.3	-	11	1366	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.S349S|YME1L1_ENST00000375972.3_Silent_p.S316S	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	406					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CATCAAATTCGGATCCAGAAG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10381	0.0		0.0	False		,,,				2504	0.0					ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1216-1218)tcC>tcT		YME1-like 1 ATPase		G	,	1,4405	2.1+/-5.4	0,1,2202	123.0	127.0	125.0		1047,1218	2.4	1.0	10		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	YME1L1	NM_014263.2,NM_139312.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	349/717,406/774	27412531	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27412531G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1218C>T	10.37:g.27412531G>A						YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.S349S|YME1L1_ENST00000375972.3_Silent_p.S316S	p.S406S	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			11	1366	-			406					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1218C>T	CCDS7152.1																																																																																				0.438	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		48	88	0	0	0	1	0	48	88				
ITGA2B	3674	broad.mit.edu	37	17	42458348	42458348	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr17:42458348C>A	ENST00000262407.5	-	13	1323	c.1292G>T	c.(1291-1293)aGg>aTg	p.R431M	ITGA2B_ENST00000353281.4_Missense_Mutation_p.R431M|ITGA2B_ENST00000377068.3_Missense_Mutation_p.R116M	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	431					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R431M(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGGACGTGACCTCAGCCCCTC	0.617																																						ENST00000262407.5																			1	Substitution - Missense(1)	p.R431M(1)	endometrium(1)	biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1291-1293)aGg>aTg		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						79.0	72.0	74.0					17																	42458348		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458348C>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1292G>T	17.37:g.42458348C>A	ENSP00000262407:p.Arg431Met					ITGA2B_ENST00000377068.3_Missense_Mutation_p.R116M|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R431M	p.R431M	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1323	-		Prostate(33;0.0181)	431					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1292G>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361536	0.24684	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.72051	-0.62;-0.62;-0.62	5.49	2.39	0.29439	.	0.564155	0.14762	N	0.299897	T	0.53722	0.1814	L	0.33189	0.99	0.09310	N	0.999995	B	0.25272	0.122	B	0.04013	0.001	T	0.43734	-0.9373	10	0.48119	T	0.1	.	5.4387	0.16496	0.0:0.6044:0.1453:0.2503	.	431	P08514	ITA2B_HUMAN	M	431;431;116	ENSP00000262407:R431M;ENSP00000340536:R431M;ENSP00000366268:R116M	ENSP00000262407:R431M	R	-	2	0	ITGA2B	39813874	0.000000	0.05858	0.344000	0.25628	0.639000	0.38242	-2.046000	0.01409	0.407000	0.25591	0.655000	0.94253	AGG		0.617	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			21	20	1	0	1.87028e-06	1	2.09032e-06	21	20				
SLC44A4	80736	broad.mit.edu	37	6	31833774	31833774	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr6:31833774T>C	ENST00000229729.6	-	14	1383	c.1363A>G	c.(1363-1365)Aac>Gac	p.N455D	SLC44A4_ENST00000544672.1_Missense_Mutation_p.N379D|SLC44A4_ENST00000375562.4_Missense_Mutation_p.N413D	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	455					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGTACCCAGTTAAGGGTCCAG	0.557																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1135-1137)Aac>Gac		solute carrier family 44, member 4	Choline(DB00122)						73.0	73.0	73.0					6																	31833774		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833774T>C	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1363A>G	6.37:g.31833774T>C	ENSP00000229729:p.Asn455Asp					SLC44A4_ENST00000229729.6_Missense_Mutation_p.N455D|SLC44A4_ENST00000375562.4_Missense_Mutation_p.N413D	p.N379D	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			14	1431	-			455	LATSGQPQ -> PLPTQPATLG (in Ref. 4; AAD21813 and 5; BAB63296).				A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1135A>G	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947844	0.73787	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.22945	1.93;1.93;1.93	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.90650	3.135	0.58432	D	0.999996	D	0.76494	0.999	D	0.81914	0.995	T	0.56902	-0.7902	10	0.44086	T	0.13	-18.5993	14.1883	0.65620	0.0:0.0:0.0:1.0	.	455	Q53GD3	CTL4_HUMAN	D	455;413;379	ENSP00000229729:N455D;ENSP00000364712:N413D;ENSP00000444109:N379D	ENSP00000229729:N455D	N	-	1	0	SLC44A4	31941753	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.740000	0.84986	2.186000	0.69663	0.533000	0.62120	AAC		0.557	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			3	86	0	0	0	1	0	3	86				
MMP17	4326	broad.mit.edu	37	12	132329952	132329952	+	Missense_Mutation	SNP	G	G	A	rs374841041		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr12:132329952G>A	ENST00000360564.1	+	8	1264	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	MMP17_ENST00000535291.1_Missense_Mutation_p.V304M|MMP17_ENST00000535004.1_5'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	388					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CGTGGACGCCGTGTACGAGCG	0.692																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1162-1164)Gtg>Atg		matrix metallopeptidase 17 (membrane-inserted)		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	26.0	31.0	29.0		1162	4.6	1.0	12		29	0,8598		0,0,4299	no	missense	MMP17	NM_016155.4	21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	388/604	132329952	1,13003	2203	4299	6502	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132329952G>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1162G>A	12.37:g.132329952G>A	ENSP00000353767:p.Val388Met					MMP17_ENST00000535004.1_5'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.V304M	p.V388M	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	8	1264	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		388			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1162G>A	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959733	0.92791	2.27E-4	0.0	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	4.58	4.58	0.56647	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000001	T	0.23330	0.0564	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.10894	-1.0610	10	0.72032	D	0.01	.	17.384	0.87411	0.0:0.0:1.0:0.0	.	388	Q9ULZ9	MMP17_HUMAN	M	388;304;229;18	ENSP00000353767:V388M;ENSP00000441106:V304M;ENSP00000442104:V229M;ENSP00000439542:V18M	ENSP00000353767:V388M	V	+	1	0	MMP17	130895905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.638000	0.98445	2.094000	0.63399	0.591000	0.81541	GTG		0.692	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		10	9	0	0	0	1	0	10	9				
KPRP	448834	broad.mit.edu	37	1	152732860	152732860	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:152732860C>T	ENST00000606109.1	+	1	824	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	KPRP_ENST00000368773.1_Missense_Mutation_p.P266S			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	266	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGCTTTTCCCCCGCAGCTG	0.617																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(796-798)Ccc>Tcc		keratinocyte proline-rich protein							35.0	42.0	39.0					1																	152732860		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732860C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.796C>T	1.37:g.152732860C>T	ENSP00000475216:p.Pro266Ser					KPRP_ENST00000606109.1_Missense_Mutation_p.P266S	p.P266S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	854	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		266			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.796C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	6.946	0.544374	0.13312	.	.	ENSG00000203786	ENST00000368773	T	0.11277	2.79	5.68	0.803	0.18691	.	0.806142	0.10517	N	0.665444	T	0.01627	0.0052	N	0.14661	0.345	0.09310	N	1	B	0.33583	0.418	B	0.33960	0.173	T	0.45963	-0.9225	10	0.36615	T	0.2	-7.0102	3.1208	0.06391	0.1827:0.318:0.0:0.4993	.	266	Q5T749	KPRP_HUMAN	S	266	ENSP00000357762:P266S	ENSP00000357762:P266S	P	+	1	0	KPRP	150999484	0.004000	0.15560	0.160000	0.22671	0.702000	0.40608	0.058000	0.14301	0.168000	0.19655	0.655000	0.94253	CCC		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		20	32	0	0	0	1	0	20	32				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	68	0	0	0	1	0	4	68				
SLITRK5	26050	broad.mit.edu	37	13	88328681	88328681	+	Silent	SNP	T	T	C			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr13:88328681T>C	ENST00000325089.6	+	2	1257	c.1038T>C	c.(1036-1038)tcT>tcC	p.S346S	SLITRK5_ENST00000400028.3_Silent_p.S105S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	346					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCACCTCTCGGCAGCCCT	0.587																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1036-1038)tcT>tcC		SLIT and NTRK-like family, member 5							60.0	64.0	62.0					13																	88328681		2203	4299	6502	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88328681T>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1038T>C	13.37:g.88328681T>C						SLITRK5_ENST00000400028.3_Silent_p.S105S	p.S346S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1257	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		346					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1038T>C	CCDS9465.1																																																																																				0.587	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			43	59	0	0	0	1	0	43	59				
NFASC	23114	broad.mit.edu	37	1	204926875	204926875	+	Silent	SNP	C	C	T	rs374961734		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:204926875C>T	ENST00000401399.1	+	7	826	c.627C>T	c.(625-627)acC>acT	p.T209T	NFASC_ENST00000367169.4_Silent_p.T209T|NFASC_ENST00000539706.1_Silent_p.T203T|NFASC_ENST00000339876.6_Silent_p.T209T|NFASC_ENST00000360049.4_Silent_p.T203T|NFASC_ENST00000367171.4_Silent_p.T209T|NFASC_ENST00000404076.1_Silent_p.T203T|NFASC_ENST00000338515.6_Silent_p.T209T|NFASC_ENST00000403080.1_Silent_p.T209T|NFASC_ENST00000404907.1_Silent_p.T203T|NFASC_ENST00000338586.6_Silent_p.T209T|NFASC_ENST00000367170.4_Silent_p.T209T|NFASC_ENST00000513543.1_Silent_p.T203T|NFASC_ENST00000367172.4_Silent_p.T209T			O94856	NFASC_HUMAN	neurofascin	209	Ig-like C2-type 2.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.T209T(1)|p.T203T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATGCAGACCGACTACAGTT	0.537																																						ENST00000367172.4																			2	Substitution - coding silent(2)	p.T209T(1)|p.T203T(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(625-627)acC>acT		neurofascin		C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	169.0	148.0	155.0		627,627,609,609,609,609	-9.2	0.4	1		155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFASC	NM_001005388.2,NM_001005389.1,NM_001160331.1,NM_001160332.1,NM_001160333.1,NM_015090.3	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	209/1241,209/620,203/1190,203/1175,203/614,203/1170	204926875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204926875C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.627C>T	1.37:g.204926875C>T						NFASC_ENST00000367171.4_Silent_p.T209T|NFASC_ENST00000338515.6_Silent_p.T209T|NFASC_ENST00000367169.4_Silent_p.T209T|NFASC_ENST00000513543.1_Silent_p.T203T|NFASC_ENST00000539706.1_Silent_p.T203T|NFASC_ENST00000403080.1_Silent_p.T209T|NFASC_ENST00000401399.1_Silent_p.T209T|NFASC_ENST00000404076.1_Silent_p.T203T|NFASC_ENST00000367170.4_Silent_p.T209T|NFASC_ENST00000338586.6_Silent_p.T209T|NFASC_ENST00000404907.1_Silent_p.T203T|NFASC_ENST00000360049.4_Silent_p.T203T|NFASC_ENST00000339876.6_Silent_p.T209T	p.T209T			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		8	955	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		209			Ig-like C2-type 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.627C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154169	0.21371	2.27E-4	0.0	ENSG00000163531	ENST00000367173	.	.	.	4.61	-9.22	0.00675	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39901	-0.9591	4	.	.	.	.	2.3027	0.04166	0.1693:0.1698:0.1645:0.4964	.	.	.	.	L	179	.	.	P	+	2	0	NFASC	203193498	0.000000	0.05858	0.386000	0.26170	0.994000	0.84299	-4.355000	0.00247	-2.569000	0.00469	-0.136000	0.14681	CCG		0.537	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		11	73	0	0	0	1	0	11	73				
GGPS1	9453	broad.mit.edu	37	1	235505067	235505067	+	Silent	SNP	C	C	T			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:235505067C>T	ENST00000282841.5	+	3	347	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	GGPS1_ENST00000476121.1_Silent_p.L39L|GGPS1_ENST00000358966.2_Silent_p.L39L|GGPS1_ENST00000391855.2_5'UTR|GGPS1_ENST00000488594.1_Silent_p.L39L			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	39					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	TAATCATTGGCTGAAAGTTCC	0.328																																						ENST00000282841.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8						c.(115-117)Ctg>Ttg		geranylgeranyl diphosphate synthase 1							86.0	86.0	86.0					1																	235505067		2203	4300	6503	SO:0001819	synonymous_variant	9453				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:235505067C>T	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.115C>T	1.37:g.235505067C>T						GGPS1_ENST00000358966.2_Silent_p.L39L|GGPS1_ENST00000488594.1_Silent_p.L39L|GGPS1_ENST00000476121.1_Silent_p.L39L|GGPS1_ENST00000391855.2_5'UTR	p.L39L			O95749	GGPPS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		3	347	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	39					A8MVQ8|Q5T2C8|Q6NW19	Silent	SNP	ENST00000282841.5	37	c.115C>T	CCDS1604.1																																																																																				0.328	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837		21	68	0	0	0	1	0	21	68				
MYH8	4626	broad.mit.edu	37	17	10315826	10315826	+	Missense_Mutation	SNP	G	G	A	rs150633264	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr17:10315826G>A	ENST00000403437.2	-	14	1371	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	426	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCACCCACCGCATTGTACAC	0.498									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				G|||	2	0.000399361	0.0	0.0	5008	,	,		19543	0.0		0.0	False		,,,				2504	0.002					ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1276-1278)gCg>gTg		myosin, heavy chain 8, skeletal muscle, perinatal		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	316.0	280.0	292.0		1277	4.6	0.6	17	dbSNP_134	292	0,8600		0,0,4300	no	missense	MYH8	NM_002472.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	426/1938	10315826	1,13005	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315826G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1277C>T	17.37:g.10315826G>A	ENSP00000384330:p.Ala426Val					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A426V	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			14	1371	-			426			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1277C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593031	0.46214	2.27E-4	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.89343	-2.5	4.6	4.6	0.57074	Myosin head, motor domain (2);	0.197053	0.24705	U	0.036262	D	0.89040	0.6602	M	0.66506	2.035	0.33565	D	0.597838	B	0.31817	0.341	B	0.38428	0.273	D	0.93101	0.6508	10	0.87932	D	0	.	13.4753	0.61306	0.0:0.0:0.8431:0.1569	.	426	P13535	MYH8_HUMAN	V	426	ENSP00000384330:A426V	ENSP00000252173:A426V	A	-	2	0	MYH8	10256551	0.997000	0.39634	0.643000	0.29450	0.303000	0.27691	7.653000	0.83643	2.391000	0.81399	0.650000	0.86243	GCG		0.498	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		11	290	0	0	0	1	0	11	290				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	67	0	0	0	1	0	4	67				
APC	324	broad.mit.edu	37	5	112175907	112175907	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr5:112175907C>G	ENST00000457016.1	+	16	4996	c.4616C>G	c.(4615-4617)tCa>tGa	p.S1539*	APC_ENST00000257430.4_Nonsense_Mutation_p.S1539*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1539*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1539	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1540fs*4(1)|p.K1192fs*3(1)|p.?(1)|p.S1539*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAACAGAATCAGAGCAGCCT	0.368		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		4	Substitution - Nonsense(1)|Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.E1540fs*4(1)|p.K1192fs*3(1)|p.?(1)|p.S1539*(1)	small_intestine(1)|soft_tissue(1)|large_intestine(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM970093	APC	M		c.(4615-4617)tCa>tGa		adenomatous polyposis coli							76.0	82.0	80.0					5																	112175907		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175907C>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4616C>G	5.37:g.112175907C>G	ENSP00000413133:p.Ser1539*	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S1539*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1539*	p.S1539*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4996	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1539			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.4616C>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.129016	0.98667	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.16	4.37	0.52481	.	0.462405	0.23105	N	0.051878	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2576	7.6338	0.28255	0.134:0.6846:0.1172:0.0642	.	.	.	.	X	1539	.	.	S	+	2	0	APC	112203806	0.981000	0.34729	0.990000	0.47175	0.570000	0.35934	2.225000	0.42954	0.907000	0.36646	0.650000	0.86243	TCA		0.368	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		35	16	0	0	0	1	0	35	16				
ORC2	4999	broad.mit.edu	37	2	201822858	201822858	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr2:201822858T>C	ENST00000234296.2	-	3	240		c.e3-2		ORC2_ENST00000467605.1_Intron	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GTTGCCAACCTAAACAAAAAC	0.313																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.e3-2		origin recognition complex, subunit 2							123.0	107.0	112.0					2																	201822858		2203	4298	6501	SO:0001630	splice_region_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201822858T>C		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.10-2A>G	2.37:g.201822858T>C						ORC2_ENST00000467605.1_Intron		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			3	240	-								Q13204|Q53TX5	Splice_Site	SNP	ENST00000234296.2	37		CCDS2334.1																																																																																				0.313	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190	Intron	3	82	0	0	0	1	0	3	82				
ARHGAP32	9743	broad.mit.edu	37	11	128844792	128844792	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr11:128844792T>C	ENST00000310343.9	-	20	2257	c.2258A>G	c.(2257-2259)aAt>aGt	p.N753S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.N679S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N404S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N404S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	753					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATGAGGCAGATTATCATAGGA	0.498																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2257-2259)aAt>aGt		Rho GTPase activating protein 32							73.0	67.0	69.0					11																	128844792		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844792T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2258A>G	11.37:g.128844792T>C	ENSP00000310561:p.Asn753Ser					ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N404S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N404S|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.N679S	p.N753S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2257	-			753					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2258A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	9.782	1.175513	0.21704	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.59	5.59	0.84812	.	0.139168	0.64402	D	0.000008	T	0.17023	0.0409	N	0.20401	0.57	0.54753	D	0.999984	B;B	0.28605	0.217;0.217	B;B	0.34779	0.014;0.189	T	0.11494	-1.0585	10	0.18710	T	0.47	.	15.7614	0.78082	0.0:0.0:0.0:1.0	.	687;753	Q86T64;A7KAX9	.;RHG32_HUMAN	S	753;404;679;687;404	ENSP00000310561:N753S;ENSP00000376425:N404S;ENSP00000432468:N679S;ENSP00000432862:N404S	ENSP00000310561:N753S	N	-	2	0	ARHGAP32	128350002	1.000000	0.71417	0.501000	0.27601	0.749000	0.42624	7.429000	0.80309	2.125000	0.65367	0.528000	0.53228	AAT		0.498	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		22	39	0	0	0	1	0	22	39				
SMG7	9887	broad.mit.edu	37	1	183513586	183513589	+	Frame_Shift_Del	DEL	CCCC	CCCC	-			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:183513586_183513589delCCCC	ENST00000347615.2	+	15	2060_2063	c.1941_1944delCCCC	c.(1939-1944)atccccfs	p.IP647fs	SMG7_ENST00000456731.2_Frame_Shift_Del_p.IP559fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.IP605fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.IP601fs|SMG7_ENST00000367537.3_Frame_Shift_Del_p.IP630fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.IP601fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	647					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCCAGTTCATCCCCATTCATCACC	0.426																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1888-1893)atfs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183513586_183513589delCCCC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1941_1944delCCCC	1.37:g.183513586_183513589delCCCC	ENSP00000340766:p.Ile647fs					SMG7_ENST00000507469.1_Frame_Shift_Del_p.IP601fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.IP559fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.IP605fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.IP601fs|SMG7_ENST00000347615.2_Frame_Shift_Del_p.IP647fs	p.IP630fs			Q92540	SMG7_HUMAN			16	2085_2088	+			647					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Del	DEL	ENST00000347615.2	37	c.1890_1893delCCCC	CCDS1355.1																																																																																				0.426	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		32	80						32	80	---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887021	3887021	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr3:3887021delA	ENST00000319331.3	+	2	1457	c.696delA	c.(694-696)ggafs	p.G232fs	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	232						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATATTCCTGGAAATGCTTTGG	0.408																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(694-696)ggfs		leucine rich repeat neuronal 1							110.0	117.0	115.0					3																	3887021		2203	4300	6503	SO:0001589	frameshift_variant	57633					integral to membrane		g.chr3:3887021delA	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.696delA	3.37:g.3887021delA	ENSP00000314901:p.Gly232fs					SUMF1_ENST00000534863.1_Intron	p.G232fs	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1457	+			232					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Frame_Shift_Del	DEL	ENST00000319331.3	37	c.696delA	CCDS33685.1																																																																																				0.408	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		9	229						9	229	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gat>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	p.DD541del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			10	162						10	162	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169188601	169188601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr5:169188601delA	ENST00000256935.8	+	25	2606	c.2526delA	c.(2524-2526)atafs	p.I842fs	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.I334fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	842					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAATGAGATAGTCCAGAGCA	0.488																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(2524-2526)atfs		dedicator of cytokinesis 2							150.0	147.0	148.0					5																	169188601		2203	4300	6503	SO:0001589	frameshift_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169188601delA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2526delA	5.37:g.169188601delA	ENSP00000256935:p.Ile842fs					DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.I334fs	p.I842fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		25	2606	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	842					Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	ENST00000256935.8	37	c.2526delA	CCDS4371.1																																																																																				0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		65	111						65	111	---	---	---	---
PXN	5829	broad.mit.edu	37	12	120661542	120661542	+	Frame_Shift_Del	DEL	C	C	-	rs377641479		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr12:120661542delC	ENST00000228307.7	-	3	476	c.335delG	c.(334-336)ggtfs	p.G112fs	PXN_ENST00000536957.1_Frame_Shift_Del_p.G110fs|PXN_ENST00000424649.2_Frame_Shift_Del_p.G112fs|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000267257.7_Frame_Shift_Del_p.G112fs|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	112					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCTCCTCACCCACTCGGGA	0.612																																						ENST00000536957.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(328-330)gtfs		paxillin							52.0	57.0	55.0					12																	120661542		2071	4207	6278	SO:0001589	frameshift_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120661542delC	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.335delG	12.37:g.120661542delC	ENSP00000228307:p.Gly112fs					PXN_ENST00000424649.2_Frame_Shift_Del_p.G112fs|PXN_ENST00000267257.7_Frame_Shift_Del_p.G112fs|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000228307.7_Frame_Shift_Del_p.G112fs|PXN_ENST00000538144.1_5'UTR	p.G110fs			P49023	PAXI_HUMAN			3	804	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		112					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Frame_Shift_Del	DEL	ENST00000228307.7	37	c.329delG	CCDS44997.1																																																																																				0.612	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	4						3	4	---	---	---	---
PSMB6	5694	broad.mit.edu	37	17	4699584	4699584	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr17:4699584delC	ENST00000270586.3	+	1	146	c.95delC	c.(94-96)tccfs	p.S32fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CGAGAAGTTTCCACTGGGGTG	0.607																																						ENST00000270586.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(94-96)tcfs		proteasome (prosome, macropain) subunit, beta type, 6							22.0	20.0	21.0					17																	4699584		2190	4287	6477	SO:0001589	frameshift_variant	5694				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.chr17:4699584delC	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.95delC	17.37:g.4699584delC	ENSP00000270586:p.Ser32fs						p.S32fs	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN			1	146	+			32					Q96J55	Frame_Shift_Del	DEL	ENST00000270586.3	37	c.95delC	CCDS11056.1																																																																																				0.607	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		2	4						2	4	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45324017	45324017	+	Frame_Shift_Del	DEL	G	G	-	rs574102519	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr19:45324017delG	ENST00000270233.6	+	14	1841	c.1819delG	c.(1819-1821)ggcfs	p.G607fs		NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	607					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGAGCAGACCGGCCTTCTCAT	0.726																																						ENST00000270233.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1819-1821)gcfs		basal cell adhesion molecule (Lutheran blood group)							19.0	20.0	19.0					19																	45324017		2170	4261	6431	SO:0001589	frameshift_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45324017delG	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1819delG	19.37:g.45324017delG	ENSP00000270233:p.Gly607fs						p.G607fs	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN			14	1841	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	607					A8MYF9|A9YWT5|A9YWT6|Q86VC7	Frame_Shift_Del	DEL	ENST00000270233.6	37	c.1819delG	CCDS12644.1																																																																																				0.726	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		2	4						2	4	---	---	---	---
SCARF2	91179	broad.mit.edu	37	22	20779786	20779786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr22:20779786delG	ENST00000266214.5	-	11	2596	c.2492delC	c.(2491-2493)gcgfs	p.A832fs	SCARF2_ENST00000405555.3_Frame_Shift_Del_p.A827fs	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	832	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTCGGTCGCCGCCTTCTCAGG	0.746																																						ENST00000405555.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10						c.(2476-2478)ggfs		scavenger receptor class F, member 2							3.0	5.0	4.0					22																	20779786		1434	3226	4660	SO:0001589	frameshift_variant	0				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20779786delG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2492delC	22.37:g.20779786delG	ENSP00000266214:p.Ala832fs					SCARF2_ENST00000266214.5_Frame_Shift_Del_p.A832fs	p.A827fs	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		11	2547	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	828			Pro-rich.		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Frame_Shift_Del	DEL	ENST00000266214.5	37	c.2477delC	CCDS13779.1																																																																																				0.746	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			2	4						2	4	---	---	---	---
