#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
FOXA1	3169	broad.mit.edu	37	14	38061312	38061312	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:38061312T>C	ENST00000250448.2	-	2	738	c.677A>G	c.(676-678)gAc>gGc	p.D226G	FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GACGAAGCAGTCATTGAAGGA	0.607																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(676-678)gAc>gGc		forkhead box A1							49.0	48.0	49.0					14																	38061312		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061312T>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.677A>G	14.37:g.38061312T>C	ENSP00000250448:p.Asp226Gly					FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G|FOXA1_ENST00000545425.2_5'UTR	p.D226G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	738	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		226					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.677A>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394232	0.83011	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95690	-3.78;-3.78	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	M	0.85099	2.735	0.80722	D	1	P	0.44627	0.839	P	0.56788	0.806	D	0.97601	1.0123	10	0.87932	D	0	.	12.0003	0.53226	0.0:0.0:0.0:1.0	.	226	P55317	FOXA1_HUMAN	G	226;193	ENSP00000250448:D226G;ENSP00000440178:D193G	ENSP00000250448:D226G	D	-	2	0	FOXA1	37131063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.761000	0.85260	1.671000	0.50874	0.329000	0.21502	GAC		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			11	12	0	0	0	1	0	11	12				
OR8D2	283160	broad.mit.edu	37	11	124189196	124189196	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124189196C>T	ENST00000357438.2	-	1	988	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTCTTCAGTGCATTTTTCACA	0.393																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(898-900)Gca>Aca		olfactory receptor, family 8, subfamily D, member 2							110.0	111.0	110.0					11																	124189196		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189196C>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.898G>A	11.37:g.124189196C>T	ENSP00000350022:p.Ala300Thr						p.A300T	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	988	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	300					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.898G>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	11.97	1.798059	0.31777	.	.	ENSG00000197263	ENST00000357438	T	0.42131	0.98	3.33	3.33	0.38152	.	0.139993	0.32401	N	0.006145	T	0.46983	0.1421	M	0.86805	2.84	0.09310	N	1	B	0.22541	0.071	B	0.17722	0.019	T	0.51505	-0.8697	10	0.66056	D	0.02	.	10.8307	0.46659	0.0:0.8985:0.0:0.1015	.	300	Q9GZM6	OR8D2_HUMAN	T	300	ENSP00000350022:A300T	ENSP00000350022:A300T	A	-	1	0	OR8D2	123694406	0.000000	0.05858	0.124000	0.21820	0.138000	0.21146	-0.027000	0.12371	2.202000	0.70862	0.523000	0.50628	GCA		0.393	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		37	50	0	0	0	1	0	37	50				
FLNC	2318	broad.mit.edu	37	7	128481581	128481581	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:128481581C>G	ENST00000325888.8	+	13	2342	c.2081C>G	c.(2080-2082)gCt>gGt	p.A694G	FLNC_ENST00000346177.6_Missense_Mutation_p.A694G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	694					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCATTGATGCTCGTGCAGCT	0.602																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2080-2082)gCt>gGt		filamin C, gamma							136.0	141.0	140.0					7																	128481581		2044	4199	6243	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481581C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2081C>G	7.37:g.128481581C>G	ENSP00000327145:p.Ala694Gly					FLNC_ENST00000346177.6_Missense_Mutation_p.A694G	p.A694G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			13	2342	+			694					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.2081C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635920	0.96693	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86230	-2.09;-2.09	5.57	5.57	0.84162	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.117945	0.56097	D	0.000021	D	0.92296	0.7556	M	0.76328	2.33	0.58432	D	0.999992	P;P	0.49783	0.578;0.928	P;P	0.56343	0.498;0.796	D	0.92599	0.6089	10	0.66056	D	0.02	.	19.5469	0.95302	0.0:1.0:0.0:0.0	.	694;694	Q14315-2;Q14315	.;FLNC_HUMAN	G	694	ENSP00000327145:A694G;ENSP00000344002:A694G	ENSP00000327145:A694G	A	+	2	0	FLNC	128268817	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.584000	0.82572	2.619000	0.88677	0.561000	0.74099	GCT		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			105	62	0	0	0	1	0	105	62				
TCN1	6947	broad.mit.edu	37	11	59620781	59620781	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:59620781C>T	ENST00000257264.3	-	8	1239	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	379	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATGAGCGCTCCTCCATTGTG	0.458																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1135-1137)Gag>Aag		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						95.0	96.0	96.0					11																	59620781		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620781C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1135G>A	11.37:g.59620781C>T	ENSP00000257264:p.Glu379Lys						p.E379K	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			8	1239	-		all_epithelial(135;0.198)	379					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1135G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567520	0.28003	.	.	ENSG00000134827	ENST00000257264	T	0.30714	1.52	4.97	-1.67	0.08238	.	0.782041	0.10644	N	0.650695	T	0.24509	0.0594	M	0.69823	2.125	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.33727	-0.9857	10	0.22109	T	0.4	-0.0907	1.8604	0.03187	0.1633:0.2561:0.3999:0.1807	.	379	P20061	TCO1_HUMAN	K	379	ENSP00000257264:E379K	ENSP00000257264:E379K	E	-	1	0	TCN1	59377357	0.000000	0.05858	0.005000	0.12908	0.183000	0.23260	-0.101000	0.10973	0.009000	0.14813	0.650000	0.86243	GAG		0.458	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		32	49	0	0	0	1	0	32	49				
DYNC2H1	79659	broad.mit.edu	37	11	103124075	103124075	+	Silent	SNP	C	C	G	rs574497162|rs431905500	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:103124075C>G	ENST00000375735.2	+	66	10248	c.10104C>G	c.(10102-10104)ctC>ctG	p.L3368L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3375L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3368	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTCCGCCTCTTTTTGTCAA	0.373																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(10102-10104)ctC>ctG		dynein, cytoplasmic 2, heavy chain 1							101.0	98.0	99.0					11																	103124075		1830	4079	5909	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103124075C>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10104C>G	11.37:g.103124075C>G						DYNC2H1_ENST00000398093.3_Silent_p.L3375L|DYNC2H1_ENST00000334267.7_Intron	p.L3368L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	66	10248	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3368			AAA 5 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.10104C>G	CCDS53701.1																																																																																				0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		36	5	0	0	0	1	0	36	5				
PANX3	116337	broad.mit.edu	37	11	124489568	124489568	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489568G>A	ENST00000284288.2	+	4	983	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	306					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ATCTGTCTATGAGATGCTCCC	0.443																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(916-918)Gag>Aag		pannexin 3							146.0	132.0	137.0					11																	124489568		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489568G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.916G>A	11.37:g.124489568G>A	ENSP00000284288:p.Glu306Lys						p.E306K	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	983	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	306						Missense_Mutation	SNP	ENST00000284288.2	37	c.916G>A	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169966	0.94768	.	.	ENSG00000154143	ENST00000284288	T	0.22336	1.96	5.5	5.5	0.81552	.	0.048637	0.85682	D	0.000000	T	0.34948	0.0915	M	0.71206	2.165	0.54753	D	0.999981	P	0.52316	0.952	P	0.46419	0.516	T	0.21245	-1.0251	10	0.72032	D	0.01	-11.8119	19.3982	0.94617	0.0:0.0:1.0:0.0	.	306	Q96QZ0	PANX3_HUMAN	K	306	ENSP00000284288:E306K	ENSP00000284288:E306K	E	+	1	0	PANX3	123994778	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.258000	0.95555	2.589000	0.87451	0.561000	0.74099	GAG		0.443	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			21	45	0	0	0	1	0	21	45				
SUGP1	57794	broad.mit.edu	37	19	19414786	19414786	+	Intron	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr19:19414786G>A	ENST00000247001.5	-	5	886				SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000334782.5_Missense_Mutation_p.T202M	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCTGTCGGGCGTCCCGAGTCC	0.577																																						ENST00000334782.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(604-606)aCg>aTg		SURP and G patch domain containing 1							193.0	186.0	188.0					19																	19414786		876	1991	2867	SO:0001627	intron_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414786G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.539-130C>T	19.37:g.19414786G>A						SUGP1_ENST00000247001.5_Intron|SUGP1_ENST00000585763.1_Intron	p.T202M			Q8IWZ8	SUGP1_HUMAN			5	617	-			0					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.605C>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655440	0.29425	.	.	ENSG00000105705	ENST00000334782	.	.	.	3.67	-1.06	0.10002	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39961	-0.9588	5	0.87932	D	0	.	4.5663	0.12187	0.5688:0.1842:0.2469:0.0	.	.	.	.	M	202	.	ENSP00000334032:T202M	T	-	2	0	SUGP1	19275786	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-0.119000	0.10676	-0.019000	0.14055	-0.137000	0.14449	ACG		0.577	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		5	126	0	0	0	1	0	5	126				
TNFRSF18	8784	broad.mit.edu	37	1	1139318	1139318	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:1139318G>A	ENST00000379268.2	-	5	751	c.632C>T	c.(631-633)tCg>tTg	p.S211L	TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S139L|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S204L|TNFRSF18_ENST00000328596.6_Nonsense_Mutation_p.R141*	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	211					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCTTCGGTCGACGGCGGCAC	0.697																																					GBM(157;472 1934 13810 14591 35952)	ENST00000328596.6																			0				lung(1)	1						c.(421-423)Cga>Tga		tumor necrosis factor receptor superfamily, member 18							14.0	18.0	17.0					1																	1139318		2174	4284	6458	SO:0001583	missense	8784				anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1139318G>A	AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.632C>T	1.37:g.1139318G>A	ENSP00000368570:p.Ser211Leu					TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S204L|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S139L|TNFRSF18_ENST00000379268.2_Missense_Mutation_p.S211L	p.R141*	NM_148901.1	NP_683699.1	Q9Y5U5	TNR18_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	420	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0					B1AME1|O95851|Q5U0I4|Q9NYJ9	Nonsense_Mutation	SNP	ENST00000379268.2	37	c.421C>T	CCDS10.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.35|13.35	2.211271|2.211271	0.39102|0.39102	.|.	.|.	ENSG00000186891|ENSG00000186891	ENST00000328596|ENST00000379268;ENST00000379265	.|T;T	.|0.59224	.|0.62;0.28	3.24|3.24	1.1|1.1	0.20463|0.20463	.|.	1.790560|.	0.03227|.	N|.	0.178442|.	.|T	.|0.23572	.|0.0570	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P;P	.|0.42757	.|0.789;0.789	.|B;B	.|0.27170	.|0.077;0.077	.|T	.|0.11372	.|-1.0590	.|8	0.02654|0.10377	T|T	1|0.69	-2.1458|-2.1458	2.9266|2.9266	0.05786|0.05786	0.1724:0.0:0.5667:0.2609|0.1724:0.0:0.5667:0.2609	.|.	.|211;204	.|Q9Y5U5;B1AME3	.|TNR18_HUMAN;.	X|L	141|211;204	.|ENSP00000368570:S211L;ENSP00000368567:S204L	ENSP00000328207:R141X|ENSP00000368567:S204L	R|S	-|-	1|2	2|0	TNFRSF18|TNFRSF18	1129181|1129181	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	0.643000|0.643000	0.24750|0.24750	0.272000|0.272000	0.22027|0.22027	0.643000|0.643000	0.83706|0.83706	CGA|TCG		0.697	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004083.2	NM_004195		6	6	0	0	0	1	0	6	6				
LCP1	3936	broad.mit.edu	37	13	46701744	46701744	+	Silent	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:46701744T>C	ENST00000398576.2	-	19	2254	c.1866A>G	c.(1864-1866)aaA>aaG	p.K622K	LCP1_ENST00000323076.2_Silent_p.K622K|LCP1_ENST00000435666.2_Silent_p.K191K			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	622	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTTCATTCCTTTCCCCATGA	0.562			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1864-1866)aaA>aaG		lymphocyte cytosolic protein 1 (L-plastin)							152.0	135.0	141.0					13																	46701744		2203	4300	6503	SO:0001819	synonymous_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701744T>C	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1866A>G	13.37:g.46701744T>C						LCP1_ENST00000435666.2_Silent_p.K191K|LCP1_ENST00000323076.2_Silent_p.K622K	p.K622K			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	19	2254	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	622			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	c.1866A>G	CCDS9403.1																																																																																				0.562	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		4	45	0	0	0	1	0	4	45				
DCHS1	8642	broad.mit.edu	37	11	6643327	6643327	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:6643327G>A	ENST00000299441.3	-	21	9991	c.9580C>T	c.(9580-9582)Ccc>Tcc	p.P3194S	RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3194					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P3194S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGCTGGGGGACATGGCCGA	0.622																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.P3194S(1)	upper_aerodigestive_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(9580-9582)Ccc>Tcc		dachsous cadherin-related 1							43.0	49.0	47.0					11																	6643327		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643327G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9580C>T	11.37:g.6643327G>A	ENSP00000299441:p.Pro3194Ser					RP11-732A19.5_ENST00000526456.1_RNA	p.P3194S	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9991	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3194					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.9580C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249174	0.39797	.	.	ENSG00000166341	ENST00000299441	T	0.56103	0.48	4.88	4.88	0.63580	.	0.000000	0.42172	D	0.000760	T	0.67306	0.2879	M	0.61703	1.905	0.46586	D	0.99911	D	0.76494	0.999	D	0.64144	0.922	T	0.65154	-0.6237	10	0.34782	T	0.22	.	16.7719	0.85539	0.0:0.0:1.0:0.0	.	3194	Q96JQ0	PCD16_HUMAN	S	3194	ENSP00000299441:P3194S	ENSP00000299441:P3194S	P	-	1	0	DCHS1	6599903	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	4.697000	0.61782	2.531000	0.85337	0.313000	0.20887	CCC		0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	24	0	0	0	1	0	3	24				
PANX3	116337	broad.mit.edu	37	11	124489288	124489288	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489288G>A	ENST00000284288.2	+	4	703	c.636G>A	c.(634-636)agG>agA	p.R212R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	212					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACCTCCTGAGGAACTCCCTCT	0.498																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(634-636)agG>agA		pannexin 3							151.0	105.0	121.0					11																	124489288		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489288G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.636G>A	11.37:g.124489288G>A							p.R212R	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	703	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	212						Silent	SNP	ENST00000284288.2	37	c.636G>A	CCDS8447.1																																																																																				0.498	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			18	16	0	0	0	1	0	18	16				
PANX3	116337	broad.mit.edu	37	11	124489636	124489636	+	Silent	SNP	G	G	C	rs376063465		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489636G>C	ENST00000284288.2	+	4	1051	c.984G>C	c.(982-984)gtG>gtC	p.V328V		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	328					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACCTCAATGTGATCCTTCTTT	0.453																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(982-984)gtG>gtC		pannexin 3							174.0	152.0	159.0					11																	124489636		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489636G>C	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.984G>C	11.37:g.124489636G>C							p.V328V	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	1051	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	328						Silent	SNP	ENST00000284288.2	37	c.984G>C	CCDS8447.1																																																																																				0.453	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			31	40	0	0	0	1	0	31	40				
SPOP	8405	broad.mit.edu	37	17	47696433	47696433	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:47696433G>C	ENST00000393328.2	-	6	755	c.390C>G	c.(388-390)gaC>gaG	p.D130E	SPOP_ENST00000347630.2_Missense_Mutation_p.D130E|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.D130E|SPOP_ENST00000503676.1_Missense_Mutation_p.D130E|SPOP_ENST00000393331.3_Missense_Mutation_p.D130E	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	130	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATCCCCAGTCTTTGCCTT	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(388-390)gaC>gaG		speckle-type POZ protein							121.0	124.0	123.0					17																	47696433		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696433G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.390C>G	17.37:g.47696433G>C	ENSP00000377001:p.Asp130Glu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.D130E|SPOP_ENST00000393328.2_Missense_Mutation_p.D130E|SPOP_ENST00000347630.2_Missense_Mutation_p.D130E|SPOP_ENST00000503676.1_Missense_Mutation_p.D130E	p.D130E	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	860	-			130			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.390C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975753	0.53720	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	4.44	0.53790	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	L	0.58969	1.84	0.80722	D	1	B	0.16802	0.019	B	0.23716	0.048	T	0.25537	-1.0129	10	0.30078	T	0.28	-0.0348	13.6659	0.62396	0.0743:0.0:0.9257:0.0	.	130	O43791	SPOP_HUMAN	E	130;130;130;130;14;130;83;130;130;130;130	ENSP00000377001:D130E;ENSP00000377004:D130E;ENSP00000240327:D130E;ENSP00000425905:D130E;ENSP00000420908:D130E;ENSP00000426986:D130E;ENSP00000420960:D130E;ENSP00000426262:D130E;ENSP00000424119:D130E	ENSP00000240327:D130E	D	-	3	2	SPOP	45051432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.688000	0.61715	1.511000	0.48818	0.563000	0.77884	GAC		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		47	70	0	0	0	1	0	47	70				
ATF7	11016	broad.mit.edu	37	12	53917100	53917100	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:53917100G>A	ENST00000548446.2	-	11	1339	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C	ATF7_ENST00000456903.4_Silent_p.C398C|ATF7_ENST00000328463.7_Silent_p.C409C|RP11-793H13.10_ENST00000591834.1_Silent_p.C398C|ATF7_ENST00000415113.1_Silent_p.C377C|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000420353.2_Silent_p.C398C			P17544	ATF7_HUMAN	activating transcription factor 7	409	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CAGTGACTGGGCAGTCTTTAT	0.448																																						ENST00000420353.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(1192-1194)tgC>tgT		activating transcription factor 7							158.0	147.0	150.0					12																	53917100		1968	4158	6126	SO:0001819	synonymous_variant	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53917100G>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1227C>T	12.37:g.53917100G>A						ATF7_ENST00000415113.1_Silent_p.C377C|ATF7_ENST00000548446.2_Silent_p.C409C|ATF7_ENST00000456903.4_Silent_p.C398C|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000328463.7_Silent_p.C409C|RP11-793H13.10_ENST00000591834.1_Silent_p.C398C	p.C398C	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN			11	1343	-			409			Essential for binding adenovirus 2 E1A.|Leucine-zipper.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	ENST00000548446.2	37	c.1194C>T																																																																																					0.448	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		3	50	0	0	0	1	0	3	50				
PANX3	116337	broad.mit.edu	37	11	124489586	124489586	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489586G>C	ENST00000284288.2	+	4	1001	c.934G>C	c.(934-936)Gat>Cat	p.D312H		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	312					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCCAGCTTTTGATCTCCTCAG	0.433																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(934-936)Gat>Cat		pannexin 3							150.0	136.0	141.0					11																	124489586		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489586G>C	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.934G>C	11.37:g.124489586G>C	ENSP00000284288:p.Asp312His						p.D312H	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	1001	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	312						Missense_Mutation	SNP	ENST00000284288.2	37	c.934G>C	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347140	0.61183	.	.	ENSG00000154143	ENST00000284288	T	0.21932	1.98	5.5	5.5	0.81552	.	0.096234	0.64402	D	0.000001	T	0.47060	0.1425	M	0.65975	2.015	0.43394	D	0.995511	D	0.89917	1.0	D	0.71184	0.972	T	0.39121	-0.9629	10	0.59425	D	0.04	-12.5435	19.3982	0.94617	0.0:0.0:1.0:0.0	.	312	Q96QZ0	PANX3_HUMAN	H	312	ENSP00000284288:D312H	ENSP00000284288:D312H	D	+	1	0	PANX3	123994796	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.430000	0.80321	2.589000	0.87451	0.561000	0.74099	GAT		0.433	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			17	47	0	0	0	1	0	17	47				
TBX1	6899	broad.mit.edu	37	22	19754359	19754359	+	Intron	SNP	C	C	G			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr22:19754359C>G	ENST00000329705.7	+	8	1138				TBX1_ENST00000359500.3_Intron|TBX1_ENST00000332710.4_Missense_Mutation_p.P486R	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GGAGCCGCGCCGCCCGGCTCC	0.761																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(1456-1458)cCg>cGg		T-box 1																																				SO:0001627	intron_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19754359C>G	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1009+834C>G	22.37:g.19754359C>G						TBX1_ENST00000329705.7_Intron|TBX1_ENST00000359500.3_Intron	p.P486R	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			9	1586	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	99					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.1457C>G	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224860	0.79576	.	.	ENSG00000184058	ENST00000332710	D	0.86097	-2.07	3.52	3.52	0.40303	.	0.706398	0.12115	U	0.498180	D	0.87826	0.6275	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86316	0.1689	10	0.72032	D	0.01	.	10.8404	0.46710	0.0:1.0:0.0:0.0	.	486	D9ZGG0	.	R	486	ENSP00000331791:P486R	ENSP00000331791:P486R	P	+	2	0	TBX1	18134359	0.504000	0.26123	1.000000	0.80357	0.977000	0.68977	2.004000	0.40854	2.278000	0.76064	0.385000	0.25706	CCG		0.761	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		4	8	0	0	0	1	0	4	8				
MYBPH	4608	broad.mit.edu	37	1	203140637	203140637	+	Missense_Mutation	SNP	G	G	A	rs77556926	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:203140637G>A	ENST00000255416.4	-	5	724	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	223	Ig-like C2-type 1.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCCCCGGTGCGCATGCTCACC	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		19721	0.0		0.002	False		,,,				2504	0.0				NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(667-669)Cgc>Tgc		myosin binding protein H		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	62.0	62.0		667	3.7	1.0	1	dbSNP_131	62	30,8570	21.0+/-64.5	0,30,4270	yes	missense	MYBPH	NM_004997.2	180	0,31,6472	AA,AG,GG		0.3488,0.0227,0.2384	probably-damaging	223/478	203140637	31,12975	2203	4300	6503	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203140637G>A	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.667C>T	1.37:g.203140637G>A	ENSP00000255416:p.Arg223Cys						p.R223C	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	5	724	-			223			Ig-like C2-type 1.		Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.667C>T	CCDS30975.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	20.4	3.981633	0.74474	2.27E-4	0.003488	ENSG00000133055	ENST00000255416	T	0.68479	-0.33	4.62	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	D	0.84388	0.5461	H	0.95328	3.655	0.58432	D	0.999997	D	0.76494	0.999	D	0.72338	0.977	D	0.86047	0.1523	10	0.87932	D	0	.	8.3387	0.32230	0.0793:0.0:0.7675:0.1532	.	223	Q13203	MYBPH_HUMAN	C	223	ENSP00000255416:R223C	ENSP00000255416:R223C	R	-	1	0	MYBPH	201407260	0.999000	0.42202	0.972000	0.41901	0.981000	0.71138	2.206000	0.42779	1.296000	0.44742	0.561000	0.74099	CGC		0.662	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		11	22	0	0	0	1	0	11	22				
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:108117798C>T	ENST00000452508.2	+	9	1198	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000278616.4_Missense_Mutation_p.R337C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTCAGGATTTCGTAATATTGC	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		6	Substitution - Missense(5)|Deletion - In frame(1)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)	haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1009-1011)Cgt>Tgt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated		C	CYS/ARG	0,4402		0,0,2201	60.0	61.0	61.0		1009	5.7	1.0	11	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	337/3057	108117798	1,12997	2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108117798C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1009C>T	11.37:g.108117798C>T	ENSP00000388058:p.Arg337Cys	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R337C	p.R337C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	8	1394	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	337		R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1009C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568847	0.86439	0.0	1.16E-4	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02369	4.32;4.62;4.62	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00022	-1.2342	10	0.87932	D	0	.	19.8868	0.96915	0.0:1.0:0.0:0.0	.	337	Q13315	ATM_HUMAN	C	337	ENSP00000435747:R337C;ENSP00000278616:R337C;ENSP00000388058:R337C	ENSP00000278616:R337C	R	+	1	0	ATM	107623008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.213000	0.58520	2.709000	0.92574	0.655000	0.94253	CGT		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		34	21	0	0	0	1	0	34	21				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		3	32	0	0	0	1	0	3	32				
GFOD1	54438	broad.mit.edu	37	6	13365848	13365848	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr6:13365848G>A	ENST00000379287.3	-	2	964	c.300C>T	c.(298-300)gaC>gaT	p.D100D	GFOD1_ENST00000379284.1_De_novo_Start_OutOfFrame	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	100						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGCGGAAAGCGTCCAGCGGCG	0.662																																						ENST00000379284.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18								glucose-fructose oxidoreductase domain containing 1							60.0	62.0	61.0					6																	13365848		2202	4294	6496	SO:0001819	synonymous_variant	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365848G>A	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.300C>T	6.37:g.13365848G>A						GFOD1_ENST00000379287.3_Silent_p.D100D		NM_001242628.1|NM_001242630.1	NP_001229557.1|NP_001229559.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		0	274	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)						A8E4L6|Q5T058|Q96JD4|Q9H5K2	Translation_Start_Site	SNP	ENST00000379287.3	37		CCDS4524.1																																																																																				0.662	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		33	50	0	0	0	1	0	33	50				
ERICH3	127254	broad.mit.edu	37	1	75038381	75038381	+	Silent	SNP	G	G	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:75038381G>T	ENST00000326665.5	-	14	3231	c.3013C>A	c.(3013-3015)Cgg>Agg	p.R1005R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1005	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACCTGCATCCGGCTTGCCTCT	0.542																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3013-3015)Cgg>Agg		chromosome 1 open reading frame 173							101.0	92.0	95.0					1																	75038381		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038381G>T																												ENST00000326665.5:c.3013C>A	1.37:g.75038381G>T						C1orf173_ENST00000433746.2_5'UTR	p.R1005R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3231	-			1005			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.3013C>A	CCDS30755.1																																																																																				0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			29	44	1	0	4.87955e-14	1	5.30386e-14	29	44				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	90	0	0	0	1	0	4	90				
PLEKHG3	26030	broad.mit.edu	37	14	65209152	65209152	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:65209152G>A	ENST00000394691.1	+	16	3064	c.2917G>A	c.(2917-2919)Gga>Aga	p.G973R	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.G917R|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G506R|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G478R			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	973							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGAAGAGGCTGGAGAGCCATT	0.587																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2749-2751)Gga>Aga		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							22.0	23.0	23.0					14																	65209152		2200	4293	6493	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209152G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2917G>A	14.37:g.65209152G>A	ENSP00000378183:p.Gly973Arg					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G973R|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G478R|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G506R	p.G917R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	3057	+			973					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2749G>A		.	.	.	.	.	.	.	.	.	.	G	10.38	1.332903	0.24167	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60920	0.6;0.15;1.5;1.5	5.73	0.44	0.16572	.	0.667617	0.13799	N	0.361989	T	0.43722	0.1260	L	0.50919	1.6	0.09310	N	1	B;B;B;B	0.20671	0.047;0.047;0.009;0.029	B;B;B;B	0.22386	0.039;0.039;0.004;0.01	T	0.31110	-0.9955	10	0.35671	T	0.21	.	2.3622	0.04310	0.1457:0.2321:0.4045:0.2177	.	506;478;973;917	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	R	917;973;506;478	ENSP00000247226:G917R;ENSP00000378183:G973R;ENSP00000450945:G506R;ENSP00000450973:G478R	ENSP00000247226:G917R	G	+	1	0	PLEKHG3	64278905	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.328000	0.19681	0.328000	0.23435	-0.169000	0.13324	GGA		0.587	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		10	16	0	0	0	1	0	10	16				
PANX3	116337	broad.mit.edu	37	11	124489570	124489570	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489570G>A	ENST00000284288.2	+	4	985	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	306					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTGTCTATGAGATGCTCCCAG	0.453																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(916-918)gaG>gaA		pannexin 3							151.0	136.0	141.0					11																	124489570		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489570G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.918G>A	11.37:g.124489570G>A							p.E306E	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	985	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	306						Silent	SNP	ENST00000284288.2	37	c.918G>A	CCDS8447.1																																																																																				0.453	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			22	46	0	0	0	1	0	22	46				
CMIP	80790	broad.mit.edu	37	16	81735396	81735396	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:81735396G>A	ENST00000537098.3	+	16	1959	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	CMIP_ENST00000539778.2_Silent_p.L535L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.L476L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	629						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						AGCGGGAGCTGAAGGAGCTGG	0.652																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1885-1887)ctG>ctA		c-Maf inducing protein							86.0	92.0	90.0					16																	81735396		2100	4225	6325	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81735396G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1887G>A	16.37:g.81735396G>A						CMIP_ENST00000539778.2_Silent_p.L535L|CMIP_ENST00000398040.4_Silent_p.L476L|CMIP_ENST00000566513.1_3'UTR	p.L629L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			16	1959	+			595					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.1887G>A	CCDS54044.1																																																																																				0.652	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		4	56	0	0	0	1	0	4	56				
KMT2C	58508	broad.mit.edu	37	7	151878020	151878020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:151878020G>A	ENST00000262189.6	-	36	7143	c.6925C>T	c.(6925-6927)Cag>Tag	p.Q2309*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2309*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2309					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAGTCAGACTGAGATCTTGGA	0.507																																						ENST00000355193.2																			0											c.(6925-6927)Cag>Tag		lysine (K)-specific methyltransferase 2C							108.0	98.0	101.0					7																	151878020		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151878020G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6925C>T	7.37:g.151878020G>A	ENSP00000262189:p.Gln2309*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2309*	p.Q2309*							36	7143	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.6925C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	45	11.803886	0.99604	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.26	5.26	0.73747	.	0.153090	0.30109	N	0.010392	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.2482	0.93912	0.0:0.0:1.0:0.0	.	.	.	.	X	2309	.	ENSP00000262189:Q2309X	Q	-	1	0	MLL3	151508953	1.000000	0.71417	0.105000	0.21289	0.010000	0.07245	6.059000	0.71133	2.618000	0.88619	0.655000	0.94253	CAG		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			50	18	0	0	0	1	0	50	18				
ADAMTS14	140766	broad.mit.edu	37	10	72511348	72511348	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr10:72511348A>T	ENST00000373207.1	+	17	2542	c.2542A>T	c.(2542-2544)Acc>Tcc	p.T848S	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.T851S	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	848	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGAGATGGACACCTATGAGTG	0.632																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2551-2553)Acc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							63.0	64.0	63.0					10																	72511348		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511348A>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2542A>T	10.37:g.72511348A>T	ENSP00000362303:p.Thr848Ser					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T848S	p.T851S	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			17	2551	+			848			TSP type-1 2.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2551A>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	4.023	0.001792	0.07819	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.60299	0.2;0.2	4.38	1.78	0.24846	.	0.209202	0.41001	N	0.000967	T	0.27697	0.0681	N	0.05230	-0.09	0.31126	N	0.708247	B;B	0.14012	0.004;0.009	B;B	0.13407	0.009;0.009	T	0.30534	-0.9975	10	0.06099	T	0.92	.	8.9326	0.35680	0.5712:0.0:0.0:0.4288	.	848;851	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	S	851;848	ENSP00000362304:T851S;ENSP00000362303:T848S	ENSP00000362303:T848S	T	+	1	0	ADAMTS14	72181354	1.000000	0.71417	0.978000	0.43139	0.629000	0.37895	2.222000	0.42926	0.693000	0.31634	0.460000	0.39030	ACC		0.632	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		16	23	0	0	0	1	0	16	23				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			0							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A								NR_002164.1						0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	161	0	0	0	1	0	4	161				
CHST15	51363	broad.mit.edu	37	10	125805805	125805805	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr10:125805805G>A	ENST00000346248.5	-	0	566				CHST15_ENST00000435907.1_De_novo_Start_InFrame|CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_De_novo_Start_InFrame	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCGCAAGTCGTGCTAGAAAA	0.517																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26								carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15																																						51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805805G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208		10.37:g.125805805G>A						CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_De_novo_Start_InFrame|CHST15_ENST00000435907.1_De_novo_Start_InFrame		NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			0	566	-								O60338|O60474|Q86VM4	Translation_Start_Site	SNP	ENST00000346248.5	37		CCDS7638.1																																																																																				0.517	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		7	7	0	0	0	1	0	7	7				
WNK3	65267	broad.mit.edu	37	X	54259322	54259322	+	Missense_Mutation	SNP	C	C	T	rs201518613		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chrX:54259322C>T	ENST00000375159.2	-	20	4759	c.4760G>A	c.(4759-4761)cGt>cAt	p.R1587H	WNK3_ENST00000375169.3_Missense_Mutation_p.R1540H|WNK3_ENST00000354646.2_Missense_Mutation_p.R1587H			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1587					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTTGGTCGACGTGGTGATGC	0.458													C|||	1	0.000264901	0.0	0.0	3775	,	,		11546	0.001		0.0	False		,,,				2504	0.0					ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4759-4761)cGt>cAt		WNK lysine deficient protein kinase 3							150.0	134.0	139.0					X																	54259322		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54259322C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4760G>A	X.37:g.54259322C>T	ENSP00000364301:p.Arg1587His					WNK3_ENST00000375169.3_Missense_Mutation_p.R1540H|WNK3_ENST00000375159.2_Missense_Mutation_p.R1587H	p.R1587H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			21	5198	-			1540					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.4760G>A	CCDS14357.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	32	5.114029	0.94339	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	D;D;D	0.87029	-2.2;-1.87;-1.87	5.69	5.69	0.88448	.	0.000000	0.53938	D	0.000041	D	0.93086	0.7799	M	0.69823	2.125	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.93693	0.7009	10	0.87932	D	0	-9.8281	17.4246	0.87522	0.0:1.0:0.0:0.0	.	1540;1587	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	H	1540;1587;1587	ENSP00000364312:R1540H;ENSP00000346667:R1587H;ENSP00000364301:R1587H	ENSP00000346667:R1587H	R	-	2	0	WNK3	54276047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.618000	0.74214	2.383000	0.81215	0.594000	0.82650	CGT		0.458	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		5	36	0	0	0	1	0	5	36				
ATP13A5	344905	broad.mit.edu	37	3	193032862	193032862	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr3:193032862G>A	ENST00000342358.4	-	18	2174	c.2057C>T	c.(2056-2058)aCa>aTa	p.T686I	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'Flank	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	686						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCCCAGAAATGTTAACTCTGA	0.358																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2056-2058)aCa>aTa		ATPase type 13A5							95.0	93.0	94.0					3																	193032862		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193032862G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2057C>T	3.37:g.193032862G>A	ENSP00000341942:p.Thr686Ile						p.T686I	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	18	2174	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		686					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2057C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	8.840	0.942080	0.18281	.	.	ENSG00000187527	ENST00000342358	T	0.71698	-0.59	5.56	4.67	0.58626	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.538753	0.19586	N	0.110728	T	0.47173	0.1431	N	0.05534	-0.03	0.25824	N	0.98424	B	0.09022	0.002	B	0.14023	0.01	T	0.19910	-1.0291	10	0.30854	T	0.27	-8.0201	7.812	0.29237	0.1718:0.0:0.8282:0.0	.	686	Q4VNC0	AT135_HUMAN	I	686	ENSP00000341942:T686I	ENSP00000341942:T686I	T	-	2	0	ATP13A5	194515556	0.949000	0.32298	0.994000	0.49952	0.958000	0.62258	1.904000	0.39868	2.792000	0.96026	0.557000	0.71058	ACA		0.358	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		9	180	0	0	0	1	0	9	180				
GALNT12	79695	broad.mit.edu	37	9	101608342	101608342	+	Silent	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr9:101608342T>C	ENST00000375011.3	+	9	1542	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	514	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CAGGAATGGATACCCTTATCA	0.498																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1540-1542)gaT>gaC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							129.0	116.0	121.0					9																	101608342		2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101608342T>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1542T>C	9.37:g.101608342T>C							p.D514D	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			9	1542	+		Acute lymphoblastic leukemia(62;0.0559)	514			Ricin B-type lectin.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.1542T>C	CCDS6737.1																																																																																				0.498	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		22	38	0	0	0	1	0	22	38				
SCUBE1	80274	broad.mit.edu	37	22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T	rs201101225		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr22:43625113C>T	ENST00000360835.4	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	350	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGTAGCCGCGGTGACACAG	0.677											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		17295	0.0		0.0	False		,,,				2504	0.0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1048-1050)cGc>cAc		signal peptide, CUB domain, EGF-like 1							85.0	59.0	68.0					22																	43625113		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43625113C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1049G>A	22.37:g.43625113C>T	ENSP00000354080:p.Arg350His		OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	917		p.R350H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			9	1175	-		all_neural(38;0.0414)|Ovarian(80;0.07)	350			EGF-like 8; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1049G>A	CCDS14048.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.69	2.908995	0.52439	.	.	ENSG00000159307	ENST00000360835	D	0.92199	-2.99	4.96	2.8	0.32819	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.231622	0.41605	N	0.000847	D	0.82660	0.5085	N	0.16862	0.45	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.74990	-0.3475	10	0.51188	T	0.08	.	6.3429	0.21332	0.0:0.567:0.0:0.433	.	350	Q8IWY4	SCUB1_HUMAN	H	350	ENSP00000354080:R350H	ENSP00000354080:R350H	R	-	2	0	SCUBE1	41955057	0.764000	0.28473	0.977000	0.42913	0.412000	0.31113	1.204000	0.32296	0.729000	0.32403	-0.345000	0.07892	CGC		0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		7	19	0	0	0	1	0	7	19				
FBN3	84467	broad.mit.edu	37	19	8203374	8203374	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr19:8203374G>A	ENST00000600128.1	-	9	1354	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	FBN3_ENST00000601739.1_Missense_Mutation_p.R314C|FBN3_ENST00000270509.2_Missense_Mutation_p.R314C			Q75N90	FBN3_HUMAN	fibrillin 3	314	TB 2.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTGCCTGCGAGTGTAGTGG	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(940-942)Cgc>Tgc		fibrillin 3							25.0	27.0	26.0					19																	8203374		2203	4298	6501	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203374G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.940C>T	19.37:g.8203374G>A	ENSP00000470498:p.Arg314Cys					FBN3_ENST00000601739.1_Missense_Mutation_p.R314C|FBN3_ENST00000270509.2_Missense_Mutation_p.R314C	p.R314C			Q75N90	FBN3_HUMAN			9	1354	-			314			TB 2.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.940C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	18.61	3.661176	0.67700	.	.	ENSG00000142449	ENST00000270509	D	0.93019	-3.15	4.06	2.87	0.33458	Matrix fibril-associated (3);TGF-beta binding (1);	0.360841	0.26975	U	0.021550	D	0.92169	0.7517	L	0.38175	1.15	0.30038	N	0.812858	D	0.71674	0.998	P	0.57846	0.828	D	0.88063	0.2795	10	0.59425	D	0.04	.	9.1061	0.36698	0.0:0.0:0.5077:0.4923	.	314	Q75N90	FBN3_HUMAN	C	314	ENSP00000270509:R314C	ENSP00000270509:R314C	R	-	1	0	FBN3	8109374	1.000000	0.71417	0.146000	0.22360	0.559000	0.35586	6.198000	0.72106	1.974000	0.57490	0.556000	0.70494	CGC		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		11	18	0	0	0	1	0	11	18				
KL	9365	broad.mit.edu	37	13	33628320	33628320	+	Silent	SNP	T	T	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:33628320T>A	ENST00000380099.3	+	2	1244	c.1236T>A	c.(1234-1236)atT>atA	p.I412I	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.I105I	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	412	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAATATTTATTGTGGAAAATG	0.403																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1234-1236)atT>atA		klotho							128.0	134.0	132.0					13																	33628320		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628320T>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1236T>A	13.37:g.33628320T>A						KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.I105I	p.I412I	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1244	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	412			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.1236T>A	CCDS9347.1																																																																																				0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			7	73	0	0	0	1	0	7	73				
HAPLN3	145864	broad.mit.edu	37	15	89430419	89430419	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr15:89430419G>A	ENST00000359595.3	-	2	325	c.111C>T	c.(109-111)aaC>aaT	p.N37N	HAPLN3_ENST00000562889.1_Silent_p.N99N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	37					cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	TGCCATGACCGTTGCCTAGGT	0.607																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(109-111)aaC>aaT		hyaluronan and proteoglycan link protein 3							138.0	125.0	129.0					15																	89430419		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89430419G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.111C>T	15.37:g.89430419G>A						HAPLN3_ENST00000562889.1_Silent_p.N99N	p.N37N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			2	325	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		37					A8K7P0	Silent	SNP	ENST00000359595.3	37	c.111C>T	CCDS10346.1																																																																																				0.607	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		3	59	0	0	0	1	0	3	59				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	110	0	0	0	1	0	6	110				
SMCHD1	23347	broad.mit.edu	37	18	2770030	2770030	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr18:2770030G>T	ENST00000320876.6	+	39	5228	c.4890G>T	c.(4888-4890)aaG>aaT	p.K1630N	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1630					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAAAAGAAAAGGACCAATTAT	0.269																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4888-4890)aaG>aaT		structural maintenance of chromosomes flexible hinge domain containing 1							67.0	63.0	64.0					18																	2770030		1800	4078	5878	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2770030G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4890G>T	18.37:g.2770030G>T	ENSP00000326603:p.Lys1630Asn					RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N	p.K1630N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			39	5228	+			1630					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4890G>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742261	0.49151	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.28069	1.63;1.63	5.76	3.66	0.41972	.	0.092770	0.64402	D	0.000001	T	0.28134	0.0694	L	0.59436	1.845	0.34888	D	0.745268	P	0.46706	0.883	B	0.39706	0.307	T	0.48864	-0.8997	10	0.66056	D	0.02	-13.8935	9.0872	0.36587	0.2938:0.0:0.7062:0.0	.	1630	A6NHR9	SMHD1_HUMAN	N	1630	ENSP00000326603:K1630N;ENSP00000261598:K1630N	ENSP00000261598:K1630N	K	+	3	2	SMCHD1	2760030	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.215000	0.32431	1.436000	0.47453	0.655000	0.94253	AAG		0.269	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			17	34	1	0	3.41278e-10	1	3.63062e-10	17	34				
HMCN1	83872	broad.mit.edu	37	1	185959539	185959539	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:185959539C>A	ENST00000271588.4	+	22	3570	c.3341C>A	c.(3340-3342)gCc>gAc	p.A1114D	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1114	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTACTTGGGCCAAAGAAACC	0.483																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3340-3342)gCc>gAc		hemicentin 1							143.0	130.0	135.0					1																	185959539		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959539C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3341C>A	1.37:g.185959539C>A	ENSP00000271588:p.Ala1114Asp					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D	p.A1114D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			22	3570	+			1114			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3341C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899133	0.91962	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.77358	-1.09;-1.09	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	N	0.12887	0.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80171	-0.1493	10	0.35671	T	0.21	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	498;1114	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	D	1114	ENSP00000271588:A1114D;ENSP00000356462:A1114D	ENSP00000271588:A1114D	A	+	2	0	HMCN1	184226162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.197000	0.77814	2.733000	0.93635	0.655000	0.94253	GCC		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		31	50	1	0	9.78306e-22	1	1.08701e-21	31	50				
TMC7	79905	broad.mit.edu	37	16	19020721	19020721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:19020721G>T	ENST00000304381.5	+	2	425	c.295G>T	c.(295-297)Gag>Tag	p.E99*	TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*|TMC7_ENST00000421369.3_5'UTR|RNU6-1340P_ENST00000384438.1_RNA	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	99					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAACATCTCTGAGAAGCGGAG	0.468																																						ENST00000304381.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(295-297)Gag>Tag		transmembrane channel-like 7							93.0	95.0	94.0					16																	19020721		2197	4300	6497	SO:0001587	stop_gained	79905					integral to membrane		g.chr16:19020721G>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.295G>T	16.37:g.19020721G>T	ENSP00000304710:p.Glu99*					TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*|TMC7_ENST00000421369.3_5'UTR	p.E99*	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN			2	425	+			99					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Nonsense_Mutation	SNP	ENST00000304381.5	37	c.295G>T	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	38	6.772982	0.97829	.	.	ENSG00000170537	ENST00000304381	.	.	.	5.83	5.83	0.93111	.	0.169008	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	15.6163	0.76769	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000304710:E99X	E	+	1	0	TMC7	18928222	0.999000	0.42202	0.980000	0.43619	0.956000	0.61745	3.532000	0.53553	2.756000	0.94617	0.655000	0.94253	GAG		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		4	152	1	0	2.56e-06	1	2.66667e-06	4	152				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	79	0	0	0	1	0	5	79				
ACACA	31	broad.mit.edu	37	17	35605581	35605581	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:35605581G>A	ENST00000394406.2	-	17	2178	c.1988C>T	c.(1987-1989)gCt>gTt	p.A663V	ACACA_ENST00000353139.5_Missense_Mutation_p.A700V|ACACA_ENST00000335166.5_Missense_Mutation_p.A585V|ACACA_ENST00000360679.3_Missense_Mutation_p.A605V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	663					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AAGTGTATGAGCAGGAAGGAC	0.378																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2098-2100)gCt>gTt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						107.0	96.0	100.0					17																	35605581		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35605581G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1988C>T	17.37:g.35605581G>A	ENSP00000377928:p.Ala663Val					ACACA_ENST00000360679.3_Missense_Mutation_p.A605V|ACACA_ENST00000335166.5_Missense_Mutation_p.A585V|ACACA_ENST00000394406.2_Missense_Mutation_p.A663V	p.A700V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			17	2580	-		Breast(25;0.00157)|Ovarian(249;0.15)	663					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2099C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132953	0.77662	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.95377	-3.69;-3.68;-3.69;-3.68	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	L	0.48642	1.525	0.80722	D	1	P;B;B	0.35033	0.481;0.039;0.065	B;B;B	0.41510	0.359;0.017;0.055	D	0.93466	0.6815	10	0.41790	T	0.15	-14.8771	19.0281	0.92941	0.0:0.0:1.0:0.0	.	700;663;605	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	V	700;605;663;687;585	ENSP00000344789:A700V;ENSP00000353898:A605V;ENSP00000377928:A663V;ENSP00000335323:A585V	ENSP00000335323:A585V	A	-	2	0	ACACA	32679694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.537000	0.98070	2.733000	0.93635	0.655000	0.94253	GCT		0.378	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		34	66	0	0	0	1	0	34	66				
BIRC7	79444	broad.mit.edu	37	20	61870925	61870925	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:61870925G>A	ENST00000217169.3	+	6	1079	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|NKAIN4_ENST00000466885.1_5'Flank|BIRC7_ENST00000395306.1_Missense_Mutation_p.V184I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	289					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V289I(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CAGAGCCCCCGTCCGCAGCCG	0.726																																						ENST00000217169.3																			1	Substitution - Missense(1)	p.V289I(1)	ovary(1)	endometrium(1)|kidney(1)|lung(9)|ovary(1)	12						c.(865-867)Gtc>Atc		baculoviral IAP repeat containing 7							39.0	34.0	36.0					20																	61870925		2198	4294	6492	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61870925G>A	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.865G>A	20.37:g.61870925G>A	ENSP00000217169:p.Val289Ile					BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V184I	p.V289I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN			6	1079	+	all_cancers(38;2.72e-09)		289					Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.865G>A	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.302570	0.01353	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.75477	-0.94;-0.94;-0.94	4.89	2.45	0.29901	Zinc finger, RING/FYVE/PHD-type (1);	0.346149	0.20409	N	0.092900	T	0.40171	0.1106	N	0.01618	-0.8	0.28115	N	0.930828	B;B	0.14438	0.01;0.008	B;B	0.13407	0.009;0.004	T	0.37934	-0.9684	10	0.02654	T	1	.	9.1433	0.36917	0.8846:0.0:0.1154:0.0	.	289;271	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	I	271;289;184	ENSP00000345213:V271I;ENSP00000217169:V289I;ENSP00000378717:V184I	ENSP00000217169:V289I	V	+	1	0	BIRC7	61341370	0.860000	0.29831	0.017000	0.16124	0.006000	0.05464	1.667000	0.37471	0.178000	0.19917	0.467000	0.42956	GTC		0.726	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		21	11	0	0	0	1	0	21	11				
TYW3	127253	broad.mit.edu	37	1	75229587	75229589	+	In_Frame_Del	DEL	CTG	CTG	-	rs554797959|rs199716605	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:75229587_75229589delCTG	ENST00000370867.3	+	6	659_661	c.570_572delCTG	c.(568-573)aactgc>aac	p.C191del	TYW3_ENST00000457880.2_In_Frame_Del_p.C158del|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000421739.2_In_Frame_Del_p.C107del|TYW3_ENST00000479111.1_In_Frame_Del_p.C71del	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	191					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GGTTTTACAACTGCCTACAGCAT	0.32																																						ENST00000370867.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						c.(568-573)aac>aa		tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	127253				tRNA processing		methyltransferase activity	g.chr1:75229587_75229589delCTG	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.570_572delCTG	1.37:g.75229587_75229589delCTG	ENSP00000359904:p.Cys191del					TYW3_ENST00000457880.2_In_Frame_Del_p.NC157del|TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000421739.2_In_Frame_Del_p.NC106del	p.NC190del	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN			6	659_661	+			190					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	In_Frame_Del	DEL	ENST00000370867.3	37	c.570_572delCTG	CCDS666.1																																																																																				0.320	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		24	36						24	36	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177917008	177917008	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:177917008delC	ENST00000308284.6	-	13	1704	c.1615delG	c.(1615-1617)gacfs	p.D539fs	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Frame_Shift_Del_p.D540fs	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	539					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGCTCTGGGTCCCCAGCCTGA	0.547																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1615-1617)acfs		SEC16 homolog B (S. cerevisiae)							40.0	45.0	44.0					1																	177917008		2005	4150	6155	SO:0001589	frameshift_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177917008delC	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1615delG	1.37:g.177917008delC	ENSP00000308339:p.Asp539fs					RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Frame_Shift_Del_p.D540fs|RP4-798P15.3_ENST00000528461.1_3'UTR	p.D539fs	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			13	1704	-			539					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Frame_Shift_Del	DEL	ENST00000308284.6	37	c.1615delG	CCDS44281.1																																																																																				0.547	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		2	4						2	4	---	---	---	---
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824711	+	lincRNA	DEL	TT	TT	-	rs57565986	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr3:106824710_106824711delTT	ENST00000484698.1	-	0	295									long intergenic non-protein coding RNA 882																		tttttatatctttttttttttt	0.45																																						ENST00000484698.1																			0																																																			0							g.chr3:106824710_106824711delTT			3q13.12	2014-06-03			ENSG00000242759	ENSG00000242759		"""Long non-coding RNAs"""	48568	non-coding RNA	RNA, long non-coding						24886442	Standard	NR_028303		Approved				OTTHUMG00000159196		3.37:g.106824720_106824721delTT														0	295	-									RNA	DEL	ENST00000484698.1	37																																																																																						0.450	LINC00882-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353788.1			4	4						4	4	---	---	---	---
KLRAP1	10748	broad.mit.edu	37	12	10750854	10750858	+	RNA	DEL	GATTT	GATTT	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:10750854_10750858delGATTT	ENST00000510134.2	-	0	148									killer cell lectin-like receptor subfamily A pseudogene 1											breast(1)|large_intestine(1)|lung(1)	3						AACACACCAGGATTTGATGCTGAGA	0.361																																						ENST00000510134.2																			0				breast(1)|large_intestine(1)|lung(1)	3																																														0							g.chr12:10750854_10750858delGATTT	AF047445		12p13.2	2012-01-16	2010-10-28	2010-10-28	ENSG00000256667	ENSG00000256667		"""Killer cell lectin-like receptors"""	6372	pseudogene	pseudogene		604274	"""killer cell lectin-like receptor subfamily A, member 1"""	KLRA1		9645365	Standard	NR_028045		Approved	Ly49, LY49L	uc009zho.3		OTTHUMG00000160127		12.37:g.10750854_10750858delGATTT														0	148	-									RNA	DEL	ENST00000510134.2	37																																																																																						0.361	KLRAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359305.2	NR_028045		7	8						7	8	---	---	---	---
KERA	11081	broad.mit.edu	37	12	91449367	91449367	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:91449367delT	ENST00000266719.3	-	2	939	c.692delA	c.(691-693)aatfs	p.N231fs		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	231					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATTAAAATAATTTTCTGGTAT	0.373																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(691-693)atfs		keratocan							104.0	104.0	104.0					12																	91449367		2203	4299	6502	SO:0001589	frameshift_variant	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449367delT	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.692delA	12.37:g.91449367delT	ENSP00000266719:p.Asn231fs						p.N231fs	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	939	-			231						Frame_Shift_Del	DEL	ENST00000266719.3	37	c.692delA	CCDS9037.1																																																																																				0.373	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		7	108						7	108	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-	rs369941794		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:52857402delA	ENST00000451298.1	-	0	303																											ACTTAACGTCAAAAAAAATGT	0.289																																						ENST00000451298.1																			0																																																			0							g.chr13:52857402delA																													13.37:g.52857402delA						RP11-64P12.8_ENST00000606031.1_RNA								0	303	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.289	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			2	4						2	4	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs374912343|rs371270332|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTTTT	0.415																																						ENST00000390441.2																			0																																																			0							g.chr14:22409533_22409539delCTCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409539delCTCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.415	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		3	3						3	3	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81150913	81150917	+	RNA	DEL	AACGG	AACGG	-	rs540056969	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:81150913_81150917delAACGG	ENST00000534142.1	-	0	1161				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGGCCTCAAACGGAGCTGTAGGA	0.595																																						ENST00000534142.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81150913_81150917delAACGG	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81150913_81150917delAACGG						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA				Q7Z442	PK1L2_HUMAN			0	1161	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000534142.1	37																																																																																						0.595	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			7	6						7	6	---	---	---	---
TFAP2C	7022	broad.mit.edu	37	20	55208584	55208594	+	Frame_Shift_Del	DEL	TGAATGCTTAA	TGAATGCTTAA	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:55208584_55208594delTGAATGCTTAA	ENST00000201031.2	+	4	1005_1015	c.762_772delTGAATGCTTAA	c.(760-774)cctgaatgcttaaatfs	p.ECLN255fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.ECLN86fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	255					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TGTCCCCACCTGAATGCTTAAATGCCTCGTT	0.512																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(760-774)ccatfs		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)																																				SO:0001589	frameshift_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55208584_55208594delTGAATGCTTAA		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.762_772delTGAATGCTTAA	20.37:g.55208584_55208594delTGAATGCTTAA	ENSP00000201031:p.Glu255fs					TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.PECLN85fs	p.PECLN254fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		4	1005_1015	+			254					B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Frame_Shift_Del	DEL	ENST00000201031.2	37	c.762_772delTGAATGCTTAA	CCDS13454.1																																																																																				0.512	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		12	62						12	62	---	---	---	---
