#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
CLTCL1	8218	broad.mit.edu	37	22	19196494	19196494	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19196494G>C	ENST00000263200.10	-	21	3452	c.3380C>G	c.(3379-3381)tCc>tGc	p.S1127C	CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1127C|CLTCL1_ENST00000353891.5_Missense_Mutation_p.S1127C|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1127	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTGATATAGGAGTTGATGGC	0.547			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3379-3381)tCc>tGc		clathrin, heavy chain-like 1							74.0	76.0	75.0					22																	19196494		2024	4191	6215	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19196494G>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3380C>G	22.37:g.19196494G>C	ENSP00000445677:p.Ser1127Cys					CLTCL1_ENST00000353891.5_Missense_Mutation_p.S1127C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1127C	p.S1127C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			21	3452	-	Colorectal(54;0.0993)		1127			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3380C>G	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678218	0.47886	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.26957	1.7;1.7;1.7	3.85	3.85	0.44370	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.58278	0.2111	M	0.92026	3.265	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.76575	0.988;0.943	T	0.68205	-0.5470	10	0.42905	T	0.14	-10.9925	15.9739	0.80044	0.0:0.0:1.0:0.0	.	1127;1127	P53675-2;P53675	.;CLH2_HUMAN	C	1127	ENSP00000439662:S1127C;ENSP00000445677:S1127C;ENSP00000441158:S1127C	ENSP00000445677:S1127C	S	-	2	0	CLTCL1	17576494	1.000000	0.71417	0.763000	0.31416	0.146000	0.21551	8.617000	0.90927	1.953000	0.56701	0.655000	0.94253	TCC		0.547	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		16	7	0	0	0	1	0	16	7				
DST	667	broad.mit.edu	37	6	56391251	56391251	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:56391251C>T	ENST00000361203.3	-	64	17084	c.17077G>A	c.(17077-17079)Gta>Ata	p.V5693I	DST_ENST00000370754.5_Missense_Mutation_p.V5982I|DST_ENST00000446842.2_Missense_Mutation_p.V5478I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.V5804I|DST_ENST00000244364.6_Missense_Mutation_p.V3390I|DST_ENST00000421834.2_Missense_Mutation_p.V3716I|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.V3607I			Q03001	DYST_HUMAN	dystonin	5688					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCAGCTACCATTTTCTCA	0.498																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(17944-17946)Gta>Ata		dystonin							270.0	253.0	258.0					6																	56391251		2027	4199	6226	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56391251C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17077G>A	6.37:g.56391251C>T	ENSP00000354508:p.Val5693Ile					DST_ENST00000370769.4_Missense_Mutation_p.V5804I|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.V3607I|DST_ENST00000361203.3_Missense_Mutation_p.V5693I|DST_ENST00000421834.2_Missense_Mutation_p.V3716I|DST_ENST00000244364.6_Missense_Mutation_p.V3390I|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.V5478I	p.V5982I			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		69	17943	-	Lung NSC(77;0.103)		5802					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.17944G>A		.	.	.	.	.	.	.	.	.	.	C	14.65	2.598242	0.46318	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35421	1.35;1.31;1.31;1.35;1.35;1.35;1.35	5.73	4.85	0.62838	.	0.318910	0.22716	N	0.056506	T	0.10895	0.0266	N	0.17764	0.52	0.21782	N	0.999546	B;B;B;B;B	0.25719	0.018;0.034;0.132;0.003;0.035	B;B;B;B;B	0.24006	0.015;0.05;0.05;0.004;0.029	T	0.10042	-1.0647	9	0.25751	T	0.34	.	12.1867	0.54243	0.0:0.8497:0.0:0.1503	.	3716;5804;5982;5802;3390	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	3390;5982;5804;3716;5478;3607;5693	ENSP00000244364:V3390I;ENSP00000359790:V5982I;ENSP00000359805:V5804I;ENSP00000400883:V3716I;ENSP00000393645:V5478I;ENSP00000359824:V3607I;ENSP00000354508:V5693I	ENSP00000244364:V3390I	V	-	1	0	DST	56499210	1.000000	0.71417	0.918000	0.36340	0.992000	0.81027	2.476000	0.45171	1.521000	0.48983	0.655000	0.94253	GTA		0.498	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		29	63	0	0	0	1	0	29	63				
CRTC3	64784	broad.mit.edu	37	15	91172709	91172709	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91172709G>A	ENST00000268184.6	+	11	1215	c.1211G>A	c.(1210-1212)gGt>gAt	p.G404D	CRTC3_ENST00000420329.2_Missense_Mutation_p.G404D|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	404					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCACATCAAGGTTTCAGCAGA	0.572			T	MAML2	salivary gland mucoepidermoid																																	ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1210-1212)gGt>gAt		CREB regulated transcription coactivator 3							97.0	98.0	97.0					15																	91172709		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172709G>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1211G>A	15.37:g.91172709G>A	ENSP00000268184:p.Gly404Asp					CRTC3_ENST00000268184.6_Missense_Mutation_p.G404D|RP11-387D10.2_ENST00000559531.1_RNA	p.G404D	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		11	1358	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		404					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1211G>A	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580698	0.28180	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.11712	2.75;2.77	5.18	4.2	0.49525	.	0.296123	0.36893	N	0.002351	T	0.13286	0.0322	L	0.50333	1.59	0.37167	D	0.902854	P;D	0.53312	0.931;0.959	B;P	0.48030	0.36;0.564	T	0.09487	-1.0672	10	0.12103	T	0.63	-11.0982	12.7258	0.57170	0.0:0.0:0.826:0.174	.	404;404	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	D	368;404;404	ENSP00000268184:G404D;ENSP00000416573:G404D	ENSP00000268184:G404D	G	+	2	0	CRTC3	88973713	0.994000	0.37717	0.878000	0.34440	0.022000	0.10575	1.740000	0.38228	2.687000	0.91594	0.655000	0.94253	GGT		0.572	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		46	95	0	0	0	1	0	46	95				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	356	1	0	1.024e-07	1	1.05412e-07	5	356				
INHBA	3624	broad.mit.edu	37	7	41729399	41729399	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:41729399C>T	ENST00000242208.4	-	3	1376	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.R377H|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	377				RMR -> AC (in Ref. 7; CAA51163). {ECO:0000305}.	activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.R377H(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCCCGCATGCGGTAGTGGTT	0.547										TSP Lung(11;0.080)																												ENST00000242208.4																			1	Substitution - Missense(1)	p.R377H(1)	large_intestine(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1129-1131)cGc>cAc		inhibin, beta A							130.0	115.0	120.0					7																	41729399		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729399C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.1130G>A	7.37:g.41729399C>T	ENSP00000242208:p.Arg377His	TSP Lung(11;0.080)				INHBA_ENST00000442711.1_Missense_Mutation_p.R377H|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	p.R377H	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	1376	-			377	RMR -> AC (in Ref. 7; CAA51163).				Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.1130G>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.430177	0.83776	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62498	0.02;0.02	5.86	5.86	0.93980	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79505	-0.1776	10	0.51188	T	0.08	-23.9854	20.1781	0.98191	0.0:1.0:0.0:0.0	.	377	P08476	INHBA_HUMAN	H	377	ENSP00000242208:R377H;ENSP00000397197:R377H	ENSP00000242208:R377H	R	-	2	0	INHBA	41695924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.751000	0.85126	2.778000	0.95560	0.591000	0.81541	CGC		0.547	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			60	80	0	0	0	1	0	60	80				
CLASP2	23122	broad.mit.edu	37	3	33552148	33552148	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:33552148T>A	ENST00000468888.2	-	37	4289	c.4243A>T	c.(4243-4245)Aat>Tat	p.N1415Y	CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.N1174Y|CLASP2_ENST00000399362.4_Missense_Mutation_p.N1414Y|CLASP2_ENST00000307312.7_Missense_Mutation_p.N896Y|CLASP2_ENST00000480013.1_Missense_Mutation_p.N1194Y|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1406Y			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1195					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCAGCCAGATTAATTGGGTAG	0.438																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(4240-4242)Aat>Tat		cytoplasmic linker associated protein 2							152.0	133.0	139.0					3																	33552148		1906	4134	6040	SO:0001583	missense	23122							g.chr3:33552148T>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4243A>T	3.37:g.33552148T>A	ENSP00000419974:p.Asn1415Tyr					CLASP2_ENST00000359576.5_Missense_Mutation_p.N1406Y|CLASP2_ENST00000307312.7_Missense_Mutation_p.N896Y|CLASP2_ENST00000461133.3_Missense_Mutation_p.N1174Y|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.N1194Y|CLASP2_ENST00000468888.2_Missense_Mutation_p.N1415Y	p.N1414Y	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			37	4593	-			1416					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.4240A>T		.	.	.	.	.	.	.	.	.	.	T	34	5.310453	0.95629	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.981	T	0.80339	-0.1424	10	0.52906	T	0.07	-29.7018	16.2824	0.82697	0.0:0.0:0.0:1.0	.	1406;1414	F5H604;E7ERI8	.;.	Y	1415;1414;1406;896;1194;1174	ENSP00000419974:N1415Y;ENSP00000382297:N1414Y;ENSP00000352581:N1406Y;ENSP00000304743:N896Y;ENSP00000417518:N1194Y;ENSP00000419305:N1174Y	ENSP00000304743:N896Y	N	-	1	0	CLASP2	33527152	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.717000	0.84732	2.250000	0.74265	0.533000	0.62120	AAT		0.438	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		7	14	0	0	0	1	0	7	14				
MCF2L	23263	broad.mit.edu	37	13	113750979	113750979	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr13:113750979G>A	ENST00000375608.3	+	30	3452	c.3394G>A	c.(3394-3396)Gtg>Atg	p.V1132M	MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000442652.2_Missense_Mutation_p.V1132M|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000434480.2_Missense_Mutation_p.V1108M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1132					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TAAGGCCCACGTGCCCCGAGC	0.741																																						ENST00000375608.3																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(3394-3396)Gtg>Atg		MCF.2 cell line derived transforming sequence-like							6.0	9.0	8.0					13																	113750979		1512	3461	4973	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113750979G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3394G>A	13.37:g.113750979G>A	ENSP00000364758:p.Val1132Met					MCF2L_ENST00000442652.2_Missense_Mutation_p.V1132M|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000434480.2_Missense_Mutation_p.V1108M|MCF2L_ENST00000375604.2_Intron	p.V1132M			O15068	MCF2L_HUMAN			30	3452	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	1132					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.3394G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.142328|2.142328	0.37825|0.37825	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000434480	.|T;T;T	.|0.37058	.|1.24;1.24;1.22	4.64|4.64	-3.42|-3.42	0.04825|0.04825	.|.	.|2.273030	.|0.02242	.|N	.|0.065912	T|T	0.22475|0.22475	0.0542|0.0542	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.06356|0.06356	-1.0831|-1.0831	4|7	.|0.39692	.|T	.|0.17	.|.	0.3456|0.3456	0.00341|0.00341	0.2873:0.2153:0.2791:0.2183|0.2873:0.2153:0.2791:0.2183	.|.	.|.	.|.	.|.	H|M	787|1132;1132;1108	.|ENSP00000364758:V1132M;ENSP00000401422:V1132M;ENSP00000407722:V1108M	.|ENSP00000364758:V1132M	R|V	+|+	2|1	0|0	MCF2L|MCF2L	112798980|112798980	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.086000|0.086000	0.17979|0.17979	0.507000|0.507000	0.22675|0.22675	-0.787000|-0.787000	0.04510|0.04510	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.741	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			5	15	0	0	0	1	0	5	15				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	43	0	0	0	1	0	4	43				
SAMD4B	55095	broad.mit.edu	37	19	39869208	39869208	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:39869208C>T	ENST00000314471.6	+	11	2544	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	SAMD4B_ENST00000598913.1_Silent_p.I503I|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCAGCTCATCGAAAAGTGCC	0.572																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1507-1509)atC>atT		sterile alpha motif domain containing 4B							147.0	108.0	121.0					19																	39869208		2203	4300	6503	SO:0001819	synonymous_variant	55095						protein binding	g.chr19:39869208C>T		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1509C>T	19.37:g.39869208C>T						SAMD4B_ENST00000598913.1_Silent_p.I503I|SAMD4B_ENST00000596368.1_Intron	p.I503I	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		11	2544	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		503					A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	c.1509C>T	CCDS33020.1																																																																																				0.572	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		12	67	0	0	0	1	0	12	67				
KLHL25	64410	broad.mit.edu	37	15	86312852	86312852	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:86312852G>C	ENST00000337975.5	-	2	464	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	KLHL25_ENST00000536947.1_Missense_Mutation_p.L64V|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAGGCGGCCAGCACGGCACGG	0.627																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(190-192)Ctg>Gtg		kelch-like family member 25							40.0	42.0	42.0					15																	86312852		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312852G>C		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.190C>G	15.37:g.86312852G>C	ENSP00000336800:p.Leu64Val					KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.L64V	p.L64V	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	464	-			64			BTB.		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.190C>G	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921388	0.52653	.	.	ENSG00000183655	ENST00000337975;ENST00000536947	D;D	0.89485	-2.52;-2.52	4.85	1.91	0.25777	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000004	D	0.94778	0.8314	M	0.93763	3.455	0.44899	D	0.997911	D	0.71674	0.998	D	0.79108	0.992	D	0.94332	0.7563	10	0.87932	D	0	.	9.5338	0.39209	0.2297:0.0:0.7703:0.0	.	64	Q9H0H3	ENC2_HUMAN	V	64	ENSP00000336800:L64V;ENSP00000444739:L64V	ENSP00000336800:L64V	L	-	1	2	KLHL25	84113856	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.616000	0.61197	1.050000	0.40346	0.462000	0.41574	CTG		0.627	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		14	33	0	0	0	1	0	14	33				
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67.0	59.0	62.0					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	164	0	0	0	1	0	5	164				
CRTC3	64784	broad.mit.edu	37	15	91073323	91073323	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91073323C>T	ENST00000268184.6	+	1	24	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CRTC3_ENST00000420329.2_Missense_Mutation_p.S7L|CRTC3_ENST00000560098.1_Missense_Mutation_p.S7L			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	7	Required for interaction with HTLV-1 TAX.				energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TCGCCGGGCTCGGGCAGCGCC	0.721			T	MAML2	salivary gland mucoepidermoid																																	ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(19-21)tCg>tTg		CREB regulated transcription coactivator 3							7.0	7.0	7.0					15																	91073323		2103	4158	6261	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91073323C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.20C>T	15.37:g.91073323C>T	ENSP00000268184:p.Ser7Leu					CRTC3_ENST00000560098.1_Missense_Mutation_p.S7L|CRTC3_ENST00000268184.6_Missense_Mutation_p.S7L	p.S7L	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		1	167	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		7			Required for interaction with HTLV-1 TAX.		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.20C>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891203	0.72524	.	.	ENSG00000140577	ENST00000268184;ENST00000420329	T;T	0.14391	2.51;2.51	2.52	2.52	0.30459	.	0.355369	0.21535	U	0.072998	T	0.14270	0.0345	L	0.34521	1.04	0.43782	D	0.996316	P;P	0.50710	0.898;0.938	B;P	0.47981	0.359;0.563	T	0.04103	-1.0977	10	0.72032	D	0.01	-3.2934	10.7216	0.46044	0.0:1.0:0.0:0.0	.	7;7	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	L	7	ENSP00000268184:S7L;ENSP00000416573:S7L	ENSP00000268184:S7L	S	+	2	0	CRTC3	88874327	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	5.152000	0.64882	1.406000	0.46857	0.297000	0.19635	TCG		0.721	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		5	3	0	0	0	1	0	5	3				
CARKD	55739	broad.mit.edu	37	13	111287884	111287884	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr13:111287884G>A	ENST00000309957.2	+	8	735	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	CARKD_ENST00000458711.2_Missense_Mutation_p.V110M|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.V131M	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CCTGGGCAACGTGACGGTGGT	0.592																																						ENST00000309957.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						c.(721-723)Gtg>Atg		carbohydrate kinase domain containing							163.0	147.0	152.0					13																	111287884		2203	4300	6503	SO:0001583	missense	55739							g.chr13:111287884G>A	AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.721G>A	13.37:g.111287884G>A	ENSP00000311984:p.Val241Met					CARKD_ENST00000458711.2_Missense_Mutation_p.V110M|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.V131M	p.V241M	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN			8	735	+			241			YjeF C-terminal.			Missense_Mutation	SNP	ENST00000309957.2	37	c.721G>A	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714329	0.30413	.	.	ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607;ENST00000309957	T;T;T	0.24151	1.87;1.87;1.87	4.86	2.08	0.27032	Uncharacterised domain, carbohydrate kinase-related (3);	0.627359	0.15786	N	0.244665	T	0.46092	0.1375	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.999;0.998;1.0;0.992	P;P;D;D;P	0.68039	0.896;0.898;0.917;0.955;0.781	T	0.40079	-0.9582	10	0.87932	D	0	-15.2042	1.1683	0.01820	0.21:0.2179:0.3678:0.2042	.	110;131;223;241;241	B4DQR1;Q8IW45-4;B4DKX7;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	M	110;131;223;241	ENSP00000412789:V110M;ENSP00000413191:V131M;ENSP00000311984:V241M	ENSP00000311984:V241M	V	+	1	0	CARKD	110085885	0.071000	0.21146	0.008000	0.14137	0.192000	0.23643	0.221000	0.17680	0.075000	0.16796	0.462000	0.41574	GTG		0.592	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		28	212	0	0	0	1	0	28	212				
TBL2	26608	broad.mit.edu	37	7	72988397	72988397	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:72988397G>T	ENST00000305632.5	-	3	558	c.317C>A	c.(316-318)gCt>gAt	p.A106D	TBL2_ENST00000432538.1_Missense_Mutation_p.A70D|TBL2_ENST00000452475.1_Missense_Mutation_p.A106D|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	106							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCACAGGTAGCCAGGTATTT	0.577																																						ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(316-318)gCt>gAt		transducin (beta)-like 2							166.0	129.0	142.0					7																	72988397		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72988397G>T	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.317C>A	7.37:g.72988397G>T	ENSP00000307260:p.Ala106Asp					TBL2_ENST00000452475.1_Missense_Mutation_p.A106D|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.A70D	p.A106D	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			3	558	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	106					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.317C>A	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146183	0.94603	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.70399	-0.48;-0.48;-0.48	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89536	0.6743	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92890	0.6330	10	0.87932	D	0	-24.3907	16.4333	0.83861	0.0:0.0:1.0:0.0	.	70;106	E9PF19;Q9Y4P3	.;TBL2_HUMAN	D	106;106;70;106	ENSP00000307260:A106D;ENSP00000413979:A70D;ENSP00000407371:A106D	ENSP00000307260:A106D	A	-	2	0	TBL2	72626333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.581000	0.74045	2.491000	0.84063	0.561000	0.74099	GCT		0.577	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		13	50	1	0	2.27111e-07	1	2.30403e-07	13	50				
DHX30	22907	broad.mit.edu	37	3	47889849	47889849	+	Silent	SNP	A	A	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:47889849A>G	ENST00000445061.1	+	15	2873	c.2466A>G	c.(2464-2466)caA>caG	p.Q822Q	DHX30_ENST00000446256.2_Silent_p.Q783Q|DHX30_ENST00000457607.1_Silent_p.Q850Q|DHX30_ENST00000348968.4_Silent_p.Q794Q|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	822	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGTGCTGCAAGCGAAAATCC	0.632																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2347-2349)caA>caG		DEAH (Asp-Glu-Ala-His) box helicase 30							50.0	59.0	56.0					3																	47889849		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889849A>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2466A>G	3.37:g.47889849A>G						DHX30_ENST00000445061.1_Silent_p.Q822Q|DHX30_ENST00000348968.4_Silent_p.Q794Q|DHX30_ENST00000457607.1_Silent_p.Q850Q	p.Q783Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2921	+			822			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.2349A>G	CCDS2759.1																																																																																				0.632	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		24	43	0	0	0	1	0	24	43				
HTT	3064	broad.mit.edu	37	4	3225847	3225847	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr4:3225847C>T	ENST00000355072.5	+	56	7899	c.7754C>T	c.(7753-7755)cCg>cTg	p.P2585L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2585					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTCTGTCTCCGGCTACTACA	0.512																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7753-7755)cCg>cTg		huntingtin							134.0	148.0	144.0					4																	3225847		2140	4262	6402	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3225847C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7754C>T	4.37:g.3225847C>T	ENSP00000347184:p.Pro2585Leu						p.P2585L	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	56	7899	+		all_epithelial(65;0.18)	2585					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.7754C>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828580	0.50845	.	.	ENSG00000197386	ENST00000355072	T	0.04970	3.52	5.53	5.53	0.82687	.	0.192801	0.46758	D	0.000269	T	0.07413	0.0187	L	0.40543	1.245	0.58432	D	0.999998	D	0.54397	0.966	B	0.36989	0.238	T	0.19877	-1.0292	10	0.48119	T	0.1	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	2585	P42858	HD_HUMAN	L	2585	ENSP00000347184:P2585L	ENSP00000347184:P2585L	P	+	2	0	HTT	3195645	0.997000	0.39634	0.351000	0.25721	0.132000	0.20833	7.142000	0.77339	2.611000	0.88343	0.650000	0.86243	CCG		0.512	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		42	135	0	0	0	1	0	42	135				
CCDC181	57821	broad.mit.edu	37	1	169391086	169391086	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:169391086A>T	ENST00000367806.3	-	3	735	c.583T>A	c.(583-585)Ttt>Att	p.F195I	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.F195I|CCDC181_ENST00000367805.3_Missense_Mutation_p.F195I	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	195						nucleus (GO:0005634)											TCTTGTCCAAAATCATTGGAA	0.348																																						ENST00000545005.1																			0											c.(583-585)Ttt>Att		coiled-coil domain containing 181							83.0	86.0	85.0					1																	169391086		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391086A>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.583T>A	1.37:g.169391086A>T	ENSP00000356780:p.Phe195Ile					CCDC181_ENST00000367806.3_Missense_Mutation_p.F195I|CCDC181_ENST00000367805.3_Missense_Mutation_p.F195I|CCDC181_ENST00000491570.1_5'UTR	p.F195I							4	1090	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.583T>A		.	.	.	.	.	.	.	.	.	.	A	8.115	0.779625	0.16120	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.21361	2.02;2.02;2.02;2.01	5.42	-3.34	0.04943	.	1.182100	0.05948	N	0.638235	T	0.03739	0.0106	L	0.31294	0.92	0.22803	N	0.998714	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.41752	-0.9491	9	0.19147	T	0.46	-0.0014	5.36	0.16083	0.1882:0.0:0.2673:0.5444	.	195;195;195	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	I	195	ENSP00000356779:F195I;ENSP00000356780:F195I;ENSP00000442297:F195I;ENSP00000411000:F195I	ENSP00000356779:F195I	F	-	1	0	C1orf114	167657710	0.000000	0.05858	0.672000	0.29872	0.713000	0.41058	-0.158000	0.10070	-0.215000	0.10063	0.455000	0.32223	TTT		0.348	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		38	58	0	0	0	1	0	38	58				
UNC5D	137970	broad.mit.edu	37	8	35583958	35583958	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:35583958A>G	ENST00000404895.2	+	10	1920	c.1592A>G	c.(1591-1593)cAa>cGa	p.Q531R	UNC5D_ENST00000287272.2_Missense_Mutation_p.Q462R|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q107R|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q464R|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q536R|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q526R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	531					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTACATCCAAAATCTGTCA	0.468																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1384-1386)cAa>cGa		unc-5 homolog D (C. elegans)							125.0	126.0	126.0					8																	35583958		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583958A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1592A>G	8.37:g.35583958A>G	ENSP00000385143:p.Gln531Arg					UNC5D_ENST00000449677.1_Missense_Mutation_p.Q107R|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q526R|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q464R|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q536R|UNC5D_ENST00000404895.2_Missense_Mutation_p.Q531R	p.Q462R			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1405	+			531					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1385A>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196563	0.38806	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55052	0.58;1.0;1.02;0.58;0.54;2.44	5.8	4.62	0.57501	.	0.335739	0.35124	N	0.003438	T	0.42810	0.1219	L	0.60455	1.87	0.35649	D	0.811587	B;P;B;B	0.39250	0.003;0.665;0.002;0.003	B;B;B;B	0.23275	0.001;0.045;0.003;0.001	T	0.55522	-0.8128	10	0.42905	T	0.14	-8.771	13.0096	0.58724	0.8652:0.1348:0.0:0.0	.	107;536;526;531	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	R	531;464;462;536;526;107	ENSP00000385143:Q531R;ENSP00000392739:Q464R;ENSP00000287272:Q462R;ENSP00000412652:Q536R;ENSP00000394303:Q526R;ENSP00000397211:Q107R	ENSP00000287272:Q462R	Q	+	2	0	UNC5D	35703500	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	4.031000	0.57267	0.999000	0.39023	0.460000	0.39030	CAA		0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			26	40	0	0	0	1	0	26	40				
MT-ND1	4535	broad.mit.edu	37	M	4131	4131	+	Silent	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrM:4131A>C	ENST00000361390.2	+	1	825	c.825A>C	c.(823-825)acA>acC	p.T275T	MT-TA_ENST00000387392.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TM_ENST00000387377.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	275					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAATTCGAACAGCATACCCC	0.438																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(823-825)acA>acC		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001819	synonymous_variant	4535							g.chrM:4131A>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.825A>C	M.37:g.4131A>C							p.275_275insT							1	825	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.825A>C																																																																																					0.438	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		31	33	0	0	0	1	0	31	33				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	rs193920774		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							50.0	44.0	46.0					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G266V	p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	4	1	0	0.0135373	1	0.0135373	13	4				
ZNF808	388558	broad.mit.edu	37	19	53057634	53057634	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:53057634C>T	ENST00000359798.4	+	5	1645	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAATGAGTGTCGCAAGACCTT	0.433																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1465-1467)Cgc>Tgc		zinc finger protein 808							82.0	87.0	85.0					19																	53057634		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057634C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1465C>T	19.37:g.53057634C>T	ENSP00000352846:p.Arg489Cys						p.R489C	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1645	+			489					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1465C>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	6.223	0.409359	0.11812	.	.	ENSG00000198482	ENST00000359798	T	0.15139	2.45	1.35	-2.71	0.05986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11239	0.0274	L	0.37561	1.115	0.21445	N	0.999684	B	0.26975	0.165	B	0.23150	0.044	T	0.13710	-1.0499	9	0.87932	D	0	.	4.7929	0.13257	0.2385:0.1755:0.5859:0.0	.	489	Q8N4W9	ZN808_HUMAN	C	489	ENSP00000352846:R489C	ENSP00000352846:R489C	R	+	1	0	ZNF808	57749446	0.037000	0.19845	0.000000	0.03702	0.002000	0.02628	0.369000	0.20416	-2.196000	0.00751	-2.730000	0.00130	CGC		0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		37	128	0	0	0	1	0	37	128				
GRIK3	2899	broad.mit.edu	37	1	37291395	37291395	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:37291395G>C	ENST00000373091.3	-	11	1579	c.1563C>G	c.(1561-1563)atC>atG	p.I521M	GRIK3_ENST00000373093.4_Missense_Mutation_p.I521M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	521					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GAACATGGGTGATGGTCAGGG	0.542																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1561-1563)atC>atG		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						103.0	97.0	99.0					1																	37291395		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37291395G>C	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1563C>G	1.37:g.37291395G>C	ENSP00000362183:p.Ile521Met					GRIK3_ENST00000373093.4_Missense_Mutation_p.I521M	p.I521M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			11	1579	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	521					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1563C>G	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194851	0.58017	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.16743	2.32;2.32	5.25	5.25	0.73442	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.83118	2.625	0.47214	D	0.999359	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48422	-0.9037	10	0.87932	D	0	.	13.7809	0.63081	0.0:0.0:0.8466:0.1534	.	521;521	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	521	ENSP00000362183:I521M;ENSP00000362185:I521M	ENSP00000362183:I521M	I	-	3	3	GRIK3	37063982	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.884000	0.39668	2.443000	0.82685	0.462000	0.41574	ATC		0.542	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		8	131	0	0	0	1	0	8	131				
CRHR1	1394	broad.mit.edu	37	17	43907499	43907499	+	Silent	SNP	C	C	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:43907499C>A	ENST00000398285.3	+	7	561	c.561C>A	c.(559-561)ctC>ctA	p.L187L	CRHR1_ENST00000577353.1_Silent_p.L158L|CRHR1_ENST00000339069.5_Silent_p.L57L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Silent_p.L118L|CRHR1_ENST00000314537.5_Silent_p.L158L	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	187					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTGGAACCTCATCTCCGCCT	0.622																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(472-474)ctC>ctA		corticotropin releasing hormone receptor 1							130.0	135.0	133.0					17																	43907499		2188	4278	6466	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907499C>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.561C>A	17.37:g.43907499C>A						CRHR1_ENST00000352855.5_Silent_p.L118L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000398285.3_Silent_p.L187L|CRHR1_ENST00000577353.1_Silent_p.L158L|CRHR1_ENST00000339069.5_Silent_p.L57L	p.L158L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	6	699	+	Colorectal(2;0.0416)		187					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.474C>A	CCDS45712.1																																																																																				0.622	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			86	97	1	0	5.70515e-31	1	6.144e-31	86	97				
ZNF479	90827	broad.mit.edu	37	7	57188629	57188629	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:57188629C>G	ENST00000331162.4	-	5	763	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	165					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTACCAAAGACTTTGACATAT	0.308																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(493-495)Gtc>Ctc		zinc finger protein 479							31.0	30.0	30.0					7																	57188629		1812	4056	5868	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188629C>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.493G>C	7.37:g.57188629C>G	ENSP00000333776:p.Val165Leu						p.V165L	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	763	-			165						Missense_Mutation	SNP	ENST00000331162.4	37	c.493G>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	4.835	0.155163	0.09236	.	.	ENSG00000185177	ENST00000331162	T	0.41065	1.01	0.946	-0.838	0.10762	.	.	.	.	.	T	0.32704	0.0838	L	0.61036	1.89	0.09310	N	1	B	0.31077	0.307	B	0.23716	0.048	T	0.25398	-1.0133	9	0.72032	D	0.01	.	3.735	0.08507	0.0:0.6635:0.0:0.3365	.	165	Q96JC4	ZN479_HUMAN	L	165	ENSP00000333776:V165L	ENSP00000333776:V165L	V	-	1	0	ZNF479	57192571	0.006000	0.16342	0.004000	0.12327	0.004000	0.04260	0.918000	0.28678	-0.503000	0.06586	-0.498000	0.04607	GTC		0.308	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		9	19	0	0	0	1	0	9	19				
MYOM3	127294	broad.mit.edu	37	1	24417411	24417411	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:24417411G>A	ENST00000374434.3	-	12	1470	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	MYOM3_ENST00000330966.7_Silent_p.G437G|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.G436G	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	436	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCGACGAGGCCTTGGATTG	0.637																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1309-1311)ggC>ggT		myomesin 3							99.0	108.0	105.0					1																	24417411		2070	4192	6262	SO:0001819	synonymous_variant	127294							g.chr1:24417411G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1308C>T	1.37:g.24417411G>A						MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.G436G|MYOM3_ENST00000374434.3_Silent_p.G436G	p.G437G			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	12	1473	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	436			Fibronectin type-III 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.1311C>T	CCDS41281.1																																																																																				0.637	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		58	96	0	0	0	1	0	58	96				
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs59641550		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			6	686	0	0	0	1	0	6	686				
PWP2	5822	broad.mit.edu	37	21	45544547	45544547	+	Missense_Mutation	SNP	G	G	A	rs144635092	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr21:45544547G>A	ENST00000291576.7	+	15	2031	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	635					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TACCACGTCCGTGAGCAGATT	0.602																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1903-1905)cGt>cAt		PWP2 periodic tryptophan protein homolog (yeast)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	94.0	104.0		1904	-1.4	0.0	21	dbSNP_134	104	0,8600		0,0,4300	no	missense	PWP2	NM_005049.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	635/920	45544547	1,13005	2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45544547G>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1904G>A	21.37:g.45544547G>A	ENSP00000291576:p.Arg635His						p.R635H	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	15	2031	+			635					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1904G>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974426	0.34848	2.27E-4	0.0	ENSG00000241945	ENST00000291576	T	0.05025	3.51	4.63	-1.39	0.08997	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.441710	0.25241	N	0.032093	T	0.07369	0.0186	M	0.63843	1.955	0.28556	N	0.911355	D	0.54207	0.965	B	0.41036	0.346	T	0.15065	-1.0450	10	0.52906	T	0.07	-21.5413	10.3839	0.44127	0.4523:0.0:0.5477:0.0	.	635	Q15269	PWP2_HUMAN	H	635	ENSP00000291576:R635H	ENSP00000291576:R635H	R	+	2	0	PWP2	44368975	1.000000	0.71417	0.004000	0.12327	0.368000	0.29767	1.701000	0.37825	-0.461000	0.06993	-0.136000	0.14681	CGT		0.602	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		6	60	0	0	0	1	0	6	60				
DNMBP	23268	broad.mit.edu	37	10	101715317	101715317	+	Silent	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:101715317C>G	ENST00000324109.4	-	4	2005	c.1914G>C	c.(1912-1914)gtG>gtC	p.V638V	DNMBP_ENST00000342239.3_Silent_p.V638V|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	638	Pro-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGGGTCGCACCACCAAGGGTG	0.597																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(1912-1914)gtG>gtC		dynamin binding protein							41.0	41.0	41.0					10																	101715317		2202	4300	6502	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715317C>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1914G>C	10.37:g.101715317C>G						DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.V638V	p.V638V			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	2005	-		Colorectal(252;0.234)	638			Pro-rich.		Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.1914G>C	CCDS7485.1																																																																																				0.597	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		8	59	0	0	0	1	0	8	59				
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:67564228C>T	ENST00000528089.1	-	0	912							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GAGGAGCCCGCTGGTGCTCCC	0.627																																						ENST00000528089.1																			0																																																			0							g.chr11:67564228C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564228C>T														0	912	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.627	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			5	88	0	0	0	1	0	5	88				
ARID5A	10865	broad.mit.edu	37	2	97215506	97215506	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:97215506C>G	ENST00000357485.3	+	4	354	c.276C>G	c.(274-276)atC>atG	p.I92M	ARID5A_ENST00000454558.2_Missense_Mutation_p.I24M	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	92	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGTGGAAGATCTACAAAGCAG	0.602																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(70-72)atC>atG		AT rich interactive domain 5A (MRF1-like)							88.0	84.0	85.0					2																	97215506		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97215506C>G	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.276C>G	2.37:g.97215506C>G	ENSP00000350078:p.Ile92Met					ARID5A_ENST00000357485.3_Missense_Mutation_p.I92M	p.I24M			Q03989	ARI5A_HUMAN			4	1249	+			92					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.72C>G	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521976	0.27211	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T;T	0.63913	-0.07;-0.07	4.85	3.98	0.46160	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.64402	D	0.000003	T	0.49695	0.1572	N	0.03608	-0.345	0.42331	D	0.992293	P	0.35844	0.524	P	0.53954	0.738	T	0.47142	-0.9140	10	0.13470	T	0.59	-23.1467	8.8897	0.35425	0.0:0.8994:0.0:0.1006	.	92	Q03989	ARI5A_HUMAN	M	92;92;24	ENSP00000350078:I92M;ENSP00000400785:I24M	ENSP00000350078:I92M	I	+	3	3	ARID5A	96579233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.078000	0.30754	1.296000	0.44742	0.555000	0.69702	ATC		0.602	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		32	56	0	0	0	1	0	32	56				
SUV420H1	51111	broad.mit.edu	37	11	67926336	67926336	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:67926336C>G	ENST00000304363.4	-	11	1830	c.1477G>C	c.(1477-1479)Gat>Cat	p.D493H		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	493					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGCTCCTTATCTTTTTTAATG	0.478																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(1477-1479)Gat>Cat		suppressor of variegation 4-20 homolog 1 (Drosophila)							59.0	65.0	63.0					11																	67926336		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926336C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1477G>C	11.37:g.67926336C>G	ENSP00000305899:p.Asp493His						p.D493H	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	1830	-			493					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1477G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564715	0.45694	.	.	ENSG00000110066	ENST00000304363	T	0.52295	0.67	5.2	4.28	0.50868	.	0.342595	0.33127	N	0.005247	T	0.41396	0.1157	N	0.24115	0.695	0.80722	D	1	P	0.49696	0.927	P	0.45946	0.498	T	0.47129	-0.9141	10	0.72032	D	0.01	-10.7918	15.7743	0.78198	0.0:0.8634:0.1366:0.0	.	493	Q4FZB7	SV421_HUMAN	H	493	ENSP00000305899:D493H	ENSP00000305899:D493H	D	-	1	0	SUV420H1	67682912	1.000000	0.71417	0.428000	0.26697	0.008000	0.06430	7.317000	0.79018	1.393000	0.46605	0.591000	0.81541	GAT		0.478	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		45	44	0	0	0	1	0	45	44				
GRM4	2914	broad.mit.edu	37	6	34101204	34101204	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:34101204C>T	ENST00000538487.2	-	2	513	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.G24S	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	24					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATCCAGGGGCCGTAAAGGCTG	0.612																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(70-72)Ggc>Agc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)																																			SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34101204C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.70G>A	6.37:g.34101204C>T	ENSP00000440556:p.Gly24Ser					GRM4_ENST00000538487.1_Missense_Mutation_p.G24S|GRM4_ENST00000374177.3_Intron	p.G24S	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			1	239	-			24					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.70G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239922	0.22711	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.87334	-2.24;-2.24	4.19	2.16	0.27623	.	0.252126	0.21490	N	0.073697	T	0.50565	0.1623	N	0.08118	0	0.48632	D	0.999687	B;B	0.32350	0.366;0.366	B;B	0.18871	0.023;0.023	T	0.51639	-0.8680	10	0.20519	T	0.43	.	7.6132	0.28142	0.2912:0.6229:0.0:0.0859	.	24;24	B7ZLU9;Q14833	.;GRM4_HUMAN	S	24	ENSP00000363296:G24S;ENSP00000440556:G24S	ENSP00000363296:G24S	G	-	1	0	GRM4	34209182	0.000000	0.05858	0.820000	0.32676	0.919000	0.55068	0.253000	0.18296	1.070000	0.40811	0.467000	0.42956	GGC		0.612	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			27	22	0	0	0	1	0	27	22				
TRMT6	51605	broad.mit.edu	37	20	5919371	5919371	+	Splice_Site	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:5919371A>C	ENST00000203001.2	-	11	1434	c.1304T>G	c.(1303-1305)gTt>gGt	p.V435G	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Splice_Site_p.V265G	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	435					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATCTGGCAAAACCTAATCAAG	0.418																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.e11-1		tRNA methyltransferase 6 homolog (S. cerevisiae)							65.0	64.0	64.0					20																	5919371		2203	4300	6503	SO:0001630	splice_region_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5919371A>C	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1303-1T>G	20.37:g.5919371A>C						TRMT6_ENST00000453074.2_Splice_Site_p.V265_splice|TRMT6_ENST00000473131.1_5'UTR	p.V435_splice	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			11	1434	-			435					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Splice_Site	SNP	ENST00000203001.2	37	c.1302_splice	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574600	0.86542	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.48201	0.99;0.82	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.77186	-0.2680	10	0.87932	D	0	-19.6611	16.3818	0.83467	1.0:0.0:0.0:0.0	.	435	Q9UJA5	TRM6_HUMAN	G	435;265	ENSP00000203001:V435G;ENSP00000392070:V265G	ENSP00000203001:V435G	V	-	2	0	TRMT6	5867371	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.450000	0.90340	2.330000	0.79161	0.528000	0.53228	GTT		0.418	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2		Missense_Mutation	14	75	0	0	0	1	0	14	75				
KIAA1217	56243	broad.mit.edu	37	10	24762746	24762746	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:24762746G>A	ENST00000376454.3	+	6	1466	c.1436G>A	c.(1435-1437)aGt>aAt	p.S479N	KIAA1217_ENST00000376451.2_Missense_Mutation_p.S197N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S479N|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S400N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S479N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S399N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S197N	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	479					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACAGAGTCAGTGACCTGAGG	0.542																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(589-591)aGt>aAt		KIAA1217							99.0	84.0	89.0					10																	24762746		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762746G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1436G>A	10.37:g.24762746G>A	ENSP00000365637:p.Ser479Asn					KIAA1217_ENST00000430453.2_Missense_Mutation_p.S400N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S197N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S479N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S479N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S399N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S479N	p.S197N			Q5T5P2	SKT_HUMAN			2	850	+			479					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.590G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	6.423	0.446134	0.12164	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.65	2.5	0.30297	.	0.625389	0.18496	N	0.139483	T	0.33990	0.0882	L	0.33485	1.01	0.09310	N	1	B;B;B;B;P;P;P;B	0.44195	0.332;0.007;0.332;0.015;0.682;0.546;0.828;0.001	B;B;B;B;B;B;B;B	0.39531	0.104;0.005;0.104;0.012;0.281;0.222;0.302;0.001	T	0.15521	-1.0434	10	0.44086	T	0.13	.	9.9823	0.41821	0.0863:0.3302:0.5834:0.0	.	479;479;197;197;197;197;479;479	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	N	399;479;479;197;479;479;329;400;197;197;197;197;197	ENSP00000365645:S399N;ENSP00000365639:S479N;ENSP00000392625:S479N;ENSP00000365637:S479N;ENSP00000365635:S479N;ENSP00000404798:S329N;ENSP00000389680:S400N;ENSP00000302343:S197N;ENSP00000379722:S197N;ENSP00000365634:S197N;ENSP00000379723:S197N	ENSP00000302343:S197N	S	+	2	0	KIAA1217	24802752	0.003000	0.15002	0.007000	0.13788	0.107000	0.19398	1.788000	0.38714	1.384000	0.46424	0.655000	0.94253	AGT		0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		25	95	0	0	0	1	0	25	95				
DOCK1	1793	broad.mit.edu	37	10	128785806	128785806	+	Silent	SNP	G	G	A	rs201302163	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:128785806G>A	ENST00000280333.6	+	5	358	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	83					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGTCATCCCGGGTGACCTCC	0.507													G|||	9	0.00179712	0.0	0.0	5008	,	,		18586	0.0		0.001	False		,,,				2504	0.0082					ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(247-249)ccG>ccA		dedicator of cytokinesis 1		G		2,3986		0,2,1992	28.0	29.0	29.0		204	-10.1	0.0	10		29	1,8337		0,1,4168	no	coding-synonymous	DOCK1	NM_001380.3		0,3,6160	AA,AG,GG		0.012,0.0502,0.0243		68/1851	128785806	3,12323	1994	4169	6163	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128785806G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.249G>A	10.37:g.128785806G>A							p.P83P	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	5	358	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	83					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.249G>A																																																																																					0.507	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		7	10	0	0	0	1	0	7	10				
ADAMTS13	11093	broad.mit.edu	37	9	136305578	136305578	+	Missense_Mutation	SNP	G	G	A	rs34569244		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr9:136305578G>A	ENST00000371929.3	+	16	2344	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.E634K|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.E306K|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.E603K|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	634	Spacer.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCCCTCACCGAGGACCGGCT	0.647																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(1900-1902)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 13							64.0	50.0	55.0					9																	136305578		2202	4300	6502	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136305578G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1900G>A	9.37:g.136305578G>A	ENSP00000360997:p.Glu634Lys					ADAMTS13_ENST00000536611.1_Missense_Mutation_p.E306K|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.E634K|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.E603K|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	p.E634K	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	16	2344	+			634			Spacer.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1900G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	4.752	0.139862	0.09083	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.68479	-0.31;-0.33;-0.31;0.11	5.21	2.34	0.29019	.	.	.	.	.	T	0.50103	0.1596	L	0.28400	0.85	0.19775	N	0.99996	B;B;B;B	0.12630	0.003;0.006;0.006;0.003	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.34378	-0.9831	9	0.32370	T	0.25	.	6.8327	0.23919	0.2278:0.1263:0.6459:0.0	rs34569244	634;603;634;306	Q76LX8;Q76LX8-3;Q76LX8-2;Q9UGQ1	ATS13_HUMAN;.;.;.	K	634;634;603;306	ENSP00000360997:E634K;ENSP00000347927:E634K;ENSP00000348997:E603K;ENSP00000444504:E306K	ENSP00000347927:E634K	E	+	1	0	ADAMTS13	135295399	0.769000	0.28531	0.509000	0.27700	0.051000	0.14879	1.010000	0.29898	0.603000	0.29913	-0.327000	0.08410	GAG		0.647	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		19	24	0	0	0	1	0	19	24				
NT5C1B	93034	broad.mit.edu	37	2	18765801	18765801	+	Silent	SNP	C	C	T	rs372417853		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:18765801C>T	ENST00000359846.2	-	5	959	c.882G>A	c.(880-882)ccG>ccA	p.P294P	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Silent_p.P294P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P294P|NT5C1B_ENST00000304081.4_Silent_p.P234P|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	294					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCGAGCAGCTCGGGTTCTTCT	0.687																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(700-702)ccG>ccA		5'-nucleotidase, cytosolic IB		C	,,,,,,	1,4375		0,1,2187	11.0	13.0	12.0		882,831,933,888,708,882,702	-2.2	0.0	2		12	1,8579		0,1,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	,,,,,,	0,2,6476	TT,TC,CC		0.0117,0.0229,0.0154	,,,,,,	294/611,277/594,311/628,296/613,236/651,294/603,234/551	18765801	2,12954	2188	4290	6478	SO:0001819	synonymous_variant	93034							g.chr2:18765801C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.882G>A	2.37:g.18765801C>T						NT5C1B_ENST00000600945.1_Silent_p.P294P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P294P|NT5C1B_ENST00000359846.2_Silent_p.P294P	p.P234P	NM_033253.3	NP_150278.2					4	802	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.702G>A	CCDS33150.1																																																																																				0.687	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			13	14	0	0	0	1	0	13	14				
MT-CO1	4512	broad.mit.edu	37	M	6915	6915	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrM:6915G>A	ENST00000361624.2	+	1	1012	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	338					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GATCTGCTGCAGTGCTCTGAG	0.478																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1012-1014)Gtg>Atg		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6915G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1012G>A	M.37:g.6915G>A	ENSP00000354499:p.Val338Met						p.338_338insM							1	1012	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1012G>A																																																																																					0.478	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		98	3	0	0	0	1	0	98	3				
CYP21A1P	1590	broad.mit.edu	37	6	31975463	31975463	+	5'Flank	SNP	T	T	C	rs370433041	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975463T>C																													6.37:g.31975463T>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1386	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	14	0	0	0	1	0	5	14				
BMP15	9210	broad.mit.edu	37	X	50659329	50659329	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:50659329C>T	ENST00000252677.3	+	2	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	301					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(901-903)Cgc>Tgc		bone morphogenetic protein 15							127.0	109.0	115.0					X																	50659329		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659329C>T	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.901C>T	X.37:g.50659329C>T	ENSP00000252677:p.Arg301Cys						p.R301C	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	901	+	Ovarian(276;0.236)		301					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.901C>T	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	9.983	1.228787	0.22542	.	.	ENSG00000130385	ENST00000252677	D	0.89939	-2.59	5.58	2.65	0.31530	Transforming growth factor-beta, C-terminal (3);	0.892392	0.10051	N	0.722224	D	0.91260	0.7245	M	0.75777	2.31	0.19575	N	0.999968	D	0.64830	0.994	P	0.55055	0.767	T	0.80585	-0.1317	10	0.66056	D	0.02	.	6.7908	0.23699	0.3088:0.6043:0.0:0.087	.	301	O95972	BMP15_HUMAN	C	301	ENSP00000252677:R301C	ENSP00000252677:R301C	R	+	1	0	BMP15	50676069	0.000000	0.05858	0.039000	0.18376	0.003000	0.03518	0.110000	0.15437	0.517000	0.28361	-0.215000	0.12644	CGC		0.498	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		77	65	0	0	0	1	0	77	65				
ARVCF	421	broad.mit.edu	37	22	19961226	19961226	+	Missense_Mutation	SNP	G	G	A	rs556096878		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19961226G>A	ENST00000263207.3	-	13	2470	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	ARVCF_ENST00000344269.3_Missense_Mutation_p.R664C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R721C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R658C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R664C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	727					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCGACGGCGCGCACCACCTTG	0.667																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2179-2181)Cgc>Tgc		armadillo repeat gene deleted in velocardiofacial syndrome							91.0	76.0	81.0					22																	19961226		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19961226G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2179C>T	22.37:g.19961226G>A	ENSP00000263207:p.Arg727Cys					ARVCF_ENST00000401994.1_Missense_Mutation_p.R664C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R664C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R658C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R721C	p.R727C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			13	2470	-	Colorectal(54;0.0993)		727					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2179C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049225	0.55110	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.66	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.057742	0.64402	D	0.000003	T	0.52041	0.1710	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.978;0.999	T	0.49031	-0.8981	9	.	.	.	-17.7467	6.1279	0.20189	0.091:0.0:0.6276:0.2814	.	727;243	O00192;E7EV58	ARVC_HUMAN;.	C	727;664;664;658;721	ENSP00000263207:R727C;ENSP00000342042:R664C;ENSP00000384341:R664C;ENSP00000384732:R658C;ENSP00000385444:R721C	.	R	-	1	0	ARVCF	18341226	1.000000	0.71417	0.853000	0.33588	0.676000	0.39594	4.129000	0.57957	1.317000	0.45149	0.491000	0.48974	CGC		0.667	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		31	134	0	0	0	1	0	31	134				
EGFLAM	133584	broad.mit.edu	37	5	38451444	38451444	+	Silent	SNP	C	C	T	rs368848352		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr5:38451444C>T	ENST00000354891.3	+	20	2941	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	EGFLAM_ENST00000397202.2_Silent_p.F223F|EGFLAM_ENST00000336740.6_Silent_p.F623F|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000322350.5_Silent_p.F857F	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	865	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAAATGTGTTCATGAGGTTTA	0.468																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2569-2571)ttC>ttT		EGF-like, fibronectin type III and laminin G domains		C	,,,	0,4406		0,0,2203	220.0	201.0	207.0		2595,2571,1869,	5.8	1.0	5		207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,utr-5	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2,NM_182801.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	865/1018,857/1010,623/776,	38451444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451444C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2595C>T	5.37:g.38451444C>T						EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000354891.3_Silent_p.F865F|EGFLAM_ENST00000397202.2_Silent_p.F223F|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.F623F	p.F857F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			19	2917	+	all_lung(31;0.000385)		865			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2571C>T	CCDS56363.1																																																																																				0.468	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		46	111	0	0	0	1	0	46	111				
HERC2P2	400322	broad.mit.edu	37	15	23300188	23300188	+	RNA	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:23300188T>C	ENST00000560464.1	-	0	4120									hect domain and RLD 2 pseudogene 2																		AAGAGGGTCCTGGGAGGTTTG	0.552																																						ENST00000560464.1																			0																																																			0							g.chr15:23300188T>C	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23300188T>C														0	4120	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.552	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	11	0	0	0	1	0	3	11				
SMC6	79677	broad.mit.edu	37	2	17912350	17912350	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:17912350T>C	ENST00000448223.2	-	7	807	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	SMC6_ENST00000402989.1_Missense_Mutation_p.I180V|SMC6_ENST00000381272.4_Missense_Mutation_p.I206V|SMC6_ENST00000351948.4_Missense_Mutation_p.I180V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	180					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTACCTGGATGTTAAAATGA	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(538-540)Atc>Gtc		structural maintenance of chromosomes 6							89.0	88.0	88.0					2																	17912350		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17912350T>C	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.538A>G	2.37:g.17912350T>C	ENSP00000404092:p.Ile180Val					SMC6_ENST00000402989.1_Missense_Mutation_p.I180V|SMC6_ENST00000351948.4_Missense_Mutation_p.I180V|SMC6_ENST00000381272.4_Missense_Mutation_p.I206V	p.I180V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			7	807	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		180					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.538A>G	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299384	0.81136	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.73789	-0.78;-0.78;3.21;-0.78;3.21	6.07	4.89	0.63831	RecF/RecN/SMC (1);	0.040946	0.85682	D	0.000000	D	0.85026	0.5603	M	0.79011	2.435	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.75484	0.976;0.95;0.986	D	0.85567	0.1231	10	0.56958	D	0.05	.	12.2544	0.54615	0.1276:0.0:0.0:0.8724	.	206;206;180	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	V	180;180;206;180;206	ENSP00000404092:I180V;ENSP00000323439:I180V;ENSP00000370672:I206V;ENSP00000384539:I180V;ENSP00000408644:I206V	ENSP00000323439:I180V	I	-	1	0	SMC6	17775831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.977000	0.76141	1.079000	0.41038	0.477000	0.44152	ATC		0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		3	39	0	0	0	1	0	3	39				
CCDC141	285025	broad.mit.edu	37	2	179737016	179737016	+	Missense_Mutation	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:179737016A>C	ENST00000420890.2	-	13	2040	c.1923T>G	c.(1921-1923)gaT>gaG	p.D641E	CCDC141_ENST00000295723.5_Missense_Mutation_p.D66E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	641										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTTTTCACATCTAATATCT	0.368																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(1921-1923)gaT>gaG		coiled-coil domain containing 141							145.0	128.0	134.0					2																	179737016		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179737016A>C	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.1923T>G	2.37:g.179737016A>C	ENSP00000395995:p.Asp641Glu					CCDC141_ENST00000295723.5_Missense_Mutation_p.D66E	p.D641E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	2040	-			66					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1923T>G		.	.	.	.	.	.	.	.	.	.	A	10.45	1.353466	0.24512	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.52057	0.68;1.32;1.33;1.37	5.56	3.26	0.37387	.	0.462748	0.19721	N	0.107596	T	0.23133	0.0559	N	0.08118	0	0.20403	N	0.999906	B	0.21071	0.051	B	0.16722	0.016	T	0.10405	-1.0631	10	0.32370	T	0.25	-6.383	5.1034	0.14772	0.6579:0.2408:0.1012:0.0	.	66	Q6ZP82	CC141_HUMAN	E	641;85;66;641;576	ENSP00000395995:D641E;ENSP00000344627:D85E;ENSP00000295723:D66E;ENSP00000390190:D641E	ENSP00000295723:D66E	D	-	3	2	CCDC141	179445261	0.016000	0.18221	0.345000	0.25642	0.108000	0.19459	0.352000	0.20113	0.928000	0.37168	0.416000	0.27883	GAT		0.368	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		14	31	0	0	0	1	0	14	31				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			266	32	0	0	0	1	0	266	32				
SUPT6H	6830	broad.mit.edu	37	17	27009799	27009799	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:27009799G>T	ENST00000314616.6	+	14	1935	c.1652G>T	c.(1651-1653)cGg>cTg	p.R551L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R551L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	551	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGAACCTGCGGGATAGCTAC	0.557																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1651-1653)cGg>cTg		suppressor of Ty 6 homolog (S. cerevisiae)							74.0	72.0	72.0					17																	27009799		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27009799G>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1652G>T	17.37:g.27009799G>T	ENSP00000319104:p.Arg551Leu					SUPT6H_ENST00000347486.4_Missense_Mutation_p.R551L	p.R551L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			14	1935	+	Lung NSC(42;0.00431)		551					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.1652G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517548	0.85495	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.39229	1.09;1.09	5.95	5.95	0.96441	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.60455	1.87	0.80722	D	1	P	0.50528	0.936	B	0.42062	0.374	T	0.25117	-1.0141	10	0.20046	T	0.44	-19.2009	20.3854	0.98941	0.0:0.0:1.0:0.0	.	551	Q7KZ85	SPT6H_HUMAN	L	551	ENSP00000319104:R551L;ENSP00000338143:R551L	ENSP00000319104:R551L	R	+	2	0	SUPT6H	24033926	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.359000	0.97115	2.825000	0.97269	0.655000	0.94253	CGG		0.557	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		24	84	1	0	4.26978e-12	1	4.46096e-12	24	84				
MET	4233	broad.mit.edu	37	7	116340188	116340188	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:116340188G>T	ENST00000318493.6	+	2	1237	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N	MET_ENST00000397752.3_Missense_Mutation_p.K350N|MET_ENST00000436117.2_Missense_Mutation_p.K350N			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CACAAAGCAAGCCAGATTCTG	0.473			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1048-1050)aaG>aaT		met proto-oncogene							70.0	67.0	68.0					7																	116340188		1959	4151	6110	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340188G>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1050G>T	7.37:g.116340188G>T	ENSP00000317272:p.Lys350Asn					MET_ENST00000318493.6_Missense_Mutation_p.K350N|MET_ENST00000436117.2_Missense_Mutation_p.K350N	p.K350N	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1250	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	350			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1050G>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888594	0.33348	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11277	2.79;2.79;2.79	6.04	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.047349	0.85682	D	0.000000	T	0.24736	0.0600	M	0.70275	2.135	0.80722	D	1	D;B;B;B;B;B;B;B;B;B;B;B;B	0.63880	0.993;0.154;0.05;0.062;0.154;0.154;0.154;0.154;0.178;0.095;0.25;0.02;0.02	D;B;B;B;B;B;B;B;B;B;B;B;B	0.65323	0.934;0.199;0.125;0.25;0.29;0.199;0.29;0.133;0.229;0.082;0.133;0.032;0.032	T	0.00775	-1.1571	10	0.46703	T	0.11	.	7.5407	0.27737	0.4122:0.0:0.5878:0.0	.	350;350;350;350;350;350;350;350;350;350;350;350;350	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	N	350	ENSP00000380860:K350N;ENSP00000317272:K350N;ENSP00000410980:K350N	ENSP00000317272:K350N	K	+	3	2	MET	116127424	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.939000	0.40213	0.877000	0.35895	0.563000	0.77884	AAG		0.473	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			25	29	1	0	2.27525e-19	1	2.41315e-19	25	29				
USP43	124739	broad.mit.edu	37	17	9631744	9631744	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:9631744C>T	ENST00000285199.7	+	15	2905	c.2809C>T	c.(2809-2811)Cct>Tct	p.P937S	USP43_ENST00000570475.1_Missense_Mutation_p.P932S|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	937					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CACTGTGATGCCTTCAGTGGA	0.537																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(1876-1878)Cct>Tct		ubiquitin specific peptidase 43							27.0	29.0	28.0					17																	9631744		1964	4161	6125	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631744C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2809C>T	17.37:g.9631744C>T	ENSP00000285199:p.Pro937Ser					USP43_ENST00000285199.6_Missense_Mutation_p.P937S|USP43_ENST00000570475.1_Missense_Mutation_p.P932S	p.P626S			Q70EL4	UBP43_HUMAN			15	2950	+			937					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1876C>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921767	0.33908	.	.	ENSG00000154914	ENST00000285199	T	0.09817	2.94	5.4	2.09	0.27110	.	3.410550	0.00735	N	0.000966	T	0.07503	0.0189	N	0.16307	0.4	0.40618	D	0.981739	B;B;B;B	0.30281	0.028;0.275;0.01;0.275	B;B;B;B	0.28916	0.011;0.096;0.005;0.067	T	0.34527	-0.9825	10	0.25106	T	0.35	-23.0607	3.9966	0.09561	0.1968:0.6021:0.0:0.2011	.	932;626;937;449	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	S	937	ENSP00000285199:P937S	ENSP00000285199:P937S	P	+	1	0	USP43	9572469	0.000000	0.05858	0.997000	0.53966	0.693000	0.40251	0.311000	0.19380	0.808000	0.34231	0.655000	0.94253	CCT		0.537	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		6	8	0	0	0	1	0	6	8				
ZFAT	57623	broad.mit.edu	37	8	135524778	135524778	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:135524778C>T	ENST00000377838.3	-	14	3475	c.3301G>A	c.(3301-3303)Gtt>Att	p.V1101I	ZFAT_ENST00000520727.1_Missense_Mutation_p.V1089I|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1039I|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1089I|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1089I|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1101					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCCTTGAACGTCTTCTTCG	0.532																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3265-3267)Gtt>Att		zinc finger and AT hook domain containing							163.0	172.0	169.0					8																	135524778		2001	4163	6164	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524778C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3301G>A	8.37:g.135524778C>T	ENSP00000367069:p.Val1101Ile					ZFAT_ENST00000520214.1_Missense_Mutation_p.V1089I|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1089I|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1039I|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1101I|ZFAT_ENST00000520356.1_Intron	p.V1089I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3564	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1101					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3265G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	5.180	0.218706	0.09810	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.09630	2.96;2.99;2.97;2.96;2.98	4.8	2.99	0.34606	.	0.372134	0.28151	N	0.016402	T	0.05135	0.0137	N	0.19112	0.55	0.09310	N	1	P;P;B	0.45569	0.734;0.861;0.205	B;B;B	0.29353	0.101;0.06;0.038	T	0.33599	-0.9862	10	0.56958	D	0.05	-6.1601	9.2031	0.37272	0.1449:0.7786:0.0:0.0765	.	220;1039;1101	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	I	1089;1089;1101;1089;988;1039	ENSP00000427831:V1089I;ENSP00000394501:V1089I;ENSP00000367069:V1101I;ENSP00000428483:V1089I;ENSP00000429091:V1039I	ENSP00000326997:V988I	V	-	1	0	ZFAT	135593960	0.005000	0.15991	0.038000	0.18304	0.013000	0.08279	0.847000	0.27696	0.728000	0.32382	-0.244000	0.11960	GTT		0.532	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		55	321	0	0	0	1	0	55	321				
ARID1A	8289	broad.mit.edu	37	1	27106580	27106580	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:27106580T>G	ENST00000324856.7	+	20	6562	c.6191T>G	c.(6190-6192)cTc>cGc	p.L2064R	ARID1A_ENST00000540690.1_Missense_Mutation_p.L392R|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1681R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1847R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2064					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGTTACACTCGCCAACATC	0.557			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6190-6192)cTc>cGc		AT rich interactive domain 1A (SWI-like)							136.0	137.0	137.0					1																	27106580		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106580T>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6191T>G	1.37:g.27106580T>G	ENSP00000320485:p.Leu2064Arg					ARID1A_ENST00000374152.2_Missense_Mutation_p.L1681R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1847R|ARID1A_ENST00000540690.1_Missense_Mutation_p.L392R	p.L2064R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6562	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2064					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6191T>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916726	0.73098	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.71698	0.89;0.89;0.89;-0.59	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	M	0.81239	2.535	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.86848	0.2021	10	0.87932	D	0	-10.1896	15.3414	0.74300	0.0:0.0:0.0:1.0	.	1681;2064;1847	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	R	2064;1847;1681;392	ENSP00000320485:L2064R;ENSP00000387636:L1847R;ENSP00000363267:L1681R;ENSP00000442437:L392R	ENSP00000320485:L2064R	L	+	2	0	ARID1A	26979167	1.000000	0.71417	0.585000	0.28666	0.975000	0.68041	7.676000	0.84012	2.273000	0.75805	0.482000	0.46254	CTC		0.557	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		86	104	0	0	0	1	0	86	104				
HPCAL4	51440	broad.mit.edu	37	1	40148381	40148381	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:40148381C>T	ENST00000372844.3	-	4	794	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	135					central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATCATGATCACGGTGCCCACC	0.562																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(403-405)Gtg>Atg		hippocalcin like 4							92.0	79.0	83.0					1																	40148381		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40148381C>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.403G>A	1.37:g.40148381C>T	ENSP00000361935:p.Val135Met						p.V135M	NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	794	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	135					B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.403G>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.554902	0.86231	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.67345	-0.26	4.54	4.54	0.55810	EF-hand-like domain (1);	0.000000	0.64402	D	0.000003	T	0.76737	0.4029	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.71656	0.974;0.564	T	0.76929	-0.2777	10	0.45353	T	0.12	.	18.1681	0.89734	0.0:1.0:0.0:0.0	.	63;135	B4DGW9;Q9UM19	.;HPCL4_HUMAN	M	135;127	ENSP00000361935:V135M	ENSP00000361935:V135M	V	-	1	0	HPCAL4	39920968	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.655000	0.83696	2.473000	0.83533	0.313000	0.20887	GTG		0.562	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		32	57	0	0	0	1	0	32	57				
SMAP1	60682	broad.mit.edu	37	6	71501409	71501409	+	Silent	SNP	T	T	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:71501409T>A	ENST00000370455.3	+	5	680	c.432T>A	c.(430-432)gcT>gcA	p.A144A	SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	144					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTCTGATGCTCCTCTTCAGC	0.403																																						ENST00000370455.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(430-432)gcT>gcA		small ArfGAP 1							179.0	166.0	170.0					6																	71501409		1908	4116	6024	SO:0001819	synonymous_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71501409T>A	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.432T>A	6.37:g.71501409T>A						SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	p.A144A	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			5	680	+			144					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	37	c.432T>A	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.302286	0.23736	.	.	ENSG00000112305	ENST00000439432	.	.	.	4.16	1.74	0.24563	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19976	-1.0289	4	.	.	.	-8.2473	5.2323	0.15428	0.1576:0.086:0.0:0.7564	.	.	.	.	T	19	.	.	S	+	1	0	SMAP1	71558130	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.099000	0.41767	0.390000	0.25115	-0.333000	0.08304	TCC		0.403	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		30	35	0	0	0	1	0	30	35				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	83	0	0	0	1	0	5	83				
SEC11A	23478	broad.mit.edu	37	15	85259282	85259282	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:85259282C>T	ENST00000268220.7	-	1	665	c.25G>A	c.(25-27)Gat>Aat	p.D9N	SEC11A_ENST00000455959.3_5'UTR|SEC11A_ENST00000560266.1_Missense_Mutation_p.D9N|SEC11A_ENST00000558134.1_Missense_Mutation_p.D9N	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CGCCGCACATCGTCCAAAAAG	0.642																																						ENST00000268220.7																			0				ovary(1)	1						c.(25-27)Gat>Aat		SEC11 homolog A (S. cerevisiae)							44.0	53.0	50.0					15																	85259282		1996	4156	6152	SO:0001583	missense	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85259282C>T	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.25G>A	15.37:g.85259282C>T	ENSP00000268220:p.Asp9Asn					SEC11A_ENST00000560266.1_Missense_Mutation_p.D9N|SEC11A_ENST00000558134.1_Missense_Mutation_p.D9N|SEC11A_ENST00000455959.3_5'UTR	p.D9N	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		1	665	-			9					B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	ENST00000268220.7	37	c.25G>A	CCDS45340.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216858	0.95104	.	.	ENSG00000140612	ENST00000268220	.	.	.	5.1	5.1	0.69264	.	0.196194	0.43260	U	0.000592	T	0.54565	0.1866	L	0.56769	1.78	0.80722	D	1	P	0.35542	0.508	B	0.34931	0.192	T	0.60880	-0.7175	9	0.72032	D	0.01	.	13.8718	0.63624	0.0:1.0:0.0:0.0	.	9	P67812	SC11A_HUMAN	N	9	.	ENSP00000268220:D9N	D	-	1	0	SEC11A	83060286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.897000	0.56273	2.648000	0.89879	0.561000	0.74099	GAT		0.642	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		8	15	0	0	0	1	0	8	15				
SLC17A6	57084	broad.mit.edu	37	11	22396405	22396405	+	Silent	SNP	G	G	A	rs117003321	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:22396405G>A	ENST00000263160.3	+	9	1583	c.1146G>A	c.(1144-1146)acG>acA	p.T382T		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAACTACGACAGTGAGAA	0.368													G|||	5	0.000998403	0.0	0.0	5008	,	,		18672	0.0		0.002	False		,,,				2504	0.0031					ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(1144-1146)acG>acA		solute carrier family 17 (vesicular glutamate transporter), member 6		G		0,4406		0,0,2203	208.0	206.0	207.0		1146	-2.4	1.0	11	dbSNP_133	207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC17A6	NM_020346.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		382/583	22396405	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22396405G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1146G>A	11.37:g.22396405G>A							p.T382T	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			9	1583	+			382					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.1146G>A	CCDS7856.1																																																																																				0.368	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		40	108	0	0	0	1	0	40	108				
DOCK5	80005	broad.mit.edu	37	8	25167977	25167977	+	Missense_Mutation	SNP	A	A	T	rs139621203	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:25167977A>T	ENST00000276440.7	+	13	1291	c.1247A>T	c.(1246-1248)aAt>aTt	p.N416I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	416					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTCAGAAGAATTTTTCACAC	0.423																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1246-1248)aAt>aTt		dedicator of cytokinesis 5							83.0	82.0	82.0					8																	25167977		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25167977A>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1247A>T	8.37:g.25167977A>T	ENSP00000276440:p.Asn416Ile						p.N416I	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	13	1291	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	416					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1247A>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.37|18.37	3.609571|3.609571	0.66558|0.66558	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.17213	.|2.29	6.08|6.08	4.91|4.91	0.64330|0.64330	.|.	.|0.109571	.|0.64402	.|D	.|0.000011	T|T	0.10594|0.10594	0.0259|0.0259	N|N	0.08118|0.08118	0|0	0.47862|0.47862	D|D	0.999531|0.999531	.|B;B	.|0.20988	.|0.001;0.05	.|B;B	.|0.20184	.|0.011;0.028	T|T	0.08249|0.08249	-1.0731|-1.0731	5|10	.|0.87932	.|D	.|0	.|.	13.2822|13.2822	0.60222|0.60222	0.8675:0.1325:0.0:0.0|0.8675:0.1325:0.0:0.0	.|.	.|191;416	.|Q68DL4;Q9H7D0	.|.;DOCK5_HUMAN	D|I	187|416	.|ENSP00000276440:N416I	.|ENSP00000276440:N416I	E|N	+|+	3|2	2|0	DOCK5|DOCK5	25223894|25223894	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.468000|7.468000	0.80943|0.80943	1.107000|1.107000	0.41642|0.41642	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.423	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		15	17	0	0	0	1	0	15	17				
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4																			2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A							p.R122R	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		4	5	0	0	0	1	0	4	5				
TRIM17	51127	broad.mit.edu	37	1	228595913	228595913	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:228595913C>T	ENST00000366697.2	-	6	2379	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.V475M|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.V475M			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	475	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TATCCTTTCACCCACATGGTC	0.617																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(1423-1425)Gtg>Atg		tripartite motif containing 17							71.0	77.0	75.0					1																	228595913		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228595913C>T	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1423G>A	1.37:g.228595913C>T	ENSP00000355658:p.Val475Met					TRIM17_ENST00000366698.2_Missense_Mutation_p.V475M|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Missense_Mutation_p.V475M	p.V475M			Q9Y577	TRI17_HUMAN			6	2379	-		Prostate(94;0.0724)	475			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.1423G>A	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516126	0.64634	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.52983	0.64;0.64;0.64	4.07	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.198835	0.24933	N	0.034449	T	0.51975	0.1706	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.53373	-0.8448	10	0.56958	D	0.05	.	12.0576	0.53544	0.0:1.0:0.0:0.0	.	475	Q9Y577	TRI17_HUMAN	M	475	ENSP00000355658:V475M;ENSP00000355659:V475M;ENSP00000295033:V475M	ENSP00000295033:V475M	V	-	1	0	TRIM17	226662536	0.995000	0.38212	1.000000	0.80357	0.787000	0.44495	1.447000	0.35101	2.538000	0.85594	0.655000	0.94253	GTG		0.617	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		23	124	0	0	0	1	0	23	124				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390195	52390195	+	RNA	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:52390195T>C	ENST00000443374.2	+	0	1384				RP11-50E11.3_ENST00000609579.1_RNA																							AATCGAACTGTAGTACACTTG	0.398																																						ENST00000443374.1																			0																																																			0							g.chr10:52390195T>C																													10.37:g.52390195T>C														0	888	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.398	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			12	7	0	0	0	1	0	12	7				
ESPNP	284729	broad.mit.edu	37	1	17030903	17030905	+	RNA	DEL	GAG	GAG	-	rs67156338|rs376609585	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:17030903_17030905delGAG	ENST00000492551.1	-	0	696					NR_026567.1				espin pseudogene																		AGAGATCGACGAGGAGGGGGCCT	0.64														1867	0.372804	0.3245	0.3343	5008	,	,		43669	0.4474		0.3936	False		,,,				2504	0.3671					ENST00000492551.1																			0																																																			0							g.chr1:17030903_17030905delGAG	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17030906_17030908delGAG								NR_026567.1						0	696	-									RNA	DEL	ENST00000492551.1	37																																																																																						0.640	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	6						3	6	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		7	301						7	301	---	---	---	---
TRNAU1AP	54952	broad.mit.edu	37	1	28906819	28906820	+	IGR	INS	-	-	AA	rs147786269|rs397936635		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:28906819_28906820insAA	ENST00000373830.3	+	0	1793				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000384581.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000531126.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						gactccgtctcaaaaaaaaaaa	0.49																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:28906819_28906820insAA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906828_28906829dupAA						SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA								0	1100	-								Q86SU7	RNA	INS	ENST00000373830.3	37		CCDS324.1																																																																																				0.490	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		3	5						3	5	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32671482	32671482	+	Intron	DEL	G	G	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:32671482delG	ENST00000291358.6	+	1	63				RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Frame_Shift_Del_p.W67fs|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C											endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGAAAGCTGGGACCCACGG	0.657																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(199-201)tgfs		IQ motif containing C							21.0	18.0	19.0					1																	32671482		692	1591	2283	SO:0001627	intron_variant	55721							g.chr1:32671482delG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.42+158G>-	1.37:g.32671482delG						IQCC_ENST00000291358.6_Intron|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA	p.W67fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			1	247	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	328					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Del	DEL	ENST00000291358.6	37	c.200delG	CCDS355.1																																																																																				0.657	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		2	4						2	4	---	---	---	---
LOC645166	645166	broad.mit.edu	37	1	148930893	148930893	+	lincRNA	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:148930893delC	ENST00000539543.1	+	0	41					NR_027355.2																						GTGGATGGAGCCCCCCCCCCA	0.652																																						ENST00000539543.1																			0																																																			0							g.chr1:148930893delC																													1.37:g.148930893delC								NR_027355.1						0	41	+									RNA	DEL	ENST00000539543.1	37																																																																																						0.652	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				2	4						2	4	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229763491	229763492	+	Frame_Shift_Ins	INS	-	-	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:229763491_229763492insG	ENST00000258243.2	+	2	247_248	c.111_112insG	c.(112-114)ccafs	p.P38fs	TAF5L_ENST00000366674.1_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000477957.1_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	38						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P38T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGTGCTTTCTTCCAAATAAAGA	0.307																																						ENST00000258243.2																			1	Substitution - Missense(1)	p.P38T(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(109-114)ctcaaafs		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	9816					nucleolus		g.chr1:229763491_229763492insG	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	Exception_encountered	1.37:g.229763491_229763492insG	ENSP00000258243:p.Pro38fs						p.K38fs	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			2	247_248	+			38					Q5VYC9	Frame_Shift_Ins	INS	ENST00000258243.2	37	c.111_112insG	CCDS31052.1																																																																																				0.307	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		14	68						14	68	---	---	---	---
RP11-430H10.4	0	broad.mit.edu	37	11	45500261	45500261	+	lincRNA	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:45500261delC	ENST00000528445.1	-	0	535																											actggtccctcCCCTGCCCTC	0.522																																						ENST00000528445.1																			0																																																			0							g.chr11:45500261delC																													11.37:g.45500261delC														0	535	-									RNA	DEL	ENST00000528445.1	37																																																																																						0.522	RP11-430H10.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000390119.1			2	4						2	4	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100999426	100999427	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:100999426_100999427insC	ENST00000325455.5	-	1	1828_1829	c.375_376insG	c.(373-378)gggcagfs	p.Q126fs	PGR_ENST00000263463.5_Frame_Shift_Ins_p.Q126fs|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	126	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGTTGGCTCTGCCCGGGACCTG	0.653																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(373-378)ggagagfs		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)																																			SO:0001589	frameshift_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999426_100999427insC	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.376dupG	11.37:g.100999429_100999429dupC	ENSP00000325120:p.Gln126fs					PGR_ENST00000263463.5_Frame_Shift_Ins_p.E126fs|PGR_ENST00000534013.1_Intron	p.E126fs	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1828_1829	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	126			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Frame_Shift_Ins	INS	ENST00000325455.5	37	c.375_376insG	CCDS8310.1																																																																																				0.653	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			7	8						7	8	---	---	---	---
RP11-61O1.1	0	broad.mit.edu	37	14	98615354	98615355	+	lincRNA	INS	-	-	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr14:98615354_98615355insT	ENST00000555776.1	-	0	121																											tgcccagccCATTTTTTTCCTA	0.436																																						ENST00000555776.1																			0																																																			0							g.chr14:98615354_98615355insT																													14.37:g.98615361_98615361dupT														0	121	-									RNA	INS	ENST00000555776.1	37																																																																																						0.436	RP11-61O1.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413589.1			2	4						2	4	---	---	---	---
RP11-509A17.3	0	broad.mit.edu	37	15	20563423	20563423	+	lincRNA	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:20563423delC	ENST00000557528.1	+	0	1812				AC026495.1_ENST00000581090.1_RNA																							cccttcctctcccttcctctc	0.672																																						ENST00000581090.1																			0																																																			0							g.chr15:20563423delC																													15.37:g.20563423delC														0	63	+									RNA	DEL	ENST00000557528.1	37																																																																																						0.672	RP11-509A17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414658.1			3	5						3	5	---	---	---	---
RP11-24M17.5	0	broad.mit.edu	37	15	76071563	76071563	+	RNA	DEL	G	G	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:76071563delG	ENST00000395215.3	+	0	245																											AAGAGGCCCTGGGCCAAGGTG	0.512																																						ENST00000395215.3																			0																																																			0							g.chr15:76071563delG																													15.37:g.76071563delG														0	245	+									RNA	DEL	ENST00000395215.3	37																																																																																						0.512	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			2	4						2	4	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100338179	100338180	+	RNA	DEL	CA	CA	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:100338179_100338180delCA	ENST00000341853.1	-	0	1090					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CAGCAGTGGTCACACCTGGATG	0.465																																						ENST00000341853.1																			0																																																			0							g.chr15:100338179_100338180delCA	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100338181_100338182delCA								NR_003260.1						0	1090	-								Q3ZCN3	RNA	DEL	ENST00000341853.1	37																																																																																						0.465	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		2	4						2	4	---	---	---	---
HCFC1R1	54985	broad.mit.edu	37	16	3073870	3073870	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr16:3073870delC	ENST00000248089.3	-	1	377	c.73delG	c.(73-75)gtgfs	p.V25fs	THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.V25fs|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000572355.1_Intron|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000253952.9_5'Flank	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	25						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						CCCCAAGTCACCCCCAAGGCG	0.701																																						ENST00000248089.3																			0				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(73-75)tgfs		host cell factor C1 regulator 1 (XPO1 dependent)							7.0	9.0	8.0					16																	3073870		2099	4206	6305	SO:0001589	frameshift_variant	54985					cytoplasm|nucleus		g.chr16:3073870delC	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.73delG	16.37:g.3073870delC	ENSP00000248089:p.Val25fs					HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000572355.1_Intron|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.V25fs	p.V25fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN			1	377	-			25					D3DUA7|Q68EN7	Frame_Shift_Del	DEL	ENST00000248089.3	37	c.73delG	CCDS10490.1																																																																																				0.701	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1	NM_017885		2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	30						7	30	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45368618	45368632	+	In_Frame_Del	DEL	TTCCTGGACTGTACA	TTCCTGGACTGTACA	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:45368618_45368632delTTCCTGGACTGTACA	ENST00000252483.5	+	2	179_193	c.179_193delTTCCTGGACTGTACA	c.(178-195)gttcctggactgtacatc>gtc	p.PGLYI61del	PVRL2_ENST00000252485.4_In_Frame_Del_p.PGLYI61del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	61	Ig-like V-type.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTGCCACCTGTTCCTGGACTGTACATCTCCCTGGT	0.656																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(178-195)gtc>g		poliovirus receptor-related 2 (herpesvirus entry mediator B)																																				SO:0001651	inframe_deletion	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45368618_45368632delTTCCTGGACTGTACA	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.179_193delTTCCTGGACTGTACA	19.37:g.45368618_45368632delTTCCTGGACTGTACA	ENSP00000252483:p.Pro61_Ile65del					PVRL2_ENST00000252485.4_In_Frame_Del_p.VPGLYI60del	p.VPGLYI60del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	2	179_193	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	60			Ig-like V-type.		A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.179_193delTTCCTGGACTGTACA	CCDS42576.1																																																																																				0.656	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		19	71						19	71	---	---	---	---
EWSR1	2130	broad.mit.edu	37	22	29695296	29695296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:29695296delC	ENST00000397938.2	+	15	1972	c.1653delC	c.(1651-1653)ttcfs	p.F551fs	EWSR1_ENST00000331029.7_Frame_Shift_Del_p.F513fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.F478fs|EWSR1_ENST00000332035.6_Frame_Shift_Del_p.F495fs|EWSR1_ENST00000406548.1_Frame_Shift_Del_p.F550fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.F556fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAAGGCTTCCTCCCGCCAC	0.522			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1651-1653)ttfs		EWS RNA-binding protein 1							110.0	108.0	108.0					22																	29695296		2203	4300	6503	SO:0001589	frameshift_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695296delC		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1653delC	22.37:g.29695296delC	ENSP00000381031:p.Phe551fs					EWSR1_ENST00000332035.6_Frame_Shift_Del_p.F495fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.F556fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.F478fs|EWSR1_ENST00000406548.1_Frame_Shift_Del_p.F550fs|EWSR1_ENST00000331029.7_Frame_Shift_Del_p.F513fs	p.F551fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			15	1972	+			551					B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Del	DEL	ENST00000397938.2	37	c.1653delC	CCDS13851.1																																																																																				0.522	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		85	132						85	132	---	---	---	---
