#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
NDUFAF3	25915	broad.mit.edu	37	3	49062646	49062646	+	IGR	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:49062646G>A	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Missense_Mutation_p.R355W|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAAAGCGCCGTGCATACTCT	0.557																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1063-1065)Cgg>Tgg		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						108.0	112.0	110.0					3																	49062646		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062646G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062646G>A							p.R355W	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1102	-			355						Missense_Mutation	SNP	ENST00000326925.6	37	c.1063C>T	CCDS2784.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.304528|2.304528	0.40795|0.40795	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000326739|ENST00000429182	T|.	0.79653|.	-1.29|.	5.33|5.33	2.49|2.49	0.30216|0.30216	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85961|0.85961	0.5819|0.5819	H|H	0.95917|0.95917	3.74|3.74	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72338|.	0.977|.	D|D	0.88870|0.88870	0.3332|0.3332	9|5	.|.	.|.	.|.	-12.6352|-12.6352	14.1118|14.1118	0.65126|0.65126	0.0:0.0:0.4849:0.5151|0.0:0.0:0.4849:0.5151	.|.	355|.	P12268|.	IMDH2_HUMAN|.	W|M	355|310	ENSP00000321584:R355W|.	.|.	R|T	-|-	1|2	2|0	IMPDH2|IMPDH2	49037650|49037650	0.652000|0.652000	0.27349|0.27349	0.979000|0.979000	0.43373|0.43373	0.967000|0.967000	0.64934|0.64934	0.805000|0.805000	0.27112|0.27112	0.214000|0.214000	0.20742|0.20742	-0.181000|-0.181000	0.13052|0.13052	CGG|ACG		0.557	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		30	264	0	0	0	1	0	30	264				
TBC1D22B	55633	broad.mit.edu	37	6	37225722	37225722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:37225722G>A	ENST00000373491.3	+	1	175	c.29G>A	c.(28-30)tGg>tAg	p.W10*	TMEM217_ENST00000497775.1_5'Flank|TMEM217_ENST00000336655.2_5'Flank|TMEM217_ENST00000356757.2_5'Flank	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	10							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGCAGTTTTGGAAGAGGAGC	0.622																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(28-30)tGg>tAg		TBC1 domain family, member 22B							38.0	32.0	34.0					6																	37225722		2203	4300	6503	SO:0001587	stop_gained	55633					intracellular	Rab GTPase activator activity	g.chr6:37225722G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.29G>A	6.37:g.37225722G>A	ENSP00000362590:p.Trp10*						p.W10*	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		1	175	+			10					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Nonsense_Mutation	SNP	ENST00000373491.3	37	c.29G>A	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469150	0.98302	.	.	ENSG00000065491	ENST00000373491	.	.	.	5.62	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9599	0.53003	0.0825:0.0:0.9175:0.0	.	.	.	.	X	10	.	ENSP00000362590:W10X	W	+	2	0	TBC1D22B	37333700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.232000	0.65332	1.363000	0.46019	0.655000	0.94253	TGG		0.622	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		9	39	0	0	0	1	0	9	39				
E2F8	79733	broad.mit.edu	37	11	19246838	19246838	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:19246838T>A	ENST00000527884.1	-	12	2583	c.2351A>T	c.(2350-2352)aAc>aTc	p.N784I	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.N784I|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	784					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGTCATAGTTGGTGGCCCT	0.498																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2350-2352)aAc>aTc		E2F transcription factor 8							133.0	134.0	134.0					11																	19246838		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19246838T>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2351A>T	11.37:g.19246838T>A	ENSP00000434199:p.Asn784Ile					E2F8_ENST00000250024.4_Missense_Mutation_p.N784I|RP11-428C19.4_ENST00000527978.1_RNA	p.N784I	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			12	2583	-			784					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.2351A>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	T	4.666	0.123805	0.08931	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.17528	2.27;2.27	5.26	-6.84	0.01687	.	1.184280	0.05766	N	0.605871	T	0.06690	0.0171	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	10	0.49607	T	0.09	3.46	7.9324	0.29909	0.2088:0.133:0.0:0.6582	.	784	A0AVK6	E2F8_HUMAN	I	784	ENSP00000434199:N784I;ENSP00000250024:N784I	ENSP00000250024:N784I	N	-	2	0	E2F8	19203414	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.305000	0.08188	-1.221000	0.02591	0.482000	0.46254	AAC		0.498	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		17	129	0	0	0	1	0	17	129				
PHLDB2	90102	broad.mit.edu	37	3	111671550	111671550	+	Silent	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:111671550C>T	ENST00000431670.2	+	11	3174	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000412622.1_Silent_p.I878I|PHLDB2_ENST00000393925.3_Silent_p.I921I|PHLDB2_ENST00000393923.3_Silent_p.I905I|PHLDB2_ENST00000481953.1_Silent_p.I878I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	921						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAGAAGCATCACCCCAAAGG	0.453																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2761-2763)atC>atT		pleckstrin homology-like domain, family B, member 2							98.0	94.0	95.0					3																	111671550		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111671550C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2763C>T	3.37:g.111671550C>T						PHLDB2_ENST00000393925.3_Silent_p.I921I|PHLDB2_ENST00000412622.1_Silent_p.I878I|PHLDB2_ENST00000481953.1_Silent_p.I878I|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Silent_p.I905I	p.I921I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			11	3174	+			921					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.2763C>T	CCDS46886.1																																																																																				0.453	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		16	59	0	0	0	1	0	16	59				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			3	66	0	0	0	1	0	3	66				
NYAP1	222950	broad.mit.edu	37	7	100086968	100086968	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:100086968G>T	ENST00000300179.2	+	4	1783	c.1624G>T	c.(1624-1626)Gta>Tta	p.V542L	NYAP1_ENST00000423930.1_Missense_Mutation_p.V542L|NYAP1_ENST00000454988.1_Missense_Mutation_p.V485L	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	542					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGACCCAACTGTAGGCCCCCT	0.687																																						ENST00000423930.1																			0											c.(1624-1626)Gta>Tta		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							12.0	15.0	14.0					7																	100086968		2194	4284	6478	SO:0001583	missense	222950							g.chr7:100086968G>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1624G>T	7.37:g.100086968G>T	ENSP00000300179:p.Val542Leu					NYAP1_ENST00000300179.2_Missense_Mutation_p.V542L|NYAP1_ENST00000454988.1_Missense_Mutation_p.V485L	p.V542L			Q6ZVC0	CG051_HUMAN			4	1783	+			542					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1624G>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	8.684	0.905728	0.17760	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.30448	1.53;1.53;1.54	5.35	2.11	0.27256	.	0.705502	0.12808	N	0.437434	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21793	-1.0235	10	0.59425	D	0.04	0.3797	9.6606	0.39952	0.2761:0.0:0.7239:0.0	.	485;542	C9JS30;Q6ZVC0	.;CG051_HUMAN	L	542;542;485	ENSP00000300179:V542L;ENSP00000411861:V542L;ENSP00000394424:V485L	ENSP00000300179:V542L	V	+	1	0	C7orf51	99924904	0.001000	0.12720	0.716000	0.30569	0.722000	0.41435	0.130000	0.15850	0.650000	0.30769	0.561000	0.74099	GTA		0.687	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		12	13	1	0	1.15919e-05	1	1.18192e-05	12	13				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			0							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	105	0	0	0	1	0	4	105				
ZNF709	163051	broad.mit.edu	37	19	12577553	12577553	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:12577553T>C	ENST00000397732.3	-	2	286	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF709_ENST00000428311.1_Missense_Mutation_p.N39D|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.N39D	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GAGGCCAAGTTAACAAAGGTT	0.428																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(115-117)Aac>Gac		zinc finger protein 709							94.0	95.0	95.0					19																	12577553		2200	4297	6497	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12577553T>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.115A>G	19.37:g.12577553T>C	ENSP00000380840:p.Asn39Asp					CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.N39D|ZNF709_ENST00000428311.1_Missense_Mutation_p.N39D	p.N39D	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			2	286	-			39			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.115A>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821814	0.71028	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.02345	4.33;4.33;4.33	3.19	2.13	0.27403	Krueppel-associated box (4);	0.000000	0.38778	N	0.001565	T	0.17280	0.0415	M	0.93854	3.465	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03443	-1.1036	10	0.66056	D	0.02	.	7.6922	0.28575	0.0:0.0:0.2146:0.7853	.	39	Q8N972	ZN709_HUMAN	D	39;68;39	ENSP00000380840:N39D;ENSP00000398085:N68D;ENSP00000404127:N39D	ENSP00000404127:N39D	N	-	1	0	ZNF709;CTD-2192J16.17	12438553	0.002000	0.14202	0.034000	0.17996	0.932000	0.56968	1.092000	0.30927	0.582000	0.29556	0.402000	0.26972	AAC		0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	45	0	0	0	1	0	5	45				
GATAD2B	57459	broad.mit.edu	37	1	153784245	153784245	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:153784245G>A	ENST00000368655.4	-	10	1853	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	537					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGACAACTGGGGTGCCTGTGC	0.517																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1609-1611)cCc>cTc		GATA zinc finger domain containing 2B							84.0	84.0	84.0					1																	153784245		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153784245G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1610C>T	1.37:g.153784245G>A	ENSP00000357644:p.Pro537Leu						p.P537L	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1853	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		537					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.1610C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482910	0.84747	.	.	ENSG00000143614	ENST00000368655	T	0.32023	1.47	5.52	5.52	0.82312	.	0.051334	0.85682	D	0.000000	T	0.17662	0.0424	L	0.43923	1.385	0.80722	D	1	P	0.37781	0.608	B	0.32289	0.143	T	0.03034	-1.1080	10	0.52906	T	0.07	-1.0494	18.37	0.90403	0.0:0.0:1.0:0.0	.	537	Q8WXI9	P66B_HUMAN	L	537	ENSP00000357644:P537L	ENSP00000357644:P537L	P	-	2	0	GATAD2B	152050869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.186000	0.94906	2.873000	0.98535	0.563000	0.77884	CCC		0.517	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		3	107	0	0	0	1	0	3	107				
DHX32	55760	broad.mit.edu	37	10	127548295	127548295	+	Silent	SNP	A	A	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr10:127548295A>G	ENST00000284690.3	-	3	1216	c.726T>C	c.(724-726)ccT>ccC	p.P242P	DHX32_ENST00000284688.6_Silent_p.P242P	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	242						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAACCTCCACAGGGTGTTTAT	0.403																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(724-726)ccT>ccC		DEAH (Asp-Glu-Ala-His) box polypeptide 32							124.0	129.0	127.0					10																	127548295		2203	4300	6503	SO:0001819	synonymous_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127548295A>G		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.726T>C	10.37:g.127548295A>G						DHX32_ENST00000284688.6_Silent_p.P242P	p.P242P	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			3	1216	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	242					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	c.726T>C	CCDS7652.1																																																																																				0.403	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		18	91	0	0	0	1	0	18	91				
NSUN5	55695	broad.mit.edu	37	7	72718830	72718830	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:72718830G>A	ENST00000252594.6	-	6	684	c.669C>T	c.(667-669)gaC>gaT	p.D223D	NSUN5_ENST00000310326.8_Silent_p.D223D|NSUN5_ENST00000428206.1_Silent_p.D185D|NSUN5_ENST00000438747.2_Silent_p.D223D			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	223					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTGGCGGGGGGTCCAGCAGCA	0.617																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(553-555)gaC>gaT		NOP2/Sun domain family, member 5							36.0	39.0	38.0					7																	72718830		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72718830G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.669C>T	7.37:g.72718830G>A						NSUN5_ENST00000438747.2_Silent_p.D223D|NSUN5_ENST00000252594.6_Silent_p.D223D|NSUN5_ENST00000310326.8_Silent_p.D223D	p.D185D	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			6	568	-		Lung NSC(55;0.163)	223					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.555C>T	CCDS5547.1																																																																																				0.617	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		3	52	0	0	0	1	0	3	52				
AMICA1	120425	broad.mit.edu	37	11	118068757	118068757	+	Missense_Mutation	SNP	C	C	G	rs139352792		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:118068757C>G	ENST00000356289.5	-	8	1134	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	AMICA1_ENST00000292067.7_Missense_Mutation_p.E311Q|AMICA1_ENST00000533261.1_Missense_Mutation_p.E310Q|AMICA1_ENST00000526620.1_Missense_Mutation_p.E282Q	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	321					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTTTATCTCTGGATTAGTC	0.438											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(931-933)Gag>Cag		adhesion molecule, interacts with CXADR antigen 1							193.0	175.0	182.0					11																	118068757		2199	4296	6495	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118068757C>G	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.961G>C	11.37:g.118068757C>G	ENSP00000348635:p.Glu321Gln		OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	AMICA1_ENST00000526620.1_Missense_Mutation_p.E282Q|AMICA1_ENST00000356289.5_Missense_Mutation_p.E321Q|AMICA1_ENST00000533261.1_Missense_Mutation_p.E310Q	p.E311Q	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1372	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	321					B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.931G>C	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012217	0.35511	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98792	-4.58;-4.59;-4.58;-5.14	3.91	3.91	0.45181	.	0.147309	0.31897	N	0.006898	D	0.96197	0.8760	N	0.14661	0.345	0.20074	N	0.999934	P;B;P;P;P	0.48998	0.7;0.018;0.641;0.641;0.918	B;B;P;P;P	0.50860	0.383;0.018;0.45;0.45;0.652	D	0.91024	0.4859	10	0.26408	T	0.33	0.285	11.7151	0.51647	0.0:1.0:0.0:0.0	.	321;282;321;310;311	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	Q	321;311;310;282	ENSP00000348635:E321Q;ENSP00000292067:E311Q;ENSP00000436117:E310Q;ENSP00000431218:E282Q	ENSP00000292067:E311Q	E	-	1	0	AMICA1	117573967	0.998000	0.40836	0.848000	0.33437	0.003000	0.03518	3.018000	0.49625	2.470000	0.83445	0.650000	0.86243	GAG		0.438	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		3	105	0	0	0	1	0	3	105				
TEP1	7011	broad.mit.edu	37	14	20859812	20859812	+	Silent	SNP	G	G	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:20859812G>C	ENST00000262715.5	-	13	2083	c.2043C>G	c.(2041-2043)gtC>gtG	p.V681V	TEP1_ENST00000556935.1_Silent_p.V573V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	681					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGTCAGATAGACCAAGACAG	0.532																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2041-2043)gtC>gtG		telomerase-associated protein 1							154.0	135.0	141.0					14																	20859812		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20859812G>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2043C>G	14.37:g.20859812G>C						TEP1_ENST00000556935.1_Silent_p.V573V	p.V681V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	13	2083	-	all_cancers(95;0.00123)	all_lung(585;0.235)	681					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.2043C>G	CCDS9548.1																																																																																				0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		22	184	0	0	0	1	0	22	184				
TRIO	7204	broad.mit.edu	37	5	14293176	14293176	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr5:14293176T>C	ENST00000344204.4	+	6	1133	c.1109T>C	c.(1108-1110)aTt>aCt	p.I370T	TRIO_ENST00000537187.1_Missense_Mutation_p.I370T|TRIO_ENST00000509967.2_Missense_Mutation_p.I321T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	370					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TACACAGAGATTGGGACCAGC	0.493																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1108-1110)aTt>aCt		trio Rho guanine nucleotide exchange factor							142.0	121.0	128.0					5																	14293176		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14293176T>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1109T>C	5.37:g.14293176T>C	ENSP00000339299:p.Ile370Thr					TRIO_ENST00000537187.1_Missense_Mutation_p.I370T|TRIO_ENST00000509967.2_Missense_Mutation_p.I321T	p.I370T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			6	1133	+	Lung NSC(4;0.000742)		370					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1109T>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420296	0.62622	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52983	0.64;0.64;0.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.91635	0.999;0.999;0.991	T	0.76080	-0.3090	10	0.66056	D	0.02	.	14.9321	0.70923	0.0:0.0:0.0:1.0	.	321;370;370	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	T	370;370;321;57	ENSP00000339299:I370T;ENSP00000446348:I370T;ENSP00000445592:I321T	ENSP00000339299:I370T	I	+	2	0	TRIO	14346176	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	8.040000	0.89188	1.935000	0.56089	0.459000	0.35465	ATT		0.493	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		26	64	0	0	0	1	0	26	64				
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:168430272T>A	ENST00000443060.2	+	3	398	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_ENST00000351261.3_Missense_Mutation_p.W3R|KIF25_ENST00000354419.2_Missense_Mutation_p.W3R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W3R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612																																						ENST00000443060.2																			1	Substitution - Missense(1)	p.W3R(1)	skin(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(7-9)Tgg>Agg		kinesin family member 25							127.0	120.0	122.0					6																	168430272		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168430272T>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.7T>A	6.37:g.168430272T>A	ENSP00000388878:p.Trp3Arg					KIF25_ENST00000351261.3_Missense_Mutation_p.W3R|KIF25_ENST00000354419.2_Missense_Mutation_p.W3R	p.W3R			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	3	398	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	3			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.7T>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	t	0.006	-2.097855	0.00360	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.72725	-0.68;-0.68;0.12	0.785	0.785	0.18584	.	0.000000	0.46758	U	0.000269	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21552	-1.0242	9	.	.	.	.	3.8317	0.08877	0.0:0.0:0.0:1.0	.	3;3	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	R	3	ENSP00000388878:W3R;ENSP00000346401:W3R;ENSP00000252688:W3R	.	W	+	1	0	KIF25	168173121	0.001000	0.12720	0.011000	0.14972	0.015000	0.08874	-0.031000	0.12287	0.590000	0.29694	0.334000	0.21626	TGG		0.612	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			4	181	0	0	0	1	0	4	181				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	83	0	0	0	1	0	3	83				
ASPRV1	151516	broad.mit.edu	37	2	70188128	70188128	+	Silent	SNP	G	G	A	rs143824935		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:70188128G>A	ENST00000320256.4	-	1	1269	c.693C>T	c.(691-693)ggC>ggT	p.G231G	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGTCCAGATCGCCATCAGTGA	0.567																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(691-693)ggC>ggT		aspartic peptidase, retroviral-like 1		G		0,4406		0,0,2203	87.0	83.0	84.0		693	-7.5	0.0	2	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ASPRV1	NM_152792.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		231/344	70188128	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188128G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.693C>T	2.37:g.70188128G>A							p.G231G	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1269	-			231			Peptidase A2.			Silent	SNP	ENST00000320256.4	37	c.693C>T	CCDS1897.1																																																																																				0.567	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		6	88	0	0	0	1	0	6	88				
MDN1	23195	broad.mit.edu	37	6	90368423	90368423	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:90368423G>A	ENST00000369393.3	-	89	15042	c.14927C>T	c.(14926-14928)tCt>tTt	p.S4976F	MDN1_ENST00000428876.1_Missense_Mutation_p.S4976F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4976					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGCTCCTCAGAGTGTTCTTC	0.532																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(14926-14928)tCt>tTt		MDN1, midasin homolog (yeast)							277.0	242.0	254.0					6																	90368423		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90368423G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14927C>T	6.37:g.90368423G>A	ENSP00000358400:p.Ser4976Phe					MDN1_ENST00000428876.1_Missense_Mutation_p.S4976F	p.S4976F			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	89	15042	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4976					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.14927C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	9.088	1.000905	0.19121	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03330	3.97;3.97	5.09	0.807	0.18714	.	1.362210	0.04771	N	0.427984	T	0.00936	0.0031	N	0.22421	0.69	0.09310	N	1	B	0.26318	0.146	B	0.18871	0.023	T	0.47471	-0.9115	10	0.59425	D	0.04	.	4.8777	0.13664	0.1691:0.0:0.435:0.396	.	4976	Q9NU22	MDN1_HUMAN	F	4976	ENSP00000358400:S4976F;ENSP00000413970:S4976F	ENSP00000358400:S4976F	S	-	2	0	MDN1	90425144	0.004000	0.15560	0.002000	0.10522	0.015000	0.08874	0.850000	0.27737	0.211000	0.20683	0.555000	0.69702	TCT		0.532	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			12	147	0	0	0	1	0	12	147				
PSG6	5675	broad.mit.edu	37	19	43414761	43414761	+	Missense_Mutation	SNP	C	C	T	rs9748		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:43414761C>T	ENST00000292125.2	-	3	721	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PSG6_ENST00000187910.2_Missense_Mutation_p.R226H|PSG6_ENST00000402603.4_Missense_Mutation_p.R226H	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	226	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGGTCACTGCGGCTGGCACT	0.522																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(676-678)cGc>cAc		pregnancy specific beta-1-glycoprotein 6							144.0	157.0	152.0					19																	43414761		2201	4295	6496	SO:0001583	missense	5675							g.chr19:43414761C>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.677G>A	19.37:g.43414761C>T	ENSP00000292125:p.Arg226His					PSG6_ENST00000292125.2_Missense_Mutation_p.R226H|PSG6_ENST00000402603.4_Missense_Mutation_p.R226H	p.R226H	NM_001031850.3	NP_001027020.1					3	742	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.677G>A	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	5.134	0.210346	0.09757	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.12672	2.66;2.66;2.66	1.63	-3.26	0.05064	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14657	0.0354	M	0.66560	2.04	0.09310	N	1	P;B;P	0.47253	0.892;0.129;0.501	B;B;B	0.42916	0.391;0.099;0.402	T	0.03354	-1.1045	9	0.52906	T	0.07	.	6.7511	0.23487	0.0:0.4202:0.0:0.5798	rs9748;rs17399468	226;226;226	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	H	226	ENSP00000187910:R226H;ENSP00000385736:R226H;ENSP00000292125:R226H	ENSP00000187910:R226H	R	-	2	0	PSG6	48106601	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.465000	0.02357	-1.490000	0.01842	-1.128000	0.01989	CGC		0.522	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		14	291	0	0	0	1	0	14	291				
DPH1	1801	broad.mit.edu	37	17	1943643	1943643	+	Missense_Mutation	SNP	G	G	A	rs201983229		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:1943643G>A	ENST00000263083.6	+	8	941	c.896G>A	c.(895-897)cGc>cAc	p.R299H	DPH1_ENST00000570477.1_Missense_Mutation_p.R219H|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	299					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACTTTGGGCCGCCAGGGCAGT	0.602																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(895-897)cGc>cAc		diphthamide biosynthesis 1		G	HIS/ARG	2,3900		0,2,1949	49.0	50.0	49.0		896	5.1	1.0	17		49	0,8312		0,0,4156	yes	missense	DPH1	NM_001383.3	29	0,2,6105	AA,AG,GG		0.0,0.0513,0.0164	probably-damaging	299/444	1943643	2,12212	1951	4156	6107	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943643G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.896G>A	17.37:g.1943643G>A	ENSP00000263083:p.Arg299His					DPH1_ENST00000570477.1_Missense_Mutation_p.R219H	p.R299H	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			8	941	+			299					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.896G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139864	0.94560	5.13E-4	0.0	ENSG00000108963	ENST00000263083	T	0.50548	0.74	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.89785	3.06	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.992	P;P;P	0.58928	0.848;0.848;0.848	T	0.79160	-0.1918	10	0.72032	D	0.01	-16.2111	17.1373	0.86743	0.0:0.0:1.0:0.0	.	309;309;299	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	H	299	ENSP00000263083:R299H	ENSP00000263083:R299H	R	+	2	0	DPH1	1890393	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.384000	0.79751	2.380000	0.81148	0.491000	0.48974	CGC		0.602	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		14	61	0	0	0	1	0	14	61				
MARK2	2011	broad.mit.edu	37	11	63672399	63672399	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:63672399G>A	ENST00000509502.2	+	16	2179	c.1716G>A	c.(1714-1716)cgG>cgA	p.R572R	MARK2_ENST00000315032.8_Silent_p.R606R|MARK2_ENST00000413835.2_Silent_p.R552R|MARK2_ENST00000402010.2_Silent_p.R606R|MARK2_ENST00000425897.2_Silent_p.R526R|MARK2_ENST00000513765.2_Silent_p.R573R|MARK2_ENST00000377810.3_Silent_p.R518R|MARK2_ENST00000350490.7_Silent_p.R551R|MARK2_ENST00000502399.3_Silent_p.R605R|MARK2_ENST00000508192.1_Silent_p.R551R|MARK2_ENST00000408948.3_Silent_p.R518R|MARK2_ENST00000361128.5_Silent_p.R552R|MARK2_ENST00000377809.4_Silent_p.R606R	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GACAGGTGCGGGACCAGCAGA	0.642																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1816-1818)cgG>cgA		MAP/microtubule affinity-regulating kinase 2							63.0	64.0	64.0					11																	63672399		2201	4297	6498	SO:0001819	synonymous_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63672399G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1716G>A	11.37:g.63672399G>A						MARK2_ENST00000361128.5_Silent_p.R552R|MARK2_ENST00000509502.2_Silent_p.R572R|MARK2_ENST00000377810.3_Silent_p.R518R|MARK2_ENST00000425897.2_Silent_p.R526R|MARK2_ENST00000513765.2_Silent_p.R573R|MARK2_ENST00000377809.4_Silent_p.R606R|MARK2_ENST00000502399.3_Silent_p.R605R|MARK2_ENST00000408948.3_Silent_p.R518R|MARK2_ENST00000508192.1_Silent_p.R551R|MARK2_ENST00000413835.2_Silent_p.R552R|MARK2_ENST00000350490.7_Silent_p.R551R|MARK2_ENST00000315032.8_Silent_p.R606R	p.R606R	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			16	2397	+			606						Silent	SNP	ENST00000509502.2	37	c.1818G>A	CCDS41665.1																																																																																				0.642	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		4	145	0	0	0	1	0	4	145				
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418																																						ENST00000421239.2																			0											c.(931-933)Ggt>Agt		zinc finger protein 578							104.0	107.0	106.0					19																	53014565		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014565G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.931G>A	19.37:g.53014565G>A	ENSP00000459216:p.Gly311Ser					CTD-3099C6.5_ENST00000599143.1_RNA	p.G311S	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1175	+			86					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.931G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084506	0.55861	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.26048	0.0635	L	0.41492	1.28	0.22827	N	0.998689	P	0.37708	0.606	B	0.37833	0.259	T	0.12218	-1.0556	7	.	.	.	.	5.0884	0.14694	0.2005:0.0:0.7995:0.0	.	311	G3V4F6	.	S	311	.	.	G	+	1	0	ZNF578	57706377	0.608000	0.26966	0.249000	0.24280	0.125000	0.20455	3.734000	0.55037	0.767000	0.33267	0.297000	0.19635	GGT		0.418	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		3	93	0	0	0	1	0	3	93				
NRXN1	9378	broad.mit.edu	37	2	50149344	50149344	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:50149344G>C	ENST00000406316.2	-	22	5648	c.4172C>G	c.(4171-4173)gCa>gGa	p.A1391G	NRXN1_ENST00000404971.1_Missense_Mutation_p.A1461G|NRXN1_ENST00000342183.5_Missense_Mutation_p.A356G|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1391G|NRXN1_ENST00000401710.1_Missense_Mutation_p.A409G|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1421G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1391					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATCACTTCTGCTGAGCCTGG	0.532																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4381-4383)gCa>gGa		neurexin 1							60.0	51.0	54.0					2																	50149344		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50149344G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4172C>G	2.37:g.50149344G>C	ENSP00000384311:p.Ala1391Gly					NRXN1_ENST00000402717.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1421G|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1391G|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1391G|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401710.1_Missense_Mutation_p.A409G|NRXN1_ENST00000342183.5_Missense_Mutation_p.A356G	p.A1461G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		24	5721	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1391					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4382C>G	CCDS54360.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	10.19|10.19|10.19	1.282844|1.282844|1.282844	0.23392|0.23392|0.23392	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000412315|ENST00000378262	T;T;T;T;T;T;T;T|.|T	0.70399|.|0.64260	1.03;2.2;0.23;0.18;-0.48;-0.37;-0.08;0.05|.|-0.09	5.95|5.95|5.95	5.95|5.95|5.95	0.96441|0.96441|0.96441	.|.|.	0.428033|.|.	0.17506|.|.	U|.|.	0.171786|.|.	T|T|T	0.64238|0.64238|0.64238	0.2580|0.2580|0.2580	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.20403|0.20403|0.20403	N|N|N	0.999901|0.999901|0.999901	B;B;B;B;B;B|.|.	0.25007|.|.	0.002;0.053;0.116;0.015;0.032;0.013|.|.	B;B;B;B;B;B|.|.	0.29524|.|.	0.006;0.096;0.103;0.008;0.044;0.025|.|.	T|T|T	0.61695|0.61695|0.61695	-0.7010|-0.7010|-0.7010	10|5|7	0.52906|.|0.72032	T|.|D	0.07|.|0.01	.|.|.	15.9241|15.9241|15.9241	0.79603|0.79603|0.79603	0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357	.|.|.	56;1461;356;1391;1410;53|.|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.|.	.;.;NRX1B_HUMAN;.;.;.|.|.	G|E|R	356;310;409;1461;1391;1413;1421;1462;1413;1391|124|57	ENSP00000341184:A356G;ENSP00000385580:A409G;ENSP00000385142:A1461G;ENSP00000384311:A1391G;ENSP00000434015:A1413G;ENSP00000385017:A1421G;ENSP00000385434:A1413G;ENSP00000385681:A1391G|.|ENSP00000367510:S57R	ENSP00000341184:A356G|.|ENSP00000367510:S57R	A|Q|S	-|-|-	2|1|3	0|0|2	NRXN1|NRXN1|NRXN1	50002848|50002848|50002848	0.995000|0.995000|0.995000	0.38212|0.38212|0.38212	0.912000|0.912000|0.912000	0.35992|0.35992|0.35992	0.973000|0.973000|0.973000	0.67179|0.67179|0.67179	6.016000|6.016000|6.016000	0.70798|0.70798|0.70798	2.817000|2.817000|2.817000	0.96982|0.96982|0.96982	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCA|CAG|AGC		0.532	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			21	40	0	0	0	1	0	21	40				
HIBADH	11112	broad.mit.edu	37	7	27570874	27570874	+	Silent	SNP	C	C	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:27570874C>A	ENST00000265395.2	-	7	995	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	263					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CGCCATCCATCACTCCAGGTA	0.443																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(787-789)gtG>gtT		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						140.0	121.0	128.0					7																	27570874		2203	4300	6503	SO:0001819	synonymous_variant	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27570874C>A	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.789G>T	7.37:g.27570874C>A							p.V263V	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		7	995	-			263					Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	c.789G>T	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660103	0.03454	.	.	ENSG00000106049	ENST00000425715	.	.	.	6.17	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.0862	8.3201	0.32124	0.1229:0.6928:0.1136:0.0708	.	.	.	.	L	206	.	.	X	-	2	2	HIBADH	27537399	0.996000	0.38824	1.000000	0.80357	0.285000	0.27093	0.412000	0.21131	1.564000	0.49628	0.655000	0.94253	TGA		0.443	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		6	71	1	0	0.00307968	1	0.00307968	6	71				
HSP90AA1	3320	broad.mit.edu	37	14	102549628	102549628	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:102549628C>T	ENST00000216281.8	-	9	1703	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D321N|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.D622N	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	500					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GCTACCTGGTCCTTGGTCTCA	0.418																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1864-1866)Gac>Aac		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						114.0	110.0	112.0					14																	102549628		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549628C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1498G>A	14.37:g.102549628C>T	ENSP00000216281:p.Asp500Asn					HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D321N|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.D500N	p.D622N	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			10	2145	-			500					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1864G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	33	5.199221	0.94997	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09911	2.93;2.93;2.93	4.44	4.44	0.53790	Ribosomal protein S5 domain 2-type fold (1);	0.180292	0.46145	U	0.000305	T	0.28034	0.0691	M	0.67569	2.06	0.80722	D	1	P;D;P	0.58620	0.528;0.983;0.941	P;P;P	0.58520	0.548;0.84;0.811	T	0.02966	-1.1088	10	0.54805	T	0.06	-40.3149	17.4478	0.87583	0.0:1.0:0.0:0.0	.	321;622;500	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	N	500;622;321	ENSP00000216281:D500N;ENSP00000335153:D622N;ENSP00000396189:D321N	ENSP00000216281:D500N	D	-	1	0	HSP90AA1	101619381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.565000	0.82337	2.192000	0.70111	0.655000	0.94253	GAC		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		6	77	0	0	0	1	0	6	77				
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:186276100A>C	ENST00000445192.2	+	7	1294	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T417P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T417P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1249-1251)Acc>Ccc		proteoglycan 4																																				SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276100A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1249A>C	1.37:g.186276100A>C	ENSP00000399679:p.Thr417Pro					PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367484.3_Intron	p.T417P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1294	+			417			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1249A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.624	0.483511	0.12581	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04970	3.57;3.67;3.52;3.69	3.27	-6.55	0.01854	.	.	.	.	.	T	0.01353	0.0044	N	0.00332	-1.63	0.09310	N	0.999997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.49293	-0.8955	8	.	.	.	.	10.0961	0.42475	0.609:0.2011:0.1899:0.0	.	283;324;417;376	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	374;283;376;324;417	ENSP00000356456:T374P;ENSP00000356453:T376P;ENSP00000356455:T324P;ENSP00000399679:T417P	.	T	+	1	0	PRG4	184542723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.528000	0.02225	-2.241000	0.00709	-2.624000	0.00155	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	73	0	0	0	1	0	4	73				
GPR101	83550	broad.mit.edu	37	X	136112949	136112949	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chrX:136112949C>G	ENST00000298110.1	-	1	884	c.885G>C	c.(883-885)gaG>gaC	p.E295D		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTACACTACTCTCACTGGTCC	0.617																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(883-885)gaG>gaC		G protein-coupled receptor 101							223.0	153.0	177.0					X																	136112949		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112949C>G	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.885G>C	X.37:g.136112949C>G	ENSP00000298110:p.Glu295Asp						p.E295D	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	884	-	Acute lymphoblastic leukemia(192;0.000127)		295					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.885G>C	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.544	-0.852336	0.02651	.	.	ENSG00000165370	ENST00000298110	T	0.63255	-0.03	3.84	-0.164	0.13359	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.18650	-1.0330	9	0.13853	T	0.58	-4.8903	3.9819	0.09498	0.3183:0.4773:0.0:0.2043	.	295	Q96P66	GP101_HUMAN	D	295	ENSP00000298110:E295D	ENSP00000298110:E295D	E	-	3	2	GPR101	135940615	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	0.235000	0.17948	-0.169000	0.10834	0.600000	0.82982	GAG		0.617	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			30	262	0	0	0	1	0	30	262				
VAMP3	9341	broad.mit.edu	37	1	7837370	7837370	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:7837370A>T	ENST00000054666.6	+	3	338	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	VAMP3_ENST00000470357.1_Missense_Mutation_p.N47Y|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	75					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TTGGTGGAAGAATTGCAAGGT	0.448																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(223-225)Aat>Tat		vesicle-associated membrane protein 3							87.0	85.0	86.0					1																	7837370		2203	4300	6503	SO:0001583	missense	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7837370A>T	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.223A>T	1.37:g.7837370A>T	ENSP00000054666:p.Asn75Tyr					VAMP3_ENST00000470357.1_Missense_Mutation_p.N47Y	p.N75Y	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	338	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	75					Q9BRV4	Missense_Mutation	SNP	ENST00000054666.6	37	c.223A>T	CCDS88.1	.	.	.	.	.	.	.	.	.	.	A	31	5.071085	0.93950	.	.	ENSG00000049245	ENST00000054666	T	0.55234	0.53	6.17	6.17	0.99709	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90070	0.4162	10	0.87932	D	0	-27.6881	16.8222	0.85835	1.0:0.0:0.0:0.0	.	75	Q15836	VAMP3_HUMAN	Y	75	ENSP00000054666:N75Y	ENSP00000054666:N75Y	N	+	1	0	VAMP3	7759957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.237000	0.95368	2.371000	0.80710	0.533000	0.62120	AAT		0.448	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		3	21	0	0	0	1	0	3	21				
ATAD5	79915	broad.mit.edu	37	17	29196274	29196274	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:29196274G>A	ENST00000321990.4	+	13	3700	c.3322G>A	c.(3322-3324)Ggt>Agt	p.G1108S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1108					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTCTCGGGTGGCATAGA	0.393																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3322-3324)Ggt>Agt		ATPase family, AAA domain containing 5							100.0	97.0	98.0					17																	29196274		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196274G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3322G>A	17.37:g.29196274G>A	ENSP00000313171:p.Gly1108Ser						p.G1108S	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			13	3700	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1108					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3322G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	5.505	0.278123	0.10403	.	.	ENSG00000176208	ENST00000321990	T	0.05786	3.39	5.62	3.43	0.39272	.	1.719510	0.03447	N	0.210105	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.004	T	0.33445	-0.9868	10	0.20046	T	0.44	.	10.0674	0.42313	0.1376:0.0:0.7407:0.1217	.	1108;1108	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	S	1108	ENSP00000313171:G1108S	ENSP00000313171:G1108S	G	+	1	0	ATAD5	26220400	0.612000	0.27000	0.003000	0.11579	0.067000	0.16453	3.316000	0.51960	1.363000	0.46019	0.591000	0.81541	GGT		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		8	49	0	0	0	1	0	8	49				
FER1L6	654463	broad.mit.edu	37	8	124992869	124992869	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr8:124992869G>T	ENST00000522917.1	+	11	1434	c.1228G>T	c.(1228-1230)Gca>Tca	p.A410S	FER1L6_ENST00000399018.1_Missense_Mutation_p.A410S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	410						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCAGGACGGGCACAGGAATC	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1228-1230)Gca>Tca		fer-1-like 6 (C. elegans)							118.0	121.0	120.0					8																	124992869		1878	4105	5983	SO:0001583	missense	654463					integral to membrane		g.chr8:124992869G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1228G>T	8.37:g.124992869G>T	ENSP00000428280:p.Ala410Ser		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538	FER1L6_ENST00000399018.1_Missense_Mutation_p.A410S	p.A410S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		11	1434	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		410						Missense_Mutation	SNP	ENST00000522917.1	37	c.1228G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489224	0.12641	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81499	-1.5;-1.5	5.53	3.63	0.41609	.	1.265550	0.06236	U	0.689554	T	0.67878	0.2940	N	0.20401	0.57	0.39687	D	0.970988	B	0.17268	0.021	B	0.11329	0.006	T	0.49331	-0.8951	10	0.10377	T	0.69	.	10.3075	0.43689	0.0701:0.0:0.7956:0.1343	.	410	Q2WGJ9	FR1L6_HUMAN	S	410	ENSP00000428280:A410S;ENSP00000381982:A410S	ENSP00000381982:A410S	A	+	1	0	FER1L6	125062050	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.900000	0.39828	1.346000	0.45694	0.655000	0.94253	GCA		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		18	107	1	0	7.41877e-09	1	7.71552e-09	18	107				
CXCR1	3577	broad.mit.edu	37	2	219029655	219029655	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:219029655T>C	ENST00000295683.2	-	2	400	c.280A>G	c.(280-282)Atc>Gtc	p.I94V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	94					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GCGGCCCAGATGGGCAAGGTC	0.557																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(280-282)Atc>Gtc		chemokine (C-X-C motif) receptor 1							102.0	99.0	100.0					2																	219029655		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029655T>C	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.280A>G	2.37:g.219029655T>C	ENSP00000295683:p.Ile94Val						p.I94V	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	400	-			94					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.280A>G	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.691602	0.30052	.	.	ENSG00000163464	ENST00000295683	T	0.36878	1.23	5.35	-0.818	0.10833	GPCR, rhodopsin-like superfamily (1);	0.170895	0.51477	N	0.000093	T	0.18467	0.0443	L	0.27944	0.81	0.24730	N	0.993095	B	0.13594	0.008	B	0.21360	0.034	T	0.07252	-1.0782	10	0.39692	T	0.17	.	2.1748	0.03859	0.359:0.0764:0.1188:0.4458	.	94	P25024	CXCR1_HUMAN	V	94	ENSP00000295683:I94V	ENSP00000295683:I94V	I	-	1	0	CXCR1	218737900	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	-0.258000	0.08733	0.298000	0.22638	0.533000	0.62120	ATC		0.557	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		41	87	0	0	0	1	0	41	87				
LYAR	55646	broad.mit.edu	37	4	4276212	4276212	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr4:4276212G>A	ENST00000343470.4	-	7	954	c.714C>T	c.(712-714)gtC>gtT	p.V238V	LYAR_ENST00000452476.1_Silent_p.V238V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	238	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCCTCAGGGACTTCCTCCC	0.547																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(712-714)gtC>gtT		Ly1 antibody reactive							253.0	244.0	247.0					4																	4276212		2203	4300	6503	SO:0001819	synonymous_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276212G>A	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.714C>T	4.37:g.4276212G>A						LYAR_ENST00000452476.1_Silent_p.V238V	p.V238V	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	954	-			238			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	c.714C>T	CCDS3374.1																																																																																				0.547	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		114	133	0	0	0	1	0	114	133				
TCF20	6942	broad.mit.edu	37	22	42610592	42610592	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:42610592G>A	ENST00000359486.3	-	1	856	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_ENST00000335626.4_Silent_p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	240	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(718-720)tcC>tcT		transcription factor 20 (AR1)							97.0	82.0	87.0					22																	42610592		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610592G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.720C>T	22.37:g.42610592G>A						TCF20_ENST00000335626.4_Silent_p.S240S	p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	856	-			240			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.720C>T	CCDS14033.1																																																																																				0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		3	75	0	0	0	1	0	3	75				
COL11A2	1302	broad.mit.edu	37	6	33141287	33141287	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33141287C>G	ENST00000374708.4	-	34	2674	c.2416G>C	c.(2416-2418)Gga>Cga	p.G806R	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G811R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G871R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G892R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G845R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G785R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G866R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G832R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	892	Collagen-like 4.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCGGGGGTCCTTTCGGTCCA	0.612																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2674-2676)Gga>Cga		collagen, type XI, alpha 2							51.0	62.0	58.0					6																	33141287		2201	4296	6497	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33141287C>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2416G>C	6.37:g.33141287C>G	ENSP00000363840:p.Gly806Arg					COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G811R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G806R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G871R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G866R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G832R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G785R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G845R	p.G892R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			36	2901	-			892			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2674G>C	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481826	0.84747	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99353	-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.77;-5.77	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.97543	1.0087	10	0.87932	D	0	.	14.0539	0.64754	0.0:1.0:0.0:0.0	.	785;806;892	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	806;892;871;866;845;832;811;785	ENSP00000363840:G806R;ENSP00000339915:G892R;ENSP00000350079:G871R;ENSP00000363846:G866R;ENSP00000363845:G845R;ENSP00000378623:G832R;ENSP00000363844:G811R;ENSP00000355123:G785R	ENSP00000339915:G892R	G	-	1	0	COL11A2	33249265	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.497000	0.81536	2.246000	0.74042	0.637000	0.83480	GGA		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			11	103	0	0	0	1	0	11	103				
LEMD2	221496	broad.mit.edu	37	6	33744785	33744785	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33744785T>C	ENST00000293760.5	-	8	1326	c.1307A>G	c.(1306-1308)tAt>tGt	p.Y436C	LEMD2_ENST00000502643.1_5'Flank|LEMD2_ENST00000508327.1_Missense_Mutation_p.Y134C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	436					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TACATATGGATAGCGCTCCAT	0.622																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1306-1308)tAt>tGt		LEM domain containing 2							119.0	95.0	103.0					6																	33744785		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744785T>C		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1307A>G	6.37:g.33744785T>C	ENSP00000293760:p.Tyr436Cys					LEMD2_ENST00000508327.1_Missense_Mutation_p.Y134C	p.Y436C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			8	1326	-			436					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1307A>G	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308969	0.81247	.	.	ENSG00000161904	ENST00000506578;ENST00000293760;ENST00000508327	.	.	.	5.66	5.66	0.87406	Inner nuclear membrane protein MAN1 (1);	0.000000	0.52532	D	0.000072	T	0.63414	0.2509	L	0.44542	1.39	0.50313	D	0.999863	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.68368	-0.5427	9	0.72032	D	0.01	-4.5504	15.9078	0.79445	0.0:0.0:0.0:1.0	.	436;397	Q8NC56;A8MS91	LEMD2_HUMAN;.	C	19;436;134	.	ENSP00000293760:Y436C	Y	-	2	0	LEMD2	33852763	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.038000	0.57318	2.144000	0.66660	0.460000	0.39030	TAT		0.622	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		12	69	0	0	0	1	0	12	69				
STAC3	246329	broad.mit.edu	37	12	57640655	57640655	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr12:57640655C>T	ENST00000332782.2	-	6	736	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	STAC3_ENST00000554578.1_Missense_Mutation_p.E140K|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	179					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGCAGGGTTTCAAACACAGGA	0.507																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(535-537)Gaa>Aaa		SH3 and cysteine rich domain 3							247.0	198.0	215.0					12																	57640655		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57640655C>T	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.535G>A	12.37:g.57640655C>T	ENSP00000329200:p.Glu179Lys					STAC3_ENST00000554578.1_Missense_Mutation_p.E140K|STAC3_ENST00000546246.2_5'UTR	p.E179K	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			6	736	-			179					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.535G>A	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338384	0.81911	.	.	ENSG00000185482	ENST00000554578;ENST00000332782	D;D	0.83419	-1.68;-1.72	4.74	4.74	0.60224	.	0.110120	0.64402	D	0.000014	T	0.76111	0.3942	L	0.47190	1.495	0.80722	D	1	P	0.37781	0.608	B	0.26864	0.074	T	0.78565	-0.2155	10	0.45353	T	0.12	-0.3612	17.3708	0.87377	0.0:1.0:0.0:0.0	.	179	Q96MF2	STAC3_HUMAN	K	140;179	ENSP00000452068:E140K;ENSP00000329200:E179K	ENSP00000329200:E179K	E	-	1	0	STAC3	55926922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.961000	0.76042	2.573000	0.86826	0.655000	0.94253	GAA		0.507	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		12	230	0	0	0	1	0	12	230				
ETV5	2119	broad.mit.edu	37	3	185766571	185766571	+	Missense_Mutation	SNP	G	G	A	rs201212469		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:185766571G>A	ENST00000306376.5	-	13	1636	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.R506C|ETV5_ENST00000434744.1_Missense_Mutation_p.R464C	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	464					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGAACGGACGCTGGTTATCC	0.577			T	"""TMPRSS2, SCL45A3"""	Prostate								G|||	1	0.000199681	0.0	0.0	5008	,	,		16639	0.0		0.001	False		,,,				2504	0.0					ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1390-1392)Cgt>Tgt		ets variant 5							76.0	66.0	69.0					3																	185766571		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185766571G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1390C>T	3.37:g.185766571G>A	ENSP00000306894:p.Arg464Cys					ETV5_ENST00000434744.1_Missense_Mutation_p.R464C|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.R506C	p.R464C	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		13	1636	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		464					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1390C>T	CCDS33906.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.60	2.584383	0.46110	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.55930	0.49;0.49;0.49	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.66939	2.045	0.58432	D	0.999998	P;D	0.89917	0.706;1.0	B;D	0.76071	0.135;0.987	T	0.72447	-0.4291	10	0.66056	D	0.02	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	464;506	P41161;B7Z7D7	ETV5_HUMAN;.	C	464;464;506	ENSP00000306894:R464C;ENSP00000413755:R464C;ENSP00000441737:R506C	ENSP00000306894:R464C	R	-	1	0	ETV5	187249265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.441000	0.52893	2.882000	0.98803	0.655000	0.94253	CGT		0.577	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		28	31	0	0	0	1	0	28	31				
RECK	8434	broad.mit.edu	37	9	36118962	36118962	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr9:36118962C>G	ENST00000377966.3	+	18	3028	c.2462C>G	c.(2461-2463)cCg>cGg	p.P821R		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	821					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATCATCCCACCGGGTAGGCTG	0.557																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2461-2463)cCg>cGg		reversion-inducing-cysteine-rich protein with kazal motifs							64.0	61.0	62.0					9																	36118962		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36118962C>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2462C>G	9.37:g.36118962C>G	ENSP00000367202:p.Pro821Arg						p.P821R	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		18	3028	+			821					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2462C>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238139	0.79800	.	.	ENSG00000122707	ENST00000377966	T	0.53640	0.61	5.52	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.69030	-0.5253	10	0.72032	D	0.01	-6.7416	14.5557	0.68100	0.0:0.8527:0.1473:0.0	.	821;821	A8K9D8;O95980	.;RECK_HUMAN	R	821	ENSP00000367202:P821R	ENSP00000367202:P821R	P	+	2	0	RECK	36108962	1.000000	0.71417	0.787000	0.31911	0.856000	0.48823	7.354000	0.79424	1.460000	0.47911	0.655000	0.94253	CCG		0.557	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			7	148	0	0	0	1	0	7	148				
RPUSD1	113000	broad.mit.edu	37	16	837116	837116	+	Missense_Mutation	SNP	C	C	T	rs2272898	byFrequency	TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:837116C>T	ENST00000561734.1	-	3	613	c.370G>A	c.(370-372)Gag>Aag	p.E124K	CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.E124K|RPUSD1_ENST00000565809.1_Intron|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000567114.1_5'UTR|CHTF18_ENST00000262315.9_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	124			E -> Q (in dbSNP:rs2272898).		pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCCCGGCCCTCCGTGCTGTTC	0.692																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(370-372)Gag>Aag		RNA pseudouridylate synthase domain containing 1							43.0	41.0	42.0					16																	837116		2185	4299	6484	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837116C>T	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.370G>A	16.37:g.837116C>T	ENSP00000455026:p.Glu124Lys					RPUSD1_ENST00000007264.2_Missense_Mutation_p.E124K|RPUSD1_ENST00000565809.1_Intron|RPUSD1_ENST00000567114.1_5'UTR	p.E124K			Q9UJJ7	RUSD1_HUMAN			3	613	-		Hepatocellular(780;0.00335)	124		E -> Q (in dbSNP:rs2272898).			D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.370G>A	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225172	0.58668	.	.	ENSG00000007376	ENST00000007264	T	0.21031	2.03	4.4	4.4	0.53042	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.101193	0.64402	D	0.000003	T	0.25158	0.0611	L	0.39245	1.2	0.80722	D	1	P	0.37423	0.594	B	0.43052	0.406	T	0.05954	-1.0854	10	0.62326	D	0.03	-24.6569	15.6996	0.77533	0.0:1.0:0.0:0.0	.	124	Q9UJJ7	RUSD1_HUMAN	K	124	ENSP00000007264:E124K	ENSP00000007264:E124K	E	-	1	0	RPUSD1	777117	1.000000	0.71417	0.520000	0.27837	0.749000	0.42624	6.911000	0.75746	2.277000	0.76020	0.549000	0.68633	GAG		0.692	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		4	55	0	0	0	1	0	4	55				
AHNAK2	113146	broad.mit.edu	37	14	105421471	105421471	+	Silent	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:105421471C>T	ENST00000333244.5	-	6	593	c.474G>A	c.(472-474)caG>caA	p.Q158Q	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	158	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TACTGAGCAGCTGATCCCCTA	0.502																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(472-474)caG>caA		AHNAK nucleoprotein 2							50.0	53.0	52.0					14																	105421471		1901	4110	6011	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105421471C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.474G>A	14.37:g.105421471C>T							p.Q158Q	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	593	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	158			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.474G>A	CCDS45177.1																																																																																				0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	81	0	0	0	1	0	4	81				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	44	0	0	0	1	0	25	44				
FANCM	57697	broad.mit.edu	37	14	45656993	45656993	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:45656993T>C	ENST00000267430.5	+	19	4767	c.4682T>C	c.(4681-4683)aTg>aCg	p.M1561T	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.M1535T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1561					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTCTGAAATGAGAGCTATT	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(4681-4683)aTg>aCg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							45.0	44.0	44.0					14																	45656993		2202	4295	6497	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45656993T>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4682T>C	14.37:g.45656993T>C	ENSP00000267430:p.Met1561Thr					FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.M1535T	p.M1561T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			19	4767	+			1561					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.4682T>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626408	0.66901	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.78003	-1.14;-1.14;-1.14	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.73962	2.25	0.43381	D	0.99548	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.977	D	0.87007	0.2120	10	0.45353	T	0.12	.	13.9376	0.64034	0.0:0.0:0.0:1.0	.	1535;1561	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	T	1561;1535;1077	ENSP00000267430:M1561T;ENSP00000442493:M1535T;ENSP00000452033:M1077T	ENSP00000267430:M1561T	M	+	2	0	FANCM	44726743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.658000	0.68003	1.980000	0.57719	0.533000	0.62120	ATG		0.254	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		14	8	0	0	0	1	0	14	8				
AFF3	3899	broad.mit.edu	37	2	100209825	100209825	+	Silent	SNP	G	G	C	rs143928698		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:100209825G>C	ENST00000409236.2	-	13	2410	c.2298C>G	c.(2296-2298)ctC>ctG	p.L766L	AFF3_ENST00000356421.2_Silent_p.L791L|AFF3_ENST00000317233.4_Silent_p.L766L|AFF3_ENST00000409579.1_Silent_p.L791L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	766					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTTGACCCAGAGAGACCTGA	0.582																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2296-2298)ctC>ctG		AF4/FMR2 family, member 3		G	,	1,4405	2.1+/-5.4	0,1,2202	69.0	64.0	66.0		2373,2298	2.5	1.0	2	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	,	791/1252,766/1227	100209825	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209825G>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2298C>G	2.37:g.100209825G>C						AFF3_ENST00000409236.1_Silent_p.L766L|AFF3_ENST00000409579.1_Silent_p.L791L|AFF3_ENST00000356421.2_Silent_p.L791L	p.L766L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2533	-			766					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2298C>G	CCDS42723.1																																																																																				0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		3	67	0	0	0	1	0	3	67				
ZNF554	115196	broad.mit.edu	37	19	2827692	2827692	+	Silent	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:2827692C>T	ENST00000317243.5	+	3	402	c.204C>T	c.(202-204)aaC>aaT	p.N68N	ZNF554_ENST00000591265.1_Silent_p.N68N	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGAAGAACCTGTACAGAG	0.483																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(202-204)aaC>aaT		zinc finger protein 554							95.0	107.0	103.0					19																	2827692		2202	4300	6502	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2827692C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.204C>T	19.37:g.2827692C>T						ZNF554_ENST00000591265.1_Silent_p.N68N	p.N68N	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	402	+		Hepatocellular(1079;0.137)	68			KRAB.		Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.204C>T	CCDS42462.1																																																																																				0.483	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		14	50	0	0	0	1	0	14	50				
TUBGCP6	85378	broad.mit.edu	37	22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:50659166T>C	ENST00000248846.5	-	16	3726	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T1208A			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGGCCGGGTGGGAGCCATG	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3622-3624)Acc>Gcc		tubulin, gamma complex associated protein 6							68.0	62.0	64.0					22																	50659166		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659166T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3622A>G	22.37:g.50659166T>C	ENSP00000248846:p.Thr1208Ala					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR	p.T1208A	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4114	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1208			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3622A>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	N	0.262	-0.998869	0.02128	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.11063	3.2;2.81	4.53	-2.94	0.05581	.	3.633440	0.01029	N	0.004116	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.17098	0.001;0.017;0.001	T	0.34054	-0.9844	10	0.23302	T	0.38	.	7.6347	0.28259	0.3123:0.4377:0.0:0.25	.	1200;1208;1208	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	A	1208	ENSP00000248846:T1208A;ENSP00000397387:T1208A	ENSP00000248846:T1208A	T	-	1	0	TUBGCP6	49001293	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-1.348000	0.02629	-0.593000	0.05844	-0.432000	0.05891	ACC		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	115	0	0	0	1	0	4	115				
C19orf57	79173	broad.mit.edu	37	19	14003691	14003691	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:14003691T>C	ENST00000586783.1	-	4	300	c.301A>G	c.(301-303)Agg>Ggg	p.R101G	C19orf57_ENST00000346736.2_Missense_Mutation_p.R101G|C19orf57_ENST00000454313.1_Missense_Mutation_p.R101G|C19orf57_ENST00000591586.1_Missense_Mutation_p.R101G			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	101					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGAACAAACCTCCCGAATGAG	0.458																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(301-303)Agg>Ggg		chromosome 19 open reading frame 57							102.0	95.0	97.0					19																	14003691		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14003691T>C	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.301A>G	19.37:g.14003691T>C	ENSP00000465822:p.Arg101Gly					C19orf57_ENST00000591586.1_Missense_Mutation_p.R101G|C19orf57_ENST00000346736.2_Missense_Mutation_p.R101G|C19orf57_ENST00000586783.1_Missense_Mutation_p.R101G	p.R101G			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		5	359	-			101					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	T	15.67	2.903463	0.52333	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.36878	1.23;1.23	4.85	4.85	0.62838	.	0.314770	0.23265	N	0.050083	T	0.45617	0.1351	L	0.32530	0.975	0.26347	N	0.97727	D	0.71674	0.998	D	0.66979	0.948	T	0.31558	-0.9939	10	0.72032	D	0.01	-17.5688	10.9823	0.47501	0.0:0.0:0.0:1.0	.	101	Q0VDD7-2	.	G	101	ENSP00000404382:R101G;ENSP00000254336:R101G	ENSP00000254336:R101G	R	-	1	2	C19orf57	13864691	0.970000	0.33590	0.665000	0.29768	0.333000	0.28666	3.492000	0.53259	2.151000	0.67156	0.459000	0.35465	AGG		0.458	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		23	29	0	0	0	1	0	23	29				
ATP1A2	477	broad.mit.edu	37	1	160105253	160105253	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:160105253G>A	ENST00000361216.3	+	16	2234	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ATP1A2_ENST00000392233.3_Silent_p.G715G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	715			G -> R (in FHM2; de novo mutation in a sporadic case). {ECO:0000269|PubMed:21352219}.		adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGGTGACGGGGTGAACGACT	0.602																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2143-2145)ggG>ggA		ATPase, Na+/K+ transporting, alpha 2 polypeptide							172.0	124.0	140.0					1																	160105253		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160105253G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2145G>A	1.37:g.160105253G>A						ATP1A2_ENST00000392233.3_Silent_p.G715G|ATP1A2_ENST00000472488.1_3'UTR	p.G715G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		16	2234	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		715		G -> R (in FHM2; de novo mutation in a sporadic case).			D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.2145G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012326	0.19277	.	.	ENSG00000018625	ENST00000447527	D	0.99483	-5.99	4.31	-2.77	0.05877	.	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94172	0.7424	7	0.87932	D	0	.	0.9605	0.01394	0.2612:0.1214:0.1724:0.445	.	.	.	.	E	426	ENSP00000411705:G426E	ENSP00000411705:G426E	G	+	2	0	ATP1A2	158371877	0.000000	0.05858	0.892000	0.35008	0.867000	0.49689	-2.311000	0.01128	-0.395000	0.07715	0.561000	0.74099	GGG		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		5	116	0	0	0	1	0	5	116				
AC010745.3	0	broad.mit.edu	37	2	16409482	16409483	+	lincRNA	INS	-	-	C	rs375255182|rs371568050|rs149678427|rs142105920	byFrequency	TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:16409482_16409483insC	ENST00000439745.1	-	0	0				AC010745.2_ENST00000420404.1_lincRNA																							TCCTTCCTGGGaccccgccccg	0.604																																						ENST00000420404.1																			0																																																			0							g.chr2:16409482_16409483insC																													2.37:g.16409482_16409483insC														0	289	+									RNA	INS	ENST00000439745.1	37																																																																																						0.604	AC010745.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323747.1			7	7						7	7	---	---	---	---
LINC00499	100874047	broad.mit.edu	37	4	139233976	139233978	+	lincRNA	DEL	CTC	CTC	-			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr4:139233976_139233978delCTC	ENST00000510736.1	+	0	106				LINC00498_ENST00000504369.1_lincRNA					long intergenic non-protein coding RNA 499																		ctgcccctttctcctcctcctcc	0.498																																						ENST00000510736.1																			0																																																			0							g.chr4:139233976_139233978delCTC			4q28.3	2012-10-12			ENSG00000251372	ENSG00000251372		"""Long non-coding RNAs"""	43436	non-coding RNA	RNA, long non-coding							Standard	NR_051987		Approved		uc031sha.1		OTTHUMG00000161286		4.37:g.139233985_139233987delCTC														0	106	+									RNA	DEL	ENST00000510736.1	37																																																																																						0.498	LINC00499-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000364391.1			3	5						3	5	---	---	---	---
RP11-141M1.3	0	broad.mit.edu	37	13	33942665	33942667	+	lincRNA	DEL	CAG	CAG	-			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr13:33942665_33942667delCAG	ENST00000454681.2	-	0	308																											TAGCAAGAAAcagcagcagcagc	0.419																																						ENST00000454681.2																			0																																																			0							g.chr13:33942665_33942667delCAG																													13.37:g.33942674_33942676delCAG														0	308	-									RNA	DEL	ENST00000454681.2	37																																																																																						0.419	RP11-141M1.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000044447.2			2	4						2	4	---	---	---	---
OGFOD1	55239	broad.mit.edu	37	16	56501895	56501895	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:56501895delG	ENST00000566157.1	+	8	988	c.865delG	c.(865-867)gaafs	p.E289fs	OGFOD1_ENST00000568397.1_Frame_Shift_Del_p.E246fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	289					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAGTTTGAAGAAAGTTCTGA	0.383																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(865-867)aafs		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						75.0	73.0	74.0					16																	56501895		2198	4300	6498	SO:0001589	frameshift_variant	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56501895delG	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.865delG	16.37:g.56501895delG	ENSP00000457258:p.Glu289fs					OGFOD1_ENST00000568397.1_Frame_Shift_Del_p.E246fs	p.E289fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			8	988	+			289					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Del	DEL	ENST00000566157.1	37	c.865delG	CCDS10761.2																																																																																				0.383	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		7	45						7	45	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72831862	72831863	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:72831862_72831863insA	ENST00000268489.5	-	9	5390_5391	c.4718_4719insT	c.(4717-4719)ttafs	p.L1573fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L659fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1573					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGCTCTCTTTAACTTATGCAG	0.47																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4717-4719)taafs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831862_72831863insA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4719dupT	16.37:g.72831864_72831864dupA	ENSP00000268489:p.Leu1573fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.*659fs	p.*1573fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5390_5391	-		Ovarian(137;0.13)	1573					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.4718_4719insT	CCDS10908.1																																																																																				0.470	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	77						8	77	---	---	---	---
AFG3L1P	172	broad.mit.edu	37	16	90053797	90053797	+	RNA	DEL	G	G	-	rs149556835|rs377194311		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:90053797delG	ENST00000437774.1	+	0	731					NR_003226.1				AFG3-like AAA ATPase 1, pseudogene																		aggtggaggaggtggaggagg	0.647																																						ENST00000437774.1																			0																																																			0							g.chr16:90053797delG	AJ001495		16q24.3	2013-10-17	2013-10-17	2010-10-28	ENSG00000223959	ENSG00000223959		"""ATPases / AAA-type"""	314	pseudogene	pseudogene		603020	"""AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene"", ""AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene"""	AFG3, AFG3L1		9545647, 11549317	Standard	NR_003228		Approved		uc002fpz.1		OTTHUMG00000138987		16.37:g.90053797delG								NR_003226.1						0	731	+									RNA	DEL	ENST00000437774.1	37																																																																																						0.647	AFG3L1P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316791.1	NR_003226		3	5						3	5	---	---	---	---
MAP3K3	4215	broad.mit.edu	37	17	61744386	61744387	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:61744386_61744387insC	ENST00000361733.3	+	6	788_789	c.468_469insC	c.(469-471)cccfs	p.P157fs	MAP3K3_ENST00000579585.1_Frame_Shift_Ins_p.P188fs|MAP3K3_ENST00000361357.3_Frame_Shift_Ins_p.P188fs|MAP3K3_ENST00000584573.1_Frame_Shift_Ins_p.P188fs|MAP3K3_ENST00000577395.1_Frame_Shift_Ins_p.P157fs	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	157					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTATCTACCAGCCCCCCGAGCC	0.49																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(559-564)caccccfs		mitogen-activated protein kinase kinase kinase 3																																				SO:0001589	frameshift_variant	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61744386_61744387insC	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.474dupC	17.37:g.61744392_61744392dupC	ENSP00000354485:p.Pro157fs					MAP3K3_ENST00000361733.3_Frame_Shift_Ins_p.HP156fs|MAP3K3_ENST00000584573.1_Frame_Shift_Ins_p.HP187fs|MAP3K3_ENST00000577395.1_Frame_Shift_Ins_p.HP156fs|MAP3K3_ENST00000579585.1_Frame_Shift_Ins_p.HP187fs	p.HP187fs	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			7	879_880	+			156					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Frame_Shift_Ins	INS	ENST00000361733.3	37	c.561_562insC	CCDS32702.1																																																																																				0.490	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		45	70						45	70	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62198499	62198499	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr20:62198499delC	ENST00000467148.1	-	6	2281	c.2212delG	c.(2212-2214)gtcfs	p.V738fs	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_Frame_Shift_Del_p.V169fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	738	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCGTGGAAGACCAGGCGGCTC	0.667																																						ENST00000467148.1																			0											c.(2212-2214)tcfs		helicase with zinc finger 2, transcriptional coactivator							51.0	52.0	52.0					20																	62198499		2202	4298	6500	SO:0001589	frameshift_variant	85441							g.chr20:62198499delC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2212delG	20.37:g.62198499delC	ENSP00000417401:p.Val738fs					HELZ2_ENST00000427522.2_Frame_Shift_Del_p.V169fs	p.V738fs	NM_001037335.2	NP_001032412.2					6	2281	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.2212delG	CCDS33508.1																																																																																				0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		38	68						38	68	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843613	18843613	+	Intron	DEL	G	G	-	rs201642685	byFrequency	TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:18843613delG	ENST00000412938.1	+	4	2337																											AGGAGAGGCAGGGGCGGGGGT	0.622													gggg|GGGG|GGG|deletion	680	0.135783	0.2247	0.0994	5008	,	,		26818	0.003		0.1948	False		,,,				2504	0.1176					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18843613delG																												ENST00000412938.1:c.2337+182G>-	22.37:g.18843613delG														0	2337	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			2	4						2	4	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	3						4	3	---	---	---	---
