#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			8	245	0	0	0	1	0	8	245				
WWP2	11060	broad.mit.edu	37	16	69874117	69874117	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:69874117G>A	ENST00000359154.2	+	5	530	c.429G>A	c.(427-429)ggG>ggA	p.G143G	WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Silent_p.G143G|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000542271.1_Silent_p.G27G	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	143					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGGACGGGCCAACTGTTG	0.592																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(427-429)ggG>ggA		WW domain containing E3 ubiquitin protein ligase 2							112.0	92.0	99.0					16																	69874117		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69874117G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.429G>A	16.37:g.69874117G>A						WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000356003.2_Silent_p.G143G|WWP2_ENST00000542271.1_Silent_p.G27G|WWP2_ENST00000544162.1_3'UTR	p.G143G	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			5	530	+			143					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.429G>A	CCDS10885.1																																																																																				0.592	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		4	191	0	0	0	1	0	4	191				
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000572681.2_Missense_Mutation_p.R1110W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R201W(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3328-3330)Cgg>Tgg		capicua transcriptional repressor							65.0	70.0	68.0					19																	42791715		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791715C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W	p.R1110W			Q96RK0	CIC_HUMAN			6	3396	+		Prostate(69;0.00682)	201			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3328C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			64	45	0	0	0	1	0	64	45				
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs150470		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e6+1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11014937C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2528+1G>A	21.37:g.11014937C>T										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	808	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.328	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	4	113	0	0	0	1	0	4	113				
RAD21	5885	broad.mit.edu	37	8	117866545	117866545	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:117866545C>A	ENST00000297338.2	-	9	1387	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V	RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523547.1_5'Flank|RAD21_ENST00000523986.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	367	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTCTACTCCTCCTGTCTCTTT	0.368																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1099-1101)gGa>gTa		RAD21 homolog (S. pombe)							104.0	105.0	105.0					8																	117866545		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117866545C>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1100G>T	8.37:g.117866545C>A	ENSP00000297338:p.Gly367Val						p.G367V	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			9	1387	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		367			Interaction with STAG1.|Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1100G>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700527	0.88924	.	.	ENSG00000164754	ENST00000297338	D	0.86230	-2.09	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.94082	0.8103	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93192	0.6584	10	0.42905	T	0.14	-5.2058	19.6983	0.96039	0.0:1.0:0.0:0.0	.	367	O60216	RAD21_HUMAN	V	367	ENSP00000297338:G367V	ENSP00000297338:G367V	G	-	2	0	RAD21	117935726	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.818000	0.86416	2.669000	0.90835	0.460000	0.39030	GGA		0.368	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		82	111	1	0	1.75807e-36	1	1.92289e-36	82	111				
ARHGEF9	23229	broad.mit.edu	37	X	62857999	62857999	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:62857999G>T	ENST00000253401.6	-	10	2260	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D	ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.A434D|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.A385D|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.A466D|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.A214D|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	487					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCGACTGAGCGATGCCGTC	0.552																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1459-1461)gCt>gAt		Cdc42 guanine nucleotide exchange factor (GEF) 9							83.0	67.0	73.0					X																	62857999		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62857999G>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1460C>A	X.37:g.62857999G>T	ENSP00000253401:p.Ala487Asp					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.A385D|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.A434D|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.A214D|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.A466D	p.A487D	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			10	2260	-			487					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1460C>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560854	0.45590	.	.	ENSG00000131089	ENST00000253401;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T	0.72615	-0.59;-0.67;-0.45;-0.07;-0.67	5.15	3.14	0.36123	.	0.407083	0.26684	N	0.023022	T	0.46795	0.1411	N	0.08118	0	0.39435	D	0.967143	B;B;B	0.18968	0.009;0.009;0.032	B;B;B	0.19946	0.017;0.027;0.027	T	0.37911	-0.9685	10	0.45353	T	0.12	.	6.5206	0.22272	0.1065:0.0:0.7156:0.1779	.	434;487;487	B4DHC7;O43307;A8K1S8	.;ARHG9_HUMAN;.	D	487;434;385;214;466	ENSP00000253401:A487D;ENSP00000399994:A434D;ENSP00000364004:A385D;ENSP00000404478:A214D;ENSP00000364006:A466D	ENSP00000253401:A487D	A	-	2	0	ARHGEF9	62774724	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.997000	0.63921	0.892000	0.36259	0.429000	0.28392	GCT		0.552	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			12	37	1	0	0.000151284	1	0.000160453	12	37				
TFR2	7036	broad.mit.edu	37	7	100230653	100230653	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:100230653G>A	ENST00000462107.1	-	7	1107	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000431692.1_Missense_Mutation_p.R274C			Q9UP52	TFR2_HUMAN	transferrin receptor 2	274					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	ACCCCCACGCGCACCAGCAGC	0.677																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(820-822)Cgc>Tgc		transferrin receptor 2							68.0	78.0	74.0					7																	100230653		2200	4295	6495	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100230653G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.820C>T	7.37:g.100230653G>A	ENSP00000420525:p.Arg274Cys					TFR2_ENST00000431692.1_Missense_Mutation_p.R274C|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000544242.1_5'UTR	p.R274C			Q9UP52	TFR2_HUMAN			7	1107	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		274					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.820C>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473866	0.84640	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.56275	0.47;0.47;0.47	6.04	6.04	0.98038	Protease-associated domain, PA (1);	0.068447	0.64402	D	0.000012	T	0.79862	0.4519	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	D	0.84734	0.0747	10	0.87932	D	0	-22.3494	18.073	0.89417	0.0:0.0:1.0:0.0	.	274	Q9UP52	TFR2_HUMAN	C	274	ENSP00000223051:R274C;ENSP00000413905:R274C;ENSP00000420525:R274C	ENSP00000223051:R274C	R	-	1	0	TFR2	100068589	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.562000	0.60816	2.873000	0.98535	0.561000	0.74099	CGC		0.677	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		5	288	0	0	0	1	0	5	288				
C2orf61	285051	broad.mit.edu	37	2	47382321	47382321	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:47382321T>C	ENST00000445927.2	-	1	196	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	C2orf61_ENST00000294947.2_Missense_Mutation_p.I24V|RP11-761B3.1_ENST00000422269.1_Intron	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	24								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAGCTGTGATGAATGATTCT	0.607																																						ENST00000294947.2																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|kidney(1)|lung(2)	4						c.(70-72)Atc>Gtc		chromosome 2 open reading frame 61							104.0	87.0	93.0					2																	47382321		2203	4300	6503	SO:0001583	missense	285051							g.chr2:47382321T>C	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.70A>G	2.37:g.47382321T>C	ENSP00000408527:p.Ile24Val					C2orf61_ENST00000445927.2_Missense_Mutation_p.I24V|CALM2_ENST00000422269.1_Intron	p.I24V	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		1	105	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	24					H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	c.70A>G	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.303759	0.00240	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.29917	1.55;1.56	2.25	0.0738	0.14392	.	.	.	.	.	T	0.07007	0.0178	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	9	0.10377	T	0.69	.	3.6009	0.08024	0.0:0.4153:0.3976:0.1871	.	24	Q8N801	CB061_HUMAN	V	24	ENSP00000408527:I24V;ENSP00000294947:I24V	ENSP00000294947:I24V	I	-	1	0	C2orf61	47235825	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.862000	0.04263	0.006000	0.14734	-0.534000	0.04291	ATC		0.607	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		15	43	0	0	0	1	0	15	43				
FLG2	388698	broad.mit.edu	37	1	152323466	152323466	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:152323466A>C	ENST00000388718.5	-	3	6868	c.6796T>G	c.(6796-6798)Tgg>Ggg	p.W2266G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2266					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGCCCCATGAGTGCACT	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6796-6798)Tgg>Ggg		filaggrin family member 2							334.0	311.0	319.0					1																	152323466		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323466A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6796T>G	1.37:g.152323466A>C	ENSP00000373370:p.Trp2266Gly					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.W2266G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6868	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2266					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6796T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.736344	0.00681	.	.	ENSG00000143520	ENST00000388718	T	0.34072	1.38	4.59	-6.0	0.02206	.	.	.	.	.	T	0.01189	0.0039	N	0.00088	-2.19	0.09310	N	1	B	0.19935	0.04	B	0.20384	0.029	T	0.40942	-0.9536	9	0.15499	T	0.54	-0.0063	1.1058	0.01693	0.2295:0.3527:0.1099:0.3078	.	2266	Q5D862	FILA2_HUMAN	G	2266	ENSP00000373370:W2266G	ENSP00000373370:W2266G	W	-	1	0	FLG2	150590090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.312000	0.01127	-1.199000	0.02666	-2.434000	0.00213	TGG		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	768	0	0	0	1	0	5	768				
HIVEP1	3096	broad.mit.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(6514-6516)Cga>Tga		human immunodeficiency virus type I enhancer binding protein 1							84.0	91.0	89.0					6																	12161698		1948	4148	6096	SO:0001587	stop_gained	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161698C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6514C>T	6.37:g.12161698C>T	ENSP00000368698:p.Arg2172*					HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	p.R2172*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			8	6846	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2172					B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	c.6514C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691961	0.88735	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	2.63	0.31362	.	0.000000	0.31392	N	0.007736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1929	14.4025	0.67056	0.576:0.424:0.0:0.0	.	.	.	.	X	2172;99;37;154	.	ENSP00000368698:R2172X	R	+	1	2	HIVEP1	12269684	0.999000	0.42202	0.995000	0.50966	0.717000	0.41224	0.624000	0.24462	0.631000	0.30412	0.655000	0.94253	CGA		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		82	150	0	0	0	1	0	82	150				
DCDC2	51473	broad.mit.edu	37	6	24205328	24205328	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:24205328C>T	ENST00000378454.3	-	8	1226	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E62K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	309					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAAATGCCTTCATCTATTGAG	0.413																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(925-927)Gaa>Aaa		doublecortin domain containing 2							190.0	181.0	184.0					6																	24205328		2203	4299	6502	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205328C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.925G>A	6.37:g.24205328C>T	ENSP00000367715:p.Glu309Lys					DCDC2_ENST00000378450.3_Missense_Mutation_p.E62K	p.E309K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			8	1226	-		Ovarian(999;0.101)	309					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.925G>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023653	0.93462	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.52754	4.19;0.65	6.07	6.07	0.98685	.	0.176882	0.50627	D	0.000116	T	0.60996	0.2312	L	0.55213	1.73	0.48762	D	0.999701	D;D	0.89917	0.988;1.0	P;D	0.76575	0.76;0.988	T	0.57370	-0.7823	10	0.52906	T	0.07	2.4353	20.2697	0.98465	0.0:1.0:0.0:0.0	.	309;62	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	K	309;62	ENSP00000367715:E309K;ENSP00000367711:E62K	ENSP00000367711:E62K	E	-	1	0	DCDC2	24313307	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.098000	0.64548	2.885000	0.99019	0.655000	0.94253	GAA		0.413	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		7	290	0	0	0	1	0	7	290				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	205	0	0	0	1	0	4	205				
ZFPM2	23414	broad.mit.edu	37	8	106814286	106814286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:106814286A>G	ENST00000407775.2	+	8	2226	c.1976A>G	c.(1975-1977)aAt>aGt	p.N659S	ZFPM2_ENST00000378472.4_Missense_Mutation_p.N390S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	659					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCAGTAACAATGATGACAAA	0.423																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1975-1977)aAt>aGt		zinc finger protein, FOG family member 2							61.0	57.0	58.0					8																	106814286		1868	4104	5972	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814286A>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1976A>G	8.37:g.106814286A>G	ENSP00000384179:p.Asn659Ser					RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N390S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N527S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	p.N659S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2226	+			659					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1976A>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.249026	0.00268	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.18016	2.24;2.72;2.72;3.93	5.57	-8.22	0.01037	.	0.788887	0.12787	N	0.439199	T	0.08268	0.0206	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38564	-0.9655	10	0.07644	T	0.81	.	21.476	0.99954	0.2639:0.0:0.7361:0.0	.	659	Q8WW38	FOG2_HUMAN	S	659;527;527;390	ENSP00000384179:N659S;ENSP00000430757:N527S;ENSP00000428720:N527S;ENSP00000367733:N390S	ENSP00000367733:N390S	N	+	2	0	ZFPM2	106883462	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-1.479000	0.02327	-1.643000	0.01519	-1.144000	0.01866	AAT		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			24	38	0	0	0	1	0	24	38				
POLA2	23649	broad.mit.edu	37	11	65055248	65055248	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:65055248G>A	ENST00000265465.3	+	11	1599	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	POLA2_ENST00000541089.1_Silent_p.T148T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	356					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACAGCATCACGTATGACCCCC	0.507																																						ENST00000265465.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(1066-1068)acG>acA		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						175.0	128.0	144.0					11																	65055248		2201	4297	6498	SO:0001819	synonymous_variant	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65055248G>A	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1068G>A	11.37:g.65055248G>A						POLA2_ENST00000541089.1_Silent_p.T148T	p.T356T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN			11	1599	+			356					B4DNB4|Q9BPV3	Silent	SNP	ENST00000265465.3	37	c.1068G>A	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	G	0.826	-0.746811	0.03065	.	.	ENSG00000014138	ENST00000525924	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40608	-0.9554	4	.	.	.	-11.7544	1.567	0.02606	0.3441:0.3134:0.1174:0.2251	.	.	.	.	H	26	.	.	R	+	2	0	POLA2	64811824	0.000000	0.05858	0.004000	0.12327	0.143000	0.21401	-3.138000	0.00587	-2.783000	0.00359	-0.794000	0.03295	CGT		0.507	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		55	69	0	0	0	1	0	55	69				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	84	0	0	0	1	0	4	84				
ENGASE	64772	broad.mit.edu	37	17	77078145	77078145	+	Splice_Site	SNP	G	G	A	rs377404114		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:77078145G>A	ENST00000579016.1	+	7	1038	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	ENGASE_ENST00000584568.1_3'UTR|ENGASE_ENST00000539857.2_Silent_p.K160K	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	346	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACACAGACAAGGTGGGTGGTG	0.627																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.e7+1		endo-beta-N-acetylglucosaminidase							81.0	106.0	98.0					17																	77078145		2128	4231	6359	SO:0001630	splice_region_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77078145G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1038+1G>A	17.37:g.77078145G>A						ENGASE_ENST00000539857.2_Silent_p.K160K|ENGASE_ENST00000584568.1_3'UTR	p.K346_splice	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			7	1038	+			346			BRCT.		Q659F0|Q8TB86|Q9H6U4	Splice_Site	SNP	ENST00000579016.1	37	c.1038_splice	CCDS42394.1																																																																																				0.627	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	Silent	65	98	0	0	0	1	0	65	98				
SEC24B	10427	broad.mit.edu	37	4	110459714	110459714	+	Silent	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr4:110459714A>G	ENST00000265175.5	+	23	3709	c.3654A>G	c.(3652-3654)agA>agG	p.R1218R	SEC24B_ENST00000399100.2_Silent_p.R1183R|SEC24B_ENST00000504968.2_Silent_p.R1248R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1218					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTGGCTTAGAGACAGCAGAC	0.358																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3652-3654)agA>agG		SEC24 family member B							154.0	149.0	150.0					4																	110459714		1873	4095	5968	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110459714A>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3654A>G	4.37:g.110459714A>G						SEC24B_ENST00000399100.2_Silent_p.R1183R|SEC24B_ENST00000504968.2_Silent_p.R1248R	p.R1218R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	23	3709	+		Hepatocellular(203;0.217)	1218					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.3654A>G	CCDS47124.1																																																																																				0.358	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			4	198	0	0	0	1	0	4	198				
ZNF800	168850	broad.mit.edu	37	7	127013897	127013897	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:127013897T>C	ENST00000393313.1	-	5	2084	c.1493A>G	c.(1492-1494)aAa>aGa	p.K498R	ZNF800_ENST00000393312.1_Missense_Mutation_p.K498R|ZNF800_ENST00000265827.3_Missense_Mutation_p.K498R|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAAGTTCTGTTTGGAAGTAAA	0.378																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1492-1494)aAa>aGa		zinc finger protein 800							65.0	59.0	61.0					7																	127013897		2203	4299	6502	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013897T>C	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1493A>G	7.37:g.127013897T>C	ENSP00000376989:p.Lys498Arg					ZNF800_ENST00000265827.3_Missense_Mutation_p.K498R|ZNF800_ENST00000393312.1_Missense_Mutation_p.K498R	p.K498R			Q2TB10	ZN800_HUMAN			5	2084	-			498					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1493A>G	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	T	4.970	0.180235	0.09443	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.22134	1.97;1.97;1.97	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.101084	0.64402	D	0.000003	T	0.16257	0.0391	N	0.21508	0.67	0.30226	N	0.796324	B;B	0.28291	0.206;0.206	B;B	0.28916	0.096;0.096	T	0.22277	-1.0221	8	.	.	.	-3.5564	15.6508	0.77091	0.0:0.0:0.0:1.0	.	401;498	B7Z4V7;Q2TB10	.;ZN800_HUMAN	R	498	ENSP00000376989:K498R;ENSP00000265827:K498R;ENSP00000376988:K498R	.	K	-	2	0	ZNF800	126801133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	2.289000	0.77006	0.482000	0.46254	AAA		0.378	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		78	114	0	0	0	1	0	78	114				
SUPT3H	8464	broad.mit.edu	37	6	45073683	45073683	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:45073683C>T	ENST00000371459.1	-	3	327	c.162G>A	c.(160-162)gtG>gtA	p.V54V	SUPT3H_ENST00000306867.5_Silent_p.V54V|SUPT3H_ENST00000371460.1_Silent_p.V65V|SUPT3H_ENST00000371461.2_Silent_p.V65V	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	136					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GAGTGTGTACCACATCTTCTA	0.328																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(193-195)gtG>gtA		suppressor of Ty 3 homolog (S. cerevisiae)							116.0	112.0	113.0					6																	45073683		2203	4300	6503	SO:0001819	synonymous_variant	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:45073683C>T	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.162G>A	6.37:g.45073683C>T						SUPT3H_ENST00000371459.1_Silent_p.V54V|SUPT3H_ENST00000306867.5_Silent_p.V54V|SUPT3H_ENST00000371461.2_Silent_p.V65V	p.V65V	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			5	512	-			136					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Silent	SNP	ENST00000371459.1	37	c.195G>A	CCDS34465.1																																																																																				0.328	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		51	141	0	0	0	1	0	51	141				
PITPNM3	83394	broad.mit.edu	37	17	6364830	6364830	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:6364830G>A	ENST00000262483.8	-	18	2440	c.2353C>T	c.(2353-2355)Ccg>Tcg	p.P785S	PITPNM3_ENST00000421306.3_Missense_Mutation_p.P749S|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	785					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGCATGTCCGGCCGTCCCGTG	0.607																																						ENST00000262483.8																			0											c.(2353-2355)Ccg>Tcg									172.0	156.0	161.0					17																	6364830		2203	4300	6503	SO:0001583	missense	0							g.chr17:6364830G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2353C>T	17.37:g.6364830G>A	ENSP00000262483:p.Pro785Ser					ACKR6_ENST00000421306.3_Missense_Mutation_p.P749S|ACKR6_ENST00000576664.1_5'UTR	p.P785S	NM_031220.3	NP_112497.2					18	2440	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2353C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770556	0.90108	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.75477	-0.94;-0.94	4.94	4.94	0.65067	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.87970	0.6312	M	0.90650	3.135	0.80722	D	1	D;P	0.58620	0.983;0.565	D;B	0.67900	0.954;0.239	D	0.90609	0.4550	10	0.87932	D	0	.	15.6383	0.76973	0.0:0.0:1.0:0.0	.	749;785	F8WEW5;Q9BZ71	.;PITM3_HUMAN	S	785;749	ENSP00000262483:P785S;ENSP00000407882:P749S	ENSP00000262483:P785S	P	-	1	0	PITPNM3	6305554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.713000	0.98740	2.293000	0.77203	0.462000	0.41574	CCG		0.607	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		5	269	0	0	0	1	0	5	269				
BCR	613	broad.mit.edu	37	22	23656796	23656796	+	Silent	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr22:23656796T>C	ENST00000305877.8	+	22	4372	c.3621T>C	c.(3619-3621)ttT>ttC	p.F1207F	BCR_ENST00000359540.3_Silent_p.F1163F|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1207	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCACGGTCTTTGGCCCCACGC	0.607			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(3619-3621)ttT>ttC		breakpoint cluster region							69.0	55.0	60.0					22																	23656796		2203	4300	6503	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23656796T>C		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3621T>C	22.37:g.23656796T>C						BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.F1163F	p.F1207F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			22	4372	+			1207			Rho-GAP.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.3621T>C	CCDS13806.1																																																																																				0.607	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		26	47	0	0	0	1	0	26	47				
MBTPS2	51360	broad.mit.edu	37	X	21896659	21896659	+	Silent	SNP	T	T	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:21896659T>G	ENST00000379484.5	+	9	1209	c.1110T>G	c.(1108-1110)gtT>gtG	p.V370V		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	370	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAACTCAAGTTTGCAGAACCA	0.318																																						ENST00000379484.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(1108-1110)gtT>gtG		membrane-bound transcription factor peptidase, site 2							96.0	95.0	96.0					X																	21896659		2203	4300	6503	SO:0001819	synonymous_variant	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21896659T>G	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1110T>G	X.37:g.21896659T>G							p.V370V	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN			9	1209	+			370			Cys-rich.		Q9UM70|Q9UMD3	Silent	SNP	ENST00000379484.5	37	c.1110T>G	CCDS14201.1																																																																																				0.318	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			5	389	0	0	0	1	0	5	389				
STX11	8676	broad.mit.edu	37	6	144508016	144508016	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:144508016C>T	ENST00000367568.4	+	2	435	c.252C>T	c.(250-252)cgC>cgT	p.R84R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	84					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCATCAAGCGCGACACCAACT	0.647									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(250-252)cgC>cgT		syntaxin 11							28.0	28.0	28.0					6																	144508016		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508016C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.252C>T	6.37:g.144508016C>T							p.R84R	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	435	+			84					E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.252C>T	CCDS5205.1																																																																																				0.647	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			23	33	0	0	0	1	0	23	33				
FER1L6	654463	broad.mit.edu	37	8	125078688	125078688	+	Missense_Mutation	SNP	G	G	A	rs369018172		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:125078688G>A	ENST00000522917.1	+	27	3781	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1192Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1192						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCCTTCCCGGAGGTCCACT	0.493																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3574-3576)cGg>cAg		fer-1-like 6 (C. elegans)		G	GLN/ARG	1,3781		0,1,1890	238.0	234.0	235.0		3575	5.6	1.0	8		235	0,8240		0,0,4120	no	missense	FER1L6	NM_001039112.2	43	0,1,6010	AA,AG,GG		0.0,0.0264,0.0083	possibly-damaging	1192/1858	125078688	1,12021	1891	4120	6011	SO:0001583	missense	654463					integral to membrane		g.chr8:125078688G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3575G>A	8.37:g.125078688G>A	ENSP00000428280:p.Arg1192Gln					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1192Q	p.R1192Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		27	3781	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1192						Missense_Mutation	SNP	ENST00000522917.1	37	c.3575G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112210	0.77210	2.64E-4	0.0	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81330	-1.48;-1.48	5.6	5.6	0.85130	.	2.714650	0.01760	U	0.030510	T	0.76111	0.3942	N	0.14661	0.345	0.58432	D	0.999999	D	0.67145	0.996	P	0.45119	0.47	T	0.66881	-0.5811	10	0.15499	T	0.54	-10.9629	19.2042	0.93723	0.0:0.0:1.0:0.0	.	1192	Q2WGJ9	FR1L6_HUMAN	Q	1192	ENSP00000428280:R1192Q;ENSP00000381982:R1192Q	ENSP00000381982:R1192Q	R	+	2	0	FER1L6	125147869	1.000000	0.71417	0.976000	0.42696	0.408000	0.30992	5.125000	0.64715	2.650000	0.89964	0.655000	0.94253	CGG		0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		176	261	0	0	0	1	0	176	261				
KIF26A	26153	broad.mit.edu	37	14	104643172	104643172	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:104643172G>A	ENST00000423312.2	+	12	4047	c.4047G>A	c.(4045-4047)aaG>aaA	p.K1349K	KIF26A_ENST00000315264.7_Silent_p.K1210K	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1349					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGCTCCCAAGGCGGGCTTCC	0.736																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3628-3630)aaG>aaA		kinesin family member 26A							4.0	5.0	5.0					14																	104643172		1756	3907	5663	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104643172G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4047G>A	14.37:g.104643172G>A						KIF26A_ENST00000423312.2_Silent_p.K1349K	p.K1210K			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	4008	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1349					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.3630G>A	CCDS45171.1																																																																																				0.736	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			4	7	0	0	0	1	0	4	7				
SPATA31E1	286234	broad.mit.edu	37	9	90500146	90500146	+	Silent	SNP	G	G	A	rs370494405		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr9:90500146G>A	ENST00000325643.5	+	4	810	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	248	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P248P(1)									CACCACAGCCGCATGGTCCCC	0.627																																						ENST00000325643.5																			1	Substitution - coding silent(1)	p.P248P(1)	lung(1)								c.(742-744)ccG>ccA		SPATA31 subfamily E, member 1							84.0	91.0	88.0					9																	90500146		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90500146G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.744G>A	9.37:g.90500146G>A							p.P248P	NM_178828.4	NP_849150.3					4	810	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.744G>A	CCDS6676.1																																																																																				0.627	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		5	229	0	0	0	1	0	5	229				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			57	118	0	0	0	1	0	57	118				
UTP14A	10813	broad.mit.edu	37	X	129042647	129042647	+	Splice_Site	SNP	C	C	T	rs188896474		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:129042647C>T	ENST00000394422.3	+	4	203	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Splice_Site_p.R59W	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	59					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TAATTTCAGGCGGAAATTGGC	0.428													C|||	1	0.000264901	0.0008	0.0	3775	,	,		15244	0.0		0.0	False		,,,				2504	0.0					ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.e4-1		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							228.0	226.0	227.0					X																	129042647		2203	4300	6503	SO:0001630	splice_region_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129042647C>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.174-1C>T	X.37:g.129042647C>T						UTP14A_ENST00000371051.5_Intron|UTP14A_ENST00000425117.2_Splice_Site_p.R59_splice|RP4-537K23.4_ENST00000432062.1_RNA	p.R59_splice	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			4	203	+			59					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Splice_Site	SNP	ENST00000394422.3	37	c.173_splice	CCDS14615.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.33	1.607246	0.28623	.	.	ENSG00000156697	ENST00000425117;ENST00000394422	T;T	0.18338	2.22;2.22	5.5	1.45	0.22620	.	0.573103	0.19723	N	0.107560	T	0.05960	0.0155	N	0.02973	-0.45	0.25911	N	0.983235	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.29458	-1.0011	10	0.45353	T	0.12	5.3414	4.4798	0.11762	0.0:0.4365:0.1563:0.4072	.	59;59	E9PEL7;Q9BVJ6	.;UT14A_HUMAN	W	59	ENSP00000388669:R59W;ENSP00000377944:R59W	ENSP00000377944:R59W	R	+	1	2	UTP14A	128870328	0.005000	0.15991	0.833000	0.33012	0.595000	0.36748	-0.938000	0.03938	-0.139000	0.11414	0.600000	0.82982	CGG		0.428	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	Missense_Mutation	6	758	0	0	0	1	0	6	758				
PCDHGA7	56108	broad.mit.edu	37	5	140762583	140762583	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr5:140762583G>A	ENST00000518325.1	+	1	117	c.117G>A	c.(115-117)acG>acA	p.T39T	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	39	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGGAGACGGACAAAGGGT	0.647																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(115-117)acG>acA									40.0	49.0	46.0					5																	140762583		2070	4241	6311	SO:0001819	synonymous_variant	0							g.chr5:140762583G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.117G>A	5.37:g.140762583G>A						PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T39T	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	117	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.117G>A	CCDS54927.1																																																																																				0.647	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		4	212	0	0	0	1	0	4	212				
KRT6B	3854	broad.mit.edu	37	12	52843396	52843396	+	Missense_Mutation	SNP	G	G	A	rs142625176		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr12:52843396G>A	ENST00000252252.3	-	5	981	c.934C>T	c.(934-936)Cac>Tac	p.H312Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	312	Linker 12.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.H312N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTGAGATGTGGGTCTGCATC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		24512	0.0		0.0	False		,,,				2504	0.0					ENST00000252252.3																			1	Substitution - Missense(1)	p.H312N(1)	lung(1)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(934-936)Cac>Tac		keratin 6B							129.0	118.0	122.0					12																	52843396		2203	4297	6500	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843396G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.934C>T	12.37:g.52843396G>A	ENSP00000252252:p.His312Tyr						p.H312Y	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	981	-			312			Linker 12.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.934C>T	CCDS8828.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.28	2.188906	0.38707	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.88896	-2.44	3.05	1.11	0.20524	Filament (1);	0.204155	0.34750	N	0.003719	D	0.88749	0.6521	M	0.88181	2.935	0.32732	N	0.50886	B	0.30870	0.298	B	0.32624	0.149	D	0.87651	0.2528	10	0.87932	D	0	.	7.6827	0.28524	0.0909:0.0:0.7476:0.1615	.	312	P04259	K2C6B_HUMAN	Y	312;272	ENSP00000252252:H312Y	ENSP00000252252:H312Y	H	-	1	0	KRT6B	51129663	1.000000	0.71417	0.975000	0.42487	0.759000	0.43091	5.286000	0.65639	0.313000	0.23062	0.298000	0.19748	CAC		0.512	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		109	173	0	0	0	1	0	109	173				
FLG	2312	broad.mit.edu	37	1	152280920	152280920	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:152280920C>T	ENST00000368799.1	-	3	6477	c.6442G>A	c.(6442-6444)Gga>Aga	p.G2148R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2148	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGTCTTCCTCCTCTGCTT	0.577									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6442-6444)Gga>Aga		filaggrin							402.0	324.0	350.0					1																	152280920		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280920C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6442G>A	1.37:g.152280920C>T	ENSP00000357789:p.Gly2148Arg					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2148R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6477	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2148			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6442G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.014	-0.000085	0.07819	.	.	ENSG00000143631	ENST00000368799	T	0.02280	4.36	2.87	-0.374	0.12512	.	.	.	.	.	T	0.00580	0.0019	L	0.41824	1.3	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.45716	-0.9242	9	0.16420	T	0.52	.	3.7224	0.08462	0.0:0.5436:0.2014:0.2549	.	2148	P20930	FILA_HUMAN	R	2148	ENSP00000357789:G2148R	ENSP00000357789:G2148R	G	-	1	0	FLG	150547544	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.714000	0.05002	-0.239000	0.09710	-1.417000	0.01113	GGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		292	855	0	0	0	1	0	292	855				
OTUD5	55593	broad.mit.edu	37	X	48792064	48792064	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:48792064T>C	ENST00000156084.4	-	4	890	c.830A>G	c.(829-831)aAt>aGt	p.N277S	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000428668.2_Missense_Mutation_p.N60S|OTUD5_ENST00000376488.3_Missense_Mutation_p.N277S|OTUD5_ENST00000396743.3_Missense_Mutation_p.N277S	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	277	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCCATGGCAATTGTTTTTCCG	0.473																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(829-831)aAt>aGt		OTU domain containing 5							236.0	188.0	204.0					X																	48792064		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48792064T>C		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.830A>G	X.37:g.48792064T>C	ENSP00000156084:p.Asn277Ser					OTUD5_ENST00000376488.3_Missense_Mutation_p.N277S|OTUD5_ENST00000428668.2_Missense_Mutation_p.N60S|OTUD5_ENST00000396743.3_Missense_Mutation_p.N277S|OTUD5_ENST00000484499.1_5'UTR	p.N277S	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			4	890	-			277			OTU.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.830A>G	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894319	0.52121	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.52	5.52	0.82312	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	N	0.13235	0.315	0.80722	D	1	B;B;B	0.28400	0.073;0.21;0.175	B;B;B	0.35859	0.05;0.212;0.135	T	0.11372	-1.0590	10	0.25106	T	0.35	-12.8822	13.757	0.62943	0.0:0.0:0.0:1.0	.	60;277;277	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	S	277;253;150;277;277;60	ENSP00000379969:N277S;ENSP00000390767:N150S;ENSP00000156084:N277S;ENSP00000365671:N277S;ENSP00000401629:N60S	ENSP00000156084:N277S	N	-	2	0	OTUD5	48677008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.386000	0.66238	1.961000	0.56991	0.430000	0.28490	AAT		0.473	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		5	382	0	0	0	1	0	5	382				
PCM1	5108	broad.mit.edu	37	8	17815110	17815110	+	Missense_Mutation	SNP	G	G	T	rs368148186|rs556667613	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:17815110G>T	ENST00000519253.1	+	13	2117	c.1866G>T	c.(1864-1866)gaG>gaT	p.E622D	PCM1_ENST00000524226.1_Missense_Mutation_p.E623D|PCM1_ENST00000325083.8_Missense_Mutation_p.E622D			Q15154	PCM1_HUMAN	pericentriolar material 1	622					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.E622D(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		aagatgatgaggaggaggagg	0.418			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								G|||	5	0.000998403	0.003	0.0	5008	,	,		19329	0.0		0.0	False		,,,				2504	0.001					ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	1	Substitution - Missense(1)	p.E622D(1)	large_intestine(1)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(1864-1866)gaG>gaT		pericentriolar material 1		G	ASP/GLU	3,4055		0,3,2026	58.0	58.0	58.0		1866	-1.1	1.0	8		58	1,8379		0,1,4189	no	missense	PCM1	NM_006197.3	45	0,4,6215	TT,TG,GG		0.0119,0.0739,0.0322	benign	622/2025	17815110	4,12434	2029	4190	6219	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17815110G>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1866G>T	8.37:g.17815110G>T	ENSP00000431099:p.Glu622Asp					PCM1_ENST00000524226.1_Missense_Mutation_p.E623D|PCM1_ENST00000519253.1_Missense_Mutation_p.E622D	p.E622D	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	13	2305	+			622					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1866G>T		.	.	.	.	.	.	.	.	.	.	G	9.406	1.079303	0.20227	7.39E-4	1.19E-4	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.12147	3.6;2.71;3.6;3.33	4.88	-1.13	0.09775	.	0.484213	0.22651	N	0.057322	T	0.08537	0.0212	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.14012	0.009;0.001;0.009;0.009	B;B;B;B	0.16722	0.016;0.007;0.011;0.016	T	0.31194	-0.9952	10	0.18276	T	0.48	-3.1996	0.7756	0.01031	0.2532:0.3181:0.2112:0.2175	.	622;661;623;622	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	D	622;661;622;623	ENSP00000327077:E622D;ENSP00000428131:E661D;ENSP00000431099:E622D;ENSP00000430521:E623D	ENSP00000327077:E622D	E	+	3	2	PCM1	17859390	0.010000	0.17322	0.981000	0.43875	0.962000	0.63368	-0.397000	0.07269	-0.337000	0.08426	0.585000	0.79938	GAG		0.418	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		3	22	1	0	0.115264	1	0.116934	3	22				
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:102964544T>C	ENST00000233954.1	+	9	1381	c.1110T>C	c.(1108-1110)acT>acC	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383																																						ENST00000233954.1																			2	Substitution - coding silent(2)	p.T370T(2)	lung(2)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1108-1110)acT>acC		interleukin 1 receptor-like 1							120.0	112.0	115.0					2																	102964544		2203	4300	6503	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102964544T>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1110T>C	2.37:g.102964544T>C							p.T370T	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN			9	1381	+			370					A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.1110T>C	CCDS2057.1																																																																																				0.383	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		5	105	0	0	0	1	0	5	105				
TRPM8	79054	broad.mit.edu	37	2	234905161	234905161	+	Splice_Site	SNP	G	G	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:234905161G>C	ENST00000324695.4	+	22	3170		c.e22+1		TRPM8_ENST00000433712.2_Splice_Site	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8						calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTGTCTGCTGTGAGTGGTTT	0.453																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.e22+1		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						136.0	123.0	127.0					2																	234905161		2203	4300	6503	SO:0001630	splice_region_variant	79054					integral to membrane		g.chr2:234905161G>C	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.3130+1G>C	2.37:g.234905161G>C						TRPM8_ENST00000433712.2_Splice_Site		NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	22	3170	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)						A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Splice_Site	SNP	ENST00000324695.4	37		CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137294	0.56936	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5649	0.91113	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPM8	234569900	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	6.662000	0.74426	2.793000	0.96121	0.655000	0.94253	.		0.453	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	Intron	39	91	0	0	0	1	0	39	91				
SUN3	256979	broad.mit.edu	37	7	48034064	48034064	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:48034064C>T	ENST00000297325.4	-	8	868	c.709G>A	c.(709-711)Gga>Aga	p.G237R	SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.G237R|SUN3_ENST00000453192.2_Missense_Mutation_p.G225R|SUN3_ENST00000412142.1_Missense_Mutation_p.G137R	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	237	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCACTTTCCAGGGTAGACA	0.438																																						ENST00000453192.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(673-675)Gga>Aga		Sad1 and UNC84 domain containing 3							121.0	120.0	120.0					7																	48034064		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48034064C>T	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.709G>A	7.37:g.48034064C>T	ENSP00000297325:p.Gly237Arg					SUN3_ENST00000412142.1_Missense_Mutation_p.G137R|SUN3_ENST00000297325.4_Missense_Mutation_p.G237R|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.G237R	p.G225R			Q8TAQ9	SUN3_HUMAN			9	916	-			237			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.673G>A	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778677	0.90195	.	.	ENSG00000164744	ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.45	5.45	0.79879	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.996;0.93;1.0	D	0.84243	0.0473	10	0.87932	D	0	.	16.9474	0.86233	0.0:1.0:0.0:0.0	.	225;137;237	E7EWC8;Q8TAQ9-2;Q8TAQ9	.;.;SUN3_HUMAN	R	237;59;137;237;225;137	ENSP00000297325:G237R;ENSP00000406887:G59R;ENSP00000410204:G137R;ENSP00000378939:G237R;ENSP00000387525:G225R;ENSP00000409077:G137R	ENSP00000297325:G237R	G	-	1	0	SUN3	48000589	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.374000	0.79633	2.602000	0.87976	0.551000	0.68910	GGA		0.438	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		19	201	0	0	0	1	0	19	201				
PIK3CA	5290	broad.mit.edu	37	3	178916929	178916929	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:178916929G>A	ENST00000263967.3	+	2	473	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		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.G106R(3)|p.G106_R108delGNR(2)|p.G106_R108del(1)|p.P104_G106>R(1)|p.E103_G106>D(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)	TGAACCAGTAGGCAACCGTGA	0.348		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		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		8	Substitution - Missense(3)|Deletion - In frame(3)|Complex - deletion inframe(2)	p.G106R(3)|p.G106_R108delGNR(2)|p.G106_R108del(1)|p.P104_G106>R(1)|p.E103_G106>D(1)	large_intestine(3)|breast(3)|lung(1)|endometrium(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.(316-318)Ggc>Agc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							90.0	86.0	87.0					3																	178916929		1824	4071	5895	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.chr3:178916929G>A		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.316G>A	3.37:g.178916929G>A	ENSP00000263967:p.Gly106Ser	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G106S	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)		2	473	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		106		G -> V (in cancer; shows an increase in lipid kinase activity).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.316G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734081	0.89482	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74842	0.76;-0.88	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	S	106	ENSP00000263967:G106S;ENSP00000417479:G106S	.	G	+	1	0	PIK3CA	180399623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.584000	0.87258	0.555000	0.69702	GGC		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			82	122	0	0	0	1	0	82	122				
KCNH4	23415	broad.mit.edu	37	17	40328179	40328179	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:40328179G>A	ENST00000264661.3	-	5	1054	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	241					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACGGTGACCGCAACGTAGAA	0.602																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(721-723)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 4							141.0	114.0	123.0					17																	40328179		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328179G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.722C>T	17.37:g.40328179G>A	ENSP00000264661:p.Ala241Val					KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	1054	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	241						Missense_Mutation	SNP	ENST00000264661.3	37	c.722C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	36	5.891215	0.97074	.	.	ENSG00000089558	ENST00000264661	D	0.97256	-4.31	5.45	5.45	0.79879	.	0.000000	0.40554	N	0.001070	D	0.98454	0.9485	M	0.88450	2.955	0.80722	D	1	D	0.67145	0.996	P	0.58970	0.849	D	0.99170	1.0864	10	0.87932	D	0	.	19.4711	0.94963	0.0:0.0:1.0:0.0	.	241	Q9UQ05	KCNH4_HUMAN	V	241	ENSP00000264661:A241V	ENSP00000264661:A241V	A	-	2	0	KCNH4	37581705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.611000	0.98342	2.840000	0.97914	0.655000	0.94253	GCG		0.602	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	283	0	0	0	1	0	5	283				
SLC52A3	113278	broad.mit.edu	37	20	744337	744337	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr20:744337G>A	ENST00000217254.7	-	3	1119	c.878C>T	c.(877-879)gCc>gTc	p.A293V	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Missense_Mutation_p.A293V	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	293					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GCAGCAGGGGGCTGCTTTCTC	0.647																																						ENST00000381944.3																			0											c.(877-879)gCc>gTc		solute carrier family 52 (riboflavin transporter), member 3							64.0	60.0	61.0					20																	744337		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744337G>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.878C>T	20.37:g.744337G>A	ENSP00000217254:p.Ala293Val					SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.A293V	p.A293V			Q9NQ40	RFT2_HUMAN			3	1119	-			293					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.878C>T	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536388	0.27475	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.72615	-0.62;-0.67	4.84	2.77	0.32553	.	0.546084	0.19220	N	0.119697	T	0.46756	0.1409	N	0.08118	0	0.09310	N	1	B;B	0.21071	0.051;0.03	B;B	0.22753	0.041;0.01	T	0.29610	-1.0006	10	0.25106	T	0.35	-15.2583	8.2478	0.31700	0.085:0.3028:0.6122:0.0	.	293;293	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	V	293	ENSP00000217254:A293V;ENSP00000371370:A293V	ENSP00000217254:A293V	A	-	2	0	C20orf54	692337	0.000000	0.05858	0.008000	0.14137	0.163000	0.22366	0.435000	0.21510	0.403000	0.25479	0.561000	0.74099	GCC		0.647	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		37	81	0	0	0	1	0	37	81				
PHEX	5251	broad.mit.edu	37	X	22231075	22231075	+	Splice_Site	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:22231075G>T	ENST00000379374.4	+	16	2265	c.1700G>T	c.(1699-1701)cGa>cTa	p.R567L	PHEX_ENST00000418858.3_Splice_Site_p.R270L|PHEX_ENST00000535894.1_Splice_Site_p.R470L|PHEX_ENST00000537599.1_Splice_Site_p.R567L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	567			R -> P (in XLHR; sporadic). {ECO:0000269|PubMed:10737991}.		bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GAATATCCTCGGTGAGTAAAT	0.388																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42	GRCh37	CM001284	PHEX	M		c.e16+1		phosphate regulating endopeptidase homolog, X-linked							95.0	91.0	92.0					X																	22231075		2203	4300	6503	SO:0001630	splice_region_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22231075G>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1700+1G>T	X.37:g.22231075G>T						PHEX_ENST00000535894.1_Splice_Site_p.R470_splice|PHEX_ENST00000418858.3_Splice_Site_p.R270_splice|PHEX_ENST00000537599.1_Splice_Site_p.R567_splice	p.R567_splice	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			16	2265	+			567		R -> P (in HYP; sporadic).			O00678|Q13646|Q2M325|Q93032|Q99827	Splice_Site	SNP	ENST00000379374.4	37	c.1700_splice	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184677	0.78677	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.69	5.69	0.88448	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90198	0.6936	N	0.21373	0.66	0.80722	D	1	D;D	0.58970	0.981;0.984	P;P	0.54460	0.638;0.753	D	0.91703	0.5375	10	0.72032	D	0.01	.	18.7851	0.91951	0.0:0.0:1.0:0.0	.	567;567	F5GXU4;P78562	.;PHEX_HUMAN	L	567;567;470;270	ENSP00000368682:R567L;ENSP00000440362:R567L;ENSP00000439418:R470L;ENSP00000443531:R270L	ENSP00000368682:R567L	R	+	2	0	PHEX	22140996	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.275000	0.89892	2.381000	0.81170	0.600000	0.82982	CGA		0.388	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	Missense_Mutation	4	295	1	0	0.150653	1	0.150653	4	295				
WASH4P	374677	broad.mit.edu	37	16	66954	66954	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:66954G>A	ENST00000326592.9	-	5	1340	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	DDX11L10_ENST00000513886.1_RNA|Z84812.4_ENST00000568710.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	228					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATGGACAAGGGGGCATCAAAC	0.582																																						ENST00000326592.9																			0											c.(682-684)Ccc>Tcc																																						SO:0001583	missense	0							g.chr16:66954G>A			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.682C>T	16.37:g.66954G>A	ENSP00000317542:p.Pro228Ser						p.P228S							5	1340	-									Missense_Mutation	SNP	ENST00000326592.9	37	c.682C>T		.	.	.	.	.	.	.	.	.	.	g	17.74	3.464270	0.63513	.	.	ENSG00000234769	ENST00000326592	.	.	.	0.379	0.379	0.16213	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.59247	-0.7490	6	0.72032	D	0.01	-7.9699	6.5509	0.22433	2.0E-4:0.0:0.9998:0.0	.	.	.	.	S	228	.	ENSP00000317542:P228S	P	-	1	0	WASH4P	6954	1.000000	0.71417	0.989000	0.46669	0.790000	0.44656	4.007000	0.57093	0.437000	0.26423	0.184000	0.17185	CCC		0.582	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159		15	40	0	0	0	1	0	15	40				
ETV1	2115	broad.mit.edu	37	7	13978772	13978772	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:13978772C>T	ENST00000430479.1	-	7	1002	c.335G>A	c.(334-336)aGc>aAc	p.S112N	ETV1_ENST00000403685.1_Missense_Mutation_p.S94N|ETV1_ENST00000405358.4_Missense_Mutation_p.S126N|ETV1_ENST00000405192.2_Missense_Mutation_p.S112N|ETV1_ENST00000399357.3_Missense_Mutation_p.S72N|ETV1_ENST00000242066.5_Missense_Mutation_p.S94N|ETV1_ENST00000420159.2_Missense_Mutation_p.S54N|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Missense_Mutation_p.S112N|ETV1_ENST00000343495.5_Missense_Mutation_p.S94N|ETV1_ENST00000403527.1_Missense_Mutation_p.S72N	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	112					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCATAGCTGAATTTAAA	0.418			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(280-282)aGc>aAc		ets variant 1							182.0	168.0	173.0					7																	13978772		1868	4103	5971	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13978772C>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.335G>A	7.37:g.13978772C>T	ENSP00000405327:p.Ser112Asn					ETV1_ENST00000405358.4_Missense_Mutation_p.S126N|ETV1_ENST00000403527.1_Missense_Mutation_p.S72N|ETV1_ENST00000405192.2_Missense_Mutation_p.S112N|ETV1_ENST00000405218.2_Missense_Mutation_p.S112N|ETV1_ENST00000420159.2_Missense_Mutation_p.S54N|ETV1_ENST00000403685.1_Missense_Mutation_p.S94N|ETV1_ENST00000242066.5_Missense_Mutation_p.S94N|ETV1_ENST00000430479.1_Missense_Mutation_p.S112N|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Missense_Mutation_p.S72N	p.S94N			P50549	ETV1_HUMAN			6	1019	-			112					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.281G>A	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407017	0.42715	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608;ENST00000421381	T;T;T;T;T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.45	5.45	0.79879	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.188146	0.64402	D	0.000010	T	0.31295	0.0792	N	0.19112	0.55	0.40518	D	0.9808	B;B;P;D;P;D;B	0.64830	0.425;0.002;0.924;0.992;0.722;0.994;0.004	B;B;P;D;B;D;B	0.72338	0.136;0.003;0.604;0.961;0.338;0.977;0.02	T	0.05852	-1.0860	10	0.14656	T	0.56	.	19.6482	0.95790	0.0:1.0:0.0:0.0	.	123;94;126;54;72;72;112	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	N	112;94;94;54;72;112;126;72;112;94;54;72;112	ENSP00000405327:S112N;ENSP00000242066:S94N;ENSP00000340853:S94N;ENSP00000411626:S54N;ENSP00000382293:S72N;ENSP00000385381:S112N;ENSP00000384085:S126N;ENSP00000384138:S72N;ENSP00000385551:S112N;ENSP00000385686:S94N;ENSP00000393078:S54N;ENSP00000394710:S72N;ENSP00000391043:S112N	ENSP00000242066:S94N	S	-	2	0	ETV1	13945297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.404000	0.66344	2.696000	0.92011	0.655000	0.94253	AGC		0.418	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		6	262	0	0	0	1	0	6	262				
OR5J2	282775	broad.mit.edu	37	11	55944704	55944704	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:55944704G>A	ENST00000312298.1	+	1	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACCTTCTCCGGAGTCATTGCC	0.468																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(610-612)gGa>gAa		olfactory receptor, family 5, subfamily J, member 2							169.0	129.0	143.0					11																	55944704		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944704G>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.611G>A	11.37:g.55944704G>A	ENSP00000310788:p.Gly204Glu						p.G204E	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	611	+	Esophageal squamous(21;0.00693)		204					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.611G>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348950	0.24426	.	.	ENSG00000174957	ENST00000312298	T	0.38401	1.14	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.240868	0.29059	N	0.013277	T	0.64527	0.2606	M	0.90977	3.165	0.09310	N	1	D	0.67145	0.996	D	0.68621	0.959	T	0.60915	-0.7168	10	0.87932	D	0	.	12.0987	0.53769	0.0:0.0:0.8273:0.1727	.	204	Q8NH18	OR5J2_HUMAN	E	204	ENSP00000310788:G204E	ENSP00000310788:G204E	G	+	2	0	OR5J2	55701280	0.000000	0.05858	0.035000	0.18076	0.001000	0.01503	0.091000	0.15046	2.263000	0.75096	0.591000	0.81541	GGA		0.468	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		16	237	0	0	0	1	0	16	237				
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T	rs370426022		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443																																						ENST00000369219.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.K476K(2)|p.K476N(1)	prostate(2)|endometrium(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)aaG>aaA		neuroblastoma breakpoint family, member 14							4.0	3.0	3.0					1																	148012531		897	1999	2896	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148012531C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1428G>A	1.37:g.148012531C>T							p.K476K			Q5TI25	NBPFE_HUMAN			12	1444	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.1428G>A		.	.	.	.	.	.	.	.	.	.	-	0.191	-1.053181	0.01965	.	.	ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29027	-1.0025	2	.	.	.	.	.	.	.	.	.	.	.	N	482;487;487	.	.	S	-	2	0	NBPF14	146479155	0.938000	0.31826	0.000000	0.03702	0.000000	0.00434	-1.468000	0.02350	-1.826000	0.01205	-1.864000	0.00558	AGC		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		5	193	0	0	0	1	0	5	193				
EHMT2	10919	broad.mit.edu	37	6	31847952	31847952	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:31847952G>A	ENST00000375537.4	-	28	3548	c.3542C>T	c.(3541-3543)gCc>gTc	p.A1181V	SLC44A4_ENST00000544672.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.A1147V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Missense_Mutation_p.A1238V|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1204V|SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000375562.4_5'Flank|SLC44A4_ENST00000465707.1_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1181					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGGGCAATGGCTTCGGCTGA	0.592																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3712-3714)gCc>gTc		euchromatic histone-lysine N-methyltransferase 2							61.0	55.0	57.0					6																	31847952		1511	2708	4219	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847952G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3542C>T	6.37:g.31847952G>A	ENSP00000364687:p.Ala1181Val					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1181V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A1147V|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1204V	p.A1238V			Q96KQ7	EHMT2_HUMAN			27	3712	-			1181					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3713C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003515	0.93287	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.72167	-0.63;-0.49;-0.43;-0.62	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	L	0.44542	1.39	0.80722	D	1	B;P;B;P	0.38642	0.381;0.641;0.381;0.508	B;B;B;B	0.28232	0.04;0.087;0.026;0.04	T	0.55661	-0.8106	10	0.36615	T	0.2	.	16.9061	0.86128	0.0:0.0:1.0:0.0	.	1204;1147;1181;1002	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	V	1238;1204;1147;1181;1002	ENSP00000379078:A1238V;ENSP00000364678:A1204V;ENSP00000364680:A1147V;ENSP00000364687:A1181V	ENSP00000364678:A1204V	A	-	2	0	EHMT2	31955931	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.145000	0.94634	2.362000	0.80069	0.561000	0.74099	GCC		0.592	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		40	68	0	0	0	1	0	40	68				
DNAH8	1769	broad.mit.edu	37	6	38794044	38794044	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:38794044T>A	ENST00000359357.3	+	27	3563	c.3309T>A	c.(3307-3309)aaT>aaA	p.N1103K	DNAH8_ENST00000441566.1_Missense_Mutation_p.N1103K|DNAH8_ENST00000449981.2_Missense_Mutation_p.N1320K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1103					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CATTTATTAATGAATACTTGA	0.348																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3307-3309)aaT>aaA		dynein, axonemal, heavy chain 8							98.0	96.0	96.0					6																	38794044		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38794044T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3309T>A	6.37:g.38794044T>A	ENSP00000352312:p.Asn1103Lys					DNAH8_ENST00000449981.2_Missense_Mutation_p.N1320K|DNAH8_ENST00000441566.1_Missense_Mutation_p.N1103K	p.N1103K							27	3563	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3309T>A		.	.	.	.	.	.	.	.	.	.	T	10.59	1.394228	0.25205	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.23552	1.94;1.93;1.9	5.33	-1.65	0.08291	.	0.433048	0.25509	N	0.030192	T	0.02929	0.0087	N	0.16478	0.41	0.32998	D	0.525891	B	0.06786	0.001	B	0.06405	0.002	T	0.40327	-0.9569	10	0.08599	T	0.76	.	4.942	0.13971	0.2294:0.3651:0.0:0.4055	.	1103	Q96JB1	DYH8_HUMAN	K	1308;1308;1103;1103	ENSP00000333363:N1308K;ENSP00000352312:N1103K;ENSP00000402294:N1103K	ENSP00000333363:N1308K	N	+	3	2	DNAH8	38902022	0.071000	0.21146	0.996000	0.52242	0.967000	0.64934	-0.242000	0.08928	-0.161000	0.10983	0.378000	0.23410	AAT		0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		60	116	0	0	0	1	0	60	116				
ARID1A	8289	broad.mit.edu	37	1	27094325	27094325	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:27094325G>T	ENST00000324856.7	+	11	3404	c.3033G>T	c.(3031-3033)ttG>ttT	p.L1011F	ARID1A_ENST00000374152.2_Missense_Mutation_p.L628F|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1011F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1011					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)		TCACCAAGTTGTATGAGCTGG	0.483			"""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.(3031-3033)ttG>ttT		AT rich interactive domain 1A (SWI-like)							141.0	118.0	126.0					1																	27094325		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.chr1:27094325G>T	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.3033G>T	1.37:g.27094325G>T	ENSP00000320485:p.Leu1011Phe					ARID1A_ENST00000457599.2_Missense_Mutation_p.L1011F|ARID1A_ENST00000374152.2_Missense_Mutation_p.L628F	p.L1011F	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)	11	3404	+		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)	1011					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3033G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207364	0.58343	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.49432	0.78;0.78;0.78	5.17	2.2	0.27929	ARID/BRIGHT DNA-binding domain (2);	0.000000	0.64402	D	0.000001	T	0.56804	0.2010	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.975;0.996;0.99	T	0.55192	-0.8179	10	0.87932	D	0	-4.6804	3.3727	0.07227	0.1759:0.1181:0.5857:0.1204	.	1011;1011;665	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	F	1011;1011;628	ENSP00000320485:L1011F;ENSP00000387636:L1011F;ENSP00000363267:L628F	ENSP00000320485:L1011F	L	+	3	2	ARID1A	26966912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.266000	0.33039	0.295000	0.22570	0.655000	0.94253	TTG		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		5	93	1	0	0.014758	1	0.015192	5	93				
TNC	3371	broad.mit.edu	37	9	117826999	117826999	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr9:117826999C>T	ENST00000350763.4	-	11	3825	c.3414G>A	c.(3412-3414)acG>acA	p.T1138T	TNC_ENST00000341037.4_Silent_p.T1138T|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Silent_p.T1138T|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1138	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGTATAAGGCGTAGCAGCCT	0.552																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(3412-3414)acG>acA		tenascin C							144.0	143.0	143.0					9																	117826999		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826999C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3414G>A	9.37:g.117826999C>T						TNC_ENST00000423613.2_Silent_p.T1138T|TNC_ENST00000341037.4_Silent_p.T1138T|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron	p.T1138T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			11	3825	-			1138			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.3414G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	c	5.326	0.245411	0.10077	.	.	ENSG00000041982	ENST00000544972	.	.	.	5.49	-2.29	0.06805	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34800	-0.9814	4	.	.	.	.	0.4237	0.00460	0.3276:0.1231:0.201:0.3483	.	.	.	.	T	65	.	.	A	-	1	0	TNC	116866820	0.000000	0.05858	0.988000	0.46212	0.596000	0.36781	-1.202000	0.03023	-0.112000	0.11979	-1.378000	0.01179	GCC		0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		5	370	0	0	0	1	0	5	370				
UNC5CL	222643	broad.mit.edu	37	6	40996229	40996229	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:40996229C>T	ENST00000373164.1	-	8	1500	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	UNC5CL_ENST00000244565.3_Silent_p.R480R|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	480	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCAGTCTAGCCGCTCCATGA	0.682											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1438-1440)cgG>cgA		unc-5 homolog C (C. elegans)-like							39.0	37.0	37.0					6																	40996229		2195	4286	6481	SO:0001819	synonymous_variant	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996229C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1440G>A	6.37:g.40996229C>T			OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Silent_p.R480R	p.R480R	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			9	1528	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		480			Death.		Q5TGU1	Silent	SNP	ENST00000373164.1	37	c.1440G>A	CCDS4847.1																																																																																				0.682	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		4	127	0	0	0	1	0	4	127				
OR4C46	119749	broad.mit.edu	37	11	51515348	51515348	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:51515348A>G	ENST00000328188.1	+	1	67	c.67A>G	c.(67-69)Aaa>Gaa	p.K23E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AAAGATGCAGAAAATCATATT	0.408																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(67-69)Aaa>Gaa		olfactory receptor, family 4, subfamily C, member 46							172.0	163.0	166.0					11																	51515348		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515348A>G		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.67A>G	11.37:g.51515348A>G	ENSP00000329056:p.Lys23Glu						p.K23E	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	67	+			23						Missense_Mutation	SNP	ENST00000328188.1	37	c.67A>G	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.389	0.439949	0.12104	.	.	ENSG00000185926	ENST00000328188	T	0.00433	7.43	2.63	2.63	0.31362	.	0.212592	0.23268	U	0.050055	T	0.00384	0.0012	M	0.66297	2.02	0.20489	N	0.999891	B	0.12630	0.006	B	0.21151	0.033	T	0.44817	-0.9303	10	0.59425	D	0.04	.	4.5179	0.11945	0.8404:0.0:0.1596:0.0	.	23	A6NHA9	O4C46_HUMAN	E	23	ENSP00000329056:K23E	ENSP00000329056:K23E	K	+	1	0	OR4C46	51371924	0.000000	0.05858	0.725000	0.30721	0.147000	0.21601	-0.317000	0.08060	1.239000	0.43787	0.113000	0.15668	AAA		0.408	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		5	247	0	0	0	1	0	5	247				
KMT2D	8085	broad.mit.edu	37	12	49420721	49420721	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr12:49420721C>T	ENST00000301067.7	-	48	15027	c.15028G>A	c.(15028-15030)Gca>Aca	p.A5010T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5010					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATAAACTCTGCCACTTCCCGC	0.607																																						ENST00000301067.7																			0											c.(15028-15030)Gca>Aca		lysine (K)-specific methyltransferase 2D							54.0	59.0	57.0					12																	49420721		2157	4261	6418	SO:0001583	missense	8085							g.chr12:49420721C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15028G>A	12.37:g.49420721C>T	ENSP00000301067:p.Ala5010Thr						p.A5010T	NM_003482.3	NP_003473.3					48	15027	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15028G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974672	0.34848	.	.	ENSG00000167548	ENST00000301067	T	0.78924	-1.22	4.01	4.01	0.46588	.	0.000000	0.36303	N	0.002670	T	0.62490	0.2432	N	0.14661	0.345	0.32293	N	0.566049	P	0.47762	0.9	B	0.42112	0.376	T	0.73474	-0.3971	10	0.87932	D	0	.	10.8046	0.46509	0.1895:0.8105:0.0:0.0	.	5010	O14686	MLL2_HUMAN	T	5010	ENSP00000301067:A5010T	ENSP00000301067:A5010T	A	-	1	0	MLL2	47706988	0.386000	0.25180	1.000000	0.80357	0.998000	0.95712	2.821000	0.48065	2.250000	0.74265	0.655000	0.94253	GCA		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			48	91	0	0	0	1	0	48	91				
CHRM1	1128	broad.mit.edu	37	11	62677783	62677783	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:62677783G>A	ENST00000306960.3	-	2	1331	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	264					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CTGGGGGCCCGGCAGCAGCGA	0.657																																						ENST00000306960.3																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(790-792)Cgg>Tgg		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)																																			SO:0001583	missense	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677783G>A	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.790C>T	11.37:g.62677783G>A	ENSP00000306490:p.Arg264Trp					AP000438.2_ENST00000543624.1_RNA	p.R264W	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN			2	1331	-			264					Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.790C>T	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	8.142	0.785477	0.16189	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.60548	0.21;0.18	4.72	0.212	0.15240	GPCR, rhodopsin-like superfamily (1);	0.429938	0.18600	N	0.136479	T	0.44871	0.1314	L	0.48362	1.52	0.26108	N	0.98072	B	0.06786	0.001	B	0.01281	0.0	T	0.41124	-0.9526	10	0.62326	D	0.03	-12.9274	6.6667	0.23044	0.0914:0.0:0.4721:0.4365	.	264	P11229	ACM1_HUMAN	W	264	ENSP00000306490:R264W;ENSP00000441188:R264W	ENSP00000306490:R264W	R	-	1	2	CHRM1	62434359	0.507000	0.26146	0.533000	0.28001	0.796000	0.44982	0.774000	0.26675	0.176000	0.19873	-0.261000	0.10672	CGG		0.657	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		9	183	0	0	0	1	0	9	183				
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-	rs373179673	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:142895155delC	ENST00000560287.1	+	0	29									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGCCTCAGGGCCCCCCCCCAG	0.746													|||unknown(ALL_OTHER_Ns)	2344	0.468051	0.7186	0.3357	5008	,	,		7117	0.2887		0.4036	False		,,,				2504	0.4744					ENST00000560287.1																			0																																																			0							g.chr3:142895155delC			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895155delC														0	29	+									RNA	DEL	ENST00000560287.1	37																																																																																						0.746	PBX2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417717.1	NG_002434		8	6						8	6	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs372773235|rs146191724	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:100384030_100384033delTTGT	ENST00000348028.3	+	0	7143				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505														1390	0.277556	0.3434	0.2406	5008	,	,		19485	0.0774		0.4602	False		,,,				2504	0.2331					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100384030_100384033delTTGT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100384038_100384041delTTGT						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7124	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	7						4	7	---	---	---	---
LINC01239	441389	broad.mit.edu	37	9	22823496	22823497	+	lincRNA	INS	-	-	C	rs11399184|rs397790863	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr9:22823496_22823497insC	ENST00000436786.1	+	0	1631_1632					NR_038977.1																						acttgggttttctgttgagatg	0.52													CC|C|CC|deletion	3892	0.777157	0.7179	0.8718	5008	,	,		16751	0.6865		0.834	False		,,,				2504	0.8252					ENST00000436786.1																			0																																																			0							g.chr9:22823496_22823497insC																													9.37:g.22823497_22823497dupC								NR_038977.1						0	1631_1632	+									RNA	INS	ENST00000436786.1	37																																																																																						0.520	RP11-399D6.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051938.1			5	4						5	4	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		11	11						11	11	---	---	---	---
IGHJ6	28475	broad.mit.edu	37	14	106329451	106329453	+	RNA	DEL	GTA	GTA	-	rs373021870|rs2338626|rs2338627|rs67183528|rs2338628|rs376479093	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:106329451_106329453delGTA	ENST00000390560.2	-	0	15_17				IGHJ1_ENST00000390565.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHD7-27_ENST00000439842.1_RNA|IGHJ5_ENST00000488476.1_RNA|IGHJ3_ENST00000463911.1_RNA					immunoglobulin heavy joining 6																		AGACGTCCATGTAGTAGTAGTAG	0.537																																						ENST00000390560.2																			0																																																			0							g.chr14:106329451_106329453delGTA	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106329460_106329462delGTA														0	15_17	-									RNA	DEL	ENST00000390560.2	37																																																																																						0.537	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		7	217						7	217	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57565278	57565280	+	In_Frame_Del	DEL	AGA	AGA	-	rs78462051		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:57565278_57565280delAGA	ENST00000267811.5	+	18	2028_2030	c.1724_1726delAGA	c.(1723-1728)gagaag>gag	p.K576del	TCF12_ENST00000559703.1_In_Frame_Del_p.K233del|TCF12_ENST00000543579.1_In_Frame_Del_p.K430del|TCF12_ENST00000537840.1_In_Frame_Del_p.K340del|TCF12_ENST00000559710.1_In_Frame_Del_p.K210del|TCF12_ENST00000557843.1_In_Frame_Del_p.K576del|TCF12_ENST00000452095.2_In_Frame_Del_p.K596del|TCF12_ENST00000438423.2_In_Frame_Del_p.K600del|TCF12_ENST00000333725.5_In_Frame_Del_p.K600del|TCF12_ENST00000343827.3_In_Frame_Del_p.K406del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	576					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATAGAAAGGGAGAAGGAGAGGCG	0.414			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1723-1728)gag>g		transcription factor 12																																				SO:0001651	inframe_deletion	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565278_57565280delAGA	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1724_1726delAGA	15.37:g.57565278_57565280delAGA	ENSP00000267811:p.Lys576del					TCF12_ENST00000452095.2_In_Frame_Del_p.EK595del|TCF12_ENST00000543579.1_In_Frame_Del_p.EK429del|TCF12_ENST00000333725.5_In_Frame_Del_p.EK599del|TCF12_ENST00000557843.1_In_Frame_Del_p.EK575del|TCF12_ENST00000343827.3_In_Frame_Del_p.EK405del|TCF12_ENST00000438423.2_In_Frame_Del_p.EK599del|TCF12_ENST00000559710.1_In_Frame_Del_p.EK209del|TCF12_ENST00000559703.1_In_Frame_Del_p.EK232del|TCF12_ENST00000537840.1_In_Frame_Del_p.EK339del	p.EK575del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	2028_2030	+		Colorectal(260;0.0907)	575					Q7Z3D9|Q86TC1|Q86VM2	In_Frame_Del	DEL	ENST00000267811.5	37	c.1724_1726delAGA	CCDS10159.1																																																																																				0.414	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		14	35						14	35	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73615044	73615064	+	In_Frame_Del	DEL	CCCACTGCCCCCGCTGCCACC	CCCACTGCCCCCGCTGCCACC	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:73615044_73615064delCCCACTGCCCCCGCTGCCACC	ENST00000261917.3	-	8	4363_4383	c.3370_3390delGGTGGCAGCGGGGGCAGTGGG	c.(3370-3390)ggtggcagcgggggcagtgggdel	p.GGSGGSG1124del		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1124					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTG	0.71																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(3370-3390)del		hyperpolarization activated cyclic nucleotide-gated potassium channel 4																																				SO:0001651	inframe_deletion	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615044_73615064delCCCACTGCCCCCGCTGCCACC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3370_3390delGGTGGCAGCGGGGGCAGTGGG	15.37:g.73615044_73615064delCCCACTGCCCCCGCTGCCACC	ENSP00000261917:p.Gly1124_Gly1130del						p.GGSGGSG1124del	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4363_4383	-			1124					Q9UMQ7	In_Frame_Del	DEL	ENST00000261917.3	37	c.3370_3390delGGTGGCAGCGGGGGCAGTGGG	CCDS10248.1																																																																																				0.710	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		6	4						6	4	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229.0	242.0	238.0					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		7	708						7	708	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			8	6						8	6	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														0							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA														0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		3	4						3	4	---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40345560	40345562	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:40345560_40345562delGCA	ENST00000301671.8	-	2	479_481	c.38_40delTGC	c.(37-42)ctgcca>cca	p.L13del	GHDC_ENST00000436923.2_In_Frame_Del_p.L13del|GHDC_ENST00000587427.1_In_Frame_Del_p.L13del|GHDC_ENST00000414034.3_In_Frame_Del_p.L13del|GHDC_ENST00000593209.1_In_Frame_Del_p.L13del|GHDC_ENST00000428494.2_In_Frame_Del_p.L13del|GHDC_ENST00000590520.1_5'UTR			Q8N2G8	GHDC_HUMAN	GH3 domain containing	13						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCCAATGTTGgcagcagcagcag	0.631																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(37-42)cca>c		GH3 domain containing			,,	153,2,2875		20,0,113,1,0,1381					,,	-3.0	0.0			4	312,7,5755		37,0,238,1,5,2756	no	codingComplex,codingComplex,codingComplex	GHDC	NM_032484.4,NM_001142623.1,NM_001142622.1	,,	57,0,351,2,5,4137	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2519,5.1155,5.2065	,,	,,		465,9,8630				SO:0001651	inframe_deletion	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40345560_40345562delGCA	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.38_40delTGC	17.37:g.40345569_40345571delGCA	ENSP00000301671:p.Leu13del					GHDC_ENST00000593209.1_In_Frame_Del_p.LP13del|GHDC_ENST00000587427.1_In_Frame_Del_p.LP13del|GHDC_ENST00000414034.3_In_Frame_Del_p.LP13del|GHDC_ENST00000436923.2_In_Frame_Del_p.LP13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000428494.2_In_Frame_Del_p.LP13del	p.LP13del			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	479_481	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	13					B4DQS4|E9PDB5|Q9BXM6	In_Frame_Del	DEL	ENST00000301671.8	37	c.38_40delTGC	CCDS11422.1																																																																																				0.631	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		2	4						2	4	---	---	---	---
