#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AIM1L	55057	genome.wustl.edu	37	1	26658066	26658067	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr1:26658066_26658067insA	ENST00000308182.5	-	14	1521_1522	c.1092_1093insT	c.(1090-1095)cacattfs	p.I365fs	AIM1L_ENST00000527815.1_Frame_Shift_Ins_p.I536fs			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	365	Beta/gamma crystallin 'Greek key' 8. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCAGAGAGAATGTGCTGGTCAC	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1092_1093insT	1.37:g.26658066_26658067insA	ENSP00000310435:p.Ile365fs		B2RNG3|Q5T137|Q5T150	Frame_Shift_Ins	INS	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.I535fs	ENST00000308182.5	37	c.1606_1605		1																																																																																			AIM1L	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000176092		0.579	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		37	0.00	0	-	NM_001039775.2		26658066	26658067	-1	no_errors	ENST00000527815	ensembl	human	known	69_37n	frame_shift_ins	49	72.47	129	INS	0.994:0.993	A
AIM1L	55057	genome.wustl.edu	37	1	26658066	26658067	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr1:26658066_26658067insA	ENST00000308182.5	-	14	1521_1522	c.1092_1093insT	c.(1090-1095)cacattfs	p.I365fs	AIM1L_ENST00000527815.1_Frame_Shift_Ins_p.I536fs			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	365	Beta/gamma crystallin 'Greek key' 8. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCAGAGAGAATGTGCTGGTCAC	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1092_1093insT	1.37:g.26658066_26658067insA	ENSP00000310435:p.Ile365fs		B2RNG3|Q5T137|Q5T150	Frame_Shift_Ins	INS	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.I535fs	ENST00000308182.5	37	c.1606_1605		1																																																																																			AIM1L	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000176092		0.579	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		35	0.00	0	-	NM_001039775.2		26658066	26658067	-1	no_errors	ENST00000527815	ensembl	human	known	69_37n	frame_shift_ins	49	72.47	129	INS	0.994:0.993	A
ANXA13	312	genome.wustl.edu	37	8	124693590	124693590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr8:124693590G>A	ENST00000419625.1	-	11	913	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ANXA13_ENST00000262219.6_Nonsense_Mutation_p.Q322*	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	281					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGATCCCCTGAAGGTCCACC	0.448																																						dbGAP											0													148.0	157.0	154.0					8																	124693590		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.841C>T	8.37:g.124693590G>A	ENSP00000390809:p.Gln281*		Q9BQR5	Nonsense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.Q322*	ENST00000419625.1	37	c.964	CCDS47917.1	8	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826985	0.50739	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	.	.	.	5.81	5.81	0.92471	.	0.539864	0.21754	N	0.069629	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	.	.	.	X	322;281	.	ENSP00000262219:Q322X	Q	-	1	0	ANXA13	124762771	0.659000	0.27411	0.874000	0.34290	0.029000	0.11900	3.507000	0.53371	2.746000	0.94184	0.655000	0.94253	CAG	ANXA13	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat	ENSG00000104537		0.448	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	248	0.00	0	G	NM_004306		124693590	124693590	-1	no_errors	ENST00000262219	ensembl	human	known	69_37n	nonsense	431	25.82	150	SNP	0.471	A
ANXA13	312	genome.wustl.edu	37	8	124693590	124693590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr8:124693590G>A	ENST00000419625.1	-	11	913	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ANXA13_ENST00000262219.6_Nonsense_Mutation_p.Q322*	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	281					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGATCCCCTGAAGGTCCACC	0.448																																						dbGAP											0													148.0	157.0	154.0					8																	124693590		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.841C>T	8.37:g.124693590G>A	ENSP00000390809:p.Gln281*		Q9BQR5	Nonsense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.Q322*	ENST00000419625.1	37	c.964	CCDS47917.1	8	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826985	0.50739	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	.	.	.	5.81	5.81	0.92471	.	0.539864	0.21754	N	0.069629	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	.	.	.	X	322;281	.	ENSP00000262219:Q322X	Q	-	1	0	ANXA13	124762771	0.659000	0.27411	0.874000	0.34290	0.029000	0.11900	3.507000	0.53371	2.746000	0.94184	0.655000	0.94253	CAG	ANXA13	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat	ENSG00000104537		0.448	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	260	0.00	0	G	NM_004306		124693590	124693590	-1	no_errors	ENST00000262219	ensembl	human	known	69_37n	nonsense	431	25.82	150	SNP	0.471	A
BTNL3	10917	genome.wustl.edu	37	5	180420116	180420116	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr5:180420116C>A	ENST00000342868.6	+	2	537	c.353C>A	c.(352-354)tCc>tAc	p.S118Y		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	118						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TGGTTCAGTTCCCAGATTTAC	0.502																																						dbGAP											0													61.0	56.0	58.0					5																	180420116		1903	3783	5686	-	-	-	SO:0001583	missense	0			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.353C>A	5.37:g.180420116C>A	ENSP00000341787:p.Ser118Tyr		Q496L7|Q9Y2C7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.S118Y	ENST00000342868.6	37	c.353	CCDS47358.1	5	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806131	0.31961	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.02787	4.16	2.59	-0.781	0.10965	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12689	0.0308	M	0.86953	2.85	0.09310	N	1	D	0.65815	0.995	D	0.75484	0.986	T	0.08289	-1.0729	9	0.72032	D	0.01	.	4.0482	0.09783	0.4022:0.4641:0.0:0.1337	.	118	Q6UXE8	BTNL3_HUMAN	Y	118	ENSP00000341787:S118Y	ENSP00000341787:S118Y	S	+	2	0	BTNL3	180352722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.568000	0.23623	-0.061000	0.13110	-0.441000	0.05720	TCC	BTNL3	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000168903		0.502	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	43	0.00	0	C	NM_197975		180420116	180420116	+1	no_errors	ENST00000342868	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	0.000	A
BTNL3	10917	genome.wustl.edu	37	5	180420116	180420116	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr5:180420116C>A	ENST00000342868.6	+	2	537	c.353C>A	c.(352-354)tCc>tAc	p.S118Y		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	118						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TGGTTCAGTTCCCAGATTTAC	0.502																																						dbGAP											0													61.0	56.0	58.0					5																	180420116		1903	3783	5686	-	-	-	SO:0001583	missense	0			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.353C>A	5.37:g.180420116C>A	ENSP00000341787:p.Ser118Tyr		Q496L7|Q9Y2C7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.S118Y	ENST00000342868.6	37	c.353	CCDS47358.1	5	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806131	0.31961	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.02787	4.16	2.59	-0.781	0.10965	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12689	0.0308	M	0.86953	2.85	0.09310	N	1	D	0.65815	0.995	D	0.75484	0.986	T	0.08289	-1.0729	9	0.72032	D	0.01	.	4.0482	0.09783	0.4022:0.4641:0.0:0.1337	.	118	Q6UXE8	BTNL3_HUMAN	Y	118	ENSP00000341787:S118Y	ENSP00000341787:S118Y	S	+	2	0	BTNL3	180352722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.568000	0.23623	-0.061000	0.13110	-0.441000	0.05720	TCC	BTNL3	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000168903		0.502	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	44	0.00	0	C	NM_197975		180420116	180420116	+1	no_errors	ENST00000342868	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	0.000	A
CBLN1	869	genome.wustl.edu	37	16	49315311	49315312	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr16:49315311_49315312insA	ENST00000219197.6	-	1	430_431	c.65_66insT	c.(64-66)cagfs	p.Q22fs	CBLN1_ENST00000536749.1_Frame_Shift_Ins_p.Q22fs	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	22					cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CCGTCTCATTCTGCCCGCGGGC	0.748																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.65_66insT	16.37:g.49315311_49315312insA	ENSP00000219197:p.Gln22fs		B2RAN9|P02682|Q52M09	Frame_Shift_Ins	INS	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.Q22fs	ENST00000219197.6	37	c.66_65	CCDS10736.1	16																																																																																			CBLN1	-	NULL	ENSG00000102924		0.748	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4	12	0.00	0	-	NM_004352		49315311	49315312	-1	no_errors	ENST00000219197	ensembl	human	known	69_37n	frame_shift_ins	9	55.00	11	INS	1.000:1.000	A
CCDC74A	90557	genome.wustl.edu	37	2	132289349	132289349	+	Silent	SNP	A	A	G	rs147297526	byFrequency	TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr2:132289349A>G	ENST00000295171.6	+	4	795	c.657A>G	c.(655-657)aaA>aaG	p.K219K	CCDC74A_ENST00000409856.3_Silent_p.K153K|CCDC74A_ENST00000467992.2_Silent_p.K321K	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	219										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTGGACAAAGTTCCTGGGG	0.587													N|||	815	0.16274	0.0393	0.1326	5008	,	,		12824	0.505		0.0815	False		,,,				2504	0.0818					dbGAP											0													101.0	110.0	107.0					2																	132289349		2071	4188	6259	-	-	-	SO:0001819	synonymous_variant	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.657A>G	2.37:g.132289349A>G			Q6P4I5	Silent	SNP	NULL	p.K219	ENST00000295171.6	37	c.657	CCDS2167.1	2																																																																																			CCDC74A	-	NULL	ENSG00000163040		0.587	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	35	0.00	0	A	NM_138770		132289349	132289349	+1	no_errors	ENST00000295171	ensembl	human	known	69_37n	silent	41	10.87	5	SNP	0.017	G
CDH24	64403	genome.wustl.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr14:23523784_23523785insC	ENST00000267383.5	-	4	806_807	c.714_715insG	c.(712-717)gggctgfs	p.L239fs	CDH24_ENST00000554034.1_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000397359.3_Frame_Shift_Ins_p.L239fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.715dupG	14.37:g.23523791_23523791dupC	ENSP00000267383:p.Leu239fs	764	D3DS44|Q86UP1|Q9NT84	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L238fs	ENST00000267383.5	37	c.715_714	CCDS9585.1	14																																																																																			CDH24	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000139880		0.609	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	22	0.00	0	-	NM_022478		23523784	23523785	-1	no_errors	ENST00000267383	ensembl	human	known	69_37n	frame_shift_ins	46	11.54	6	INS	1.000:1.000	C
CDK14	5218	genome.wustl.edu	37	7	90233551	90233551	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr7:90233551C>T	ENST00000380050.3	+	2	242	c.111C>T	c.(109-111)acC>acT	p.T37T	snoU13_ENST00000459044.1_RNA			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	37					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGATGACACCACCTTTGATG	0.308																																					GBM(83;1228 1256 8311 16577 31299)	dbGAP											0													16.0	18.0	18.0					7																	90233551		875	1987	2862	-	-	-	SO:0001819	synonymous_variant	0				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.111C>T	7.37:g.90233551C>T			A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T37	ENST00000380050.3	37	c.111		7																																																																																			CDK14	-	NULL	ENSG00000058091		0.308	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	25	0.00	0	C	NM_012395		90233551	90233551	+1	no_errors	ENST00000380050	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	1.000	T
COX10-AS1	100874058	genome.wustl.edu	37	17	13928289	13928289	+	RNA	SNP	G	G	A	rs201483912	byFrequency	TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr17:13928289G>A	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		CGGAGCCAGAGCCAGCATGGG	0.592																																						dbGAP											0																																										-	-	-			0					17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13928289G>A				RNA	SNP	-	NULL	ENST00000602743.1	37	NULL		17																																																																																			CDRT15P1	-	-	ENSG00000141028		0.592	COX10-AS1-005	KNOWN	basic	antisense	CDRT15P1	HGNC	processed_transcript	OTTHUMT00000467585.1	18	0.00	0	G			13928289	13928289	+1	no_errors	ENST00000268714	ensembl	human	known	69_37n	rna	17	32.00	8	SNP	0.004	A
CLN3	1201	genome.wustl.edu	37	16	28498857	28498858	+	Frame_Shift_Ins	INS	-	-	G	rs386833717|rs201168980|rs386833718		TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr16:28498857_28498858insG	ENST00000569430.1	-	8	1198_1199	c.379_380insC	c.(379-381)cggfs	p.R127fs	CLN3_ENST00000360019.2_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000357076.5_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000565316.1_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000568224.1_Frame_Shift_Ins_p.R49fs|CLN3_ENST00000535392.1_Frame_Shift_Ins_p.R49fs|CLN3_ENST00000359984.7_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000357857.9_Frame_Shift_Ins_p.R73fs|CLN3_ENST00000357806.7_Frame_Shift_Ins_p.P100fs|CLN3_ENST00000567963.1_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000333496.9_Frame_Shift_Ins_p.R103fs|CLN3_ENST00000354630.5_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000395653.4_Frame_Shift_Ins_p.R27fs|CLN3_ENST00000355477.5_Frame_Shift_Ins_p.R127fs			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	127					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GACGAGAACCCGGGGGCTGAGG	0.594																																						dbGAP											0			GRCh37	CI972579	CLN3	I																																				-	-	-	SO:0001589	frameshift_variant	0			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.380dupC	16.37:g.28498862_28498862dupG	ENSP00000454229:p.Arg127fs		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Frame_Shift_Ins	INS	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	p.R127fs	ENST00000569430.1	37	c.380_379	CCDS10632.1	16																																																																																			CLN3	-	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr	ENSG00000188603		0.594	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	HGNC	protein_coding	OTTHUMT00000214115.2	31	0.00	0	-			28498857	28498858	-1	no_errors	ENST00000359984	ensembl	human	known	69_37n	frame_shift_ins	27	22.86	8	INS	1.000:1.000	G
CLN3	1201	genome.wustl.edu	37	16	28498857	28498858	+	Frame_Shift_Ins	INS	-	-	G	rs386833717|rs201168980|rs386833718		TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr16:28498857_28498858insG	ENST00000569430.1	-	8	1198_1199	c.379_380insC	c.(379-381)cggfs	p.R127fs	CLN3_ENST00000360019.2_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000357076.5_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000565316.1_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000568224.1_Frame_Shift_Ins_p.R49fs|CLN3_ENST00000535392.1_Frame_Shift_Ins_p.R49fs|CLN3_ENST00000359984.7_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000357857.9_Frame_Shift_Ins_p.R73fs|CLN3_ENST00000357806.7_Frame_Shift_Ins_p.P100fs|CLN3_ENST00000567963.1_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000333496.9_Frame_Shift_Ins_p.R103fs|CLN3_ENST00000354630.5_Frame_Shift_Ins_p.R127fs|CLN3_ENST00000395653.4_Frame_Shift_Ins_p.R27fs|CLN3_ENST00000355477.5_Frame_Shift_Ins_p.R127fs			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	127					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GACGAGAACCCGGGGGCTGAGG	0.594																																						dbGAP											0			GRCh37	CI972579	CLN3	I																																				-	-	-	SO:0001589	frameshift_variant	0			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.380dupC	16.37:g.28498862_28498862dupG	ENSP00000454229:p.Arg127fs		B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Frame_Shift_Ins	INS	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	p.R127fs	ENST00000569430.1	37	c.380_379	CCDS10632.1	16																																																																																			CLN3	-	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr	ENSG00000188603		0.594	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	HGNC	protein_coding	OTTHUMT00000214115.2	40	0.00	0	-			28498857	28498858	-1	no_errors	ENST00000359984	ensembl	human	known	69_37n	frame_shift_ins	27	22.86	8	INS	1.000:1.000	G
DEDD2	162989	genome.wustl.edu	37	19	42713899	42713900	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr19:42713899_42713900insGC	ENST00000595337.1	-	4	628_629	c.541_542insGC	c.(541-543)cagfs	p.Q181fs	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Frame_Shift_Ins_p.Q176fs|DEDD2_ENST00000598727.1_Frame_Shift_Ins_p.Q181fs|DEDD2_ENST00000596251.1_Frame_Shift_Ins_p.Q181fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	181					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CTCTGACTGCTGCTGGGGTGCG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.540_541dupGC	19.37:g.42713900_42713901dupGC	ENSP00000470082:p.Gln181fs		Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Frame_Shift_Ins	INS	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.Q181fs	ENST00000595337.1	37	c.542_541	CCDS12597.1	19																																																																																			DEDD2	-	NULL	ENSG00000160570		0.683	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	91	0.00	0	-	NM_133328		42713899	42713900	-1	no_errors	ENST00000336034	ensembl	human	known	69_37n	frame_shift_ins	103	43.41	79	INS	1.000:1.000	GC
DEDD2	162989	genome.wustl.edu	37	19	42713899	42713900	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr19:42713899_42713900insGC	ENST00000595337.1	-	4	628_629	c.541_542insGC	c.(541-543)cagfs	p.Q181fs	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Frame_Shift_Ins_p.Q176fs|DEDD2_ENST00000598727.1_Frame_Shift_Ins_p.Q181fs|DEDD2_ENST00000596251.1_Frame_Shift_Ins_p.Q181fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	181					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CTCTGACTGCTGCTGGGGTGCG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.540_541dupGC	19.37:g.42713900_42713901dupGC	ENSP00000470082:p.Gln181fs		Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Frame_Shift_Ins	INS	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.Q181fs	ENST00000595337.1	37	c.542_541	CCDS12597.1	19																																																																																			DEDD2	-	NULL	ENSG00000160570		0.683	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	50	0.00	0	-	NM_133328		42713899	42713900	-1	no_errors	ENST00000336034	ensembl	human	known	69_37n	frame_shift_ins	103	43.41	79	INS	1.000:1.000	GC
DEDD2	162989	genome.wustl.edu	37	19	42713903	42713903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr19:42713903delG	ENST00000595337.1	-	4	625	c.538delC	c.(538-540)cagfs	p.Q182fs	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.Q177fs|DEDD2_ENST00000598727.1_Frame_Shift_Del_p.Q182fs|DEDD2_ENST00000596251.1_Frame_Shift_Del_p.Q182fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	182					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GACTGCTGCTGGGGTGCGGCT	0.677																																						dbGAP											0													50.0	50.0	50.0					19																	42713903		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.538delC	19.37:g.42713903delG	ENSP00000470082:p.Gln182fs		Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Frame_Shift_Del	DEL	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.Q180fs	ENST00000595337.1	37	c.538	CCDS12597.1	19																																																																																			DEDD2	-	NULL	ENSG00000160570		0.677	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	86	0.00	0	G	NM_133328		42713903	42713903	-1	no_errors	ENST00000336034	ensembl	human	known	69_37n	frame_shift_del	86	46.91	76	DEL	0.998	-
DEDD2	162989	genome.wustl.edu	37	19	42713903	42713903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr19:42713903delG	ENST00000595337.1	-	4	625	c.538delC	c.(538-540)cagfs	p.Q182fs	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.Q177fs|DEDD2_ENST00000598727.1_Frame_Shift_Del_p.Q182fs|DEDD2_ENST00000596251.1_Frame_Shift_Del_p.Q182fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	182					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GACTGCTGCTGGGGTGCGGCT	0.677																																						dbGAP											0													50.0	50.0	50.0					19																	42713903		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.538delC	19.37:g.42713903delG	ENSP00000470082:p.Gln182fs		Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Frame_Shift_Del	DEL	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.Q180fs	ENST00000595337.1	37	c.538	CCDS12597.1	19																																																																																			DEDD2	-	NULL	ENSG00000160570		0.677	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	54	0.00	0	G	NM_133328		42713903	42713903	-1	no_errors	ENST00000336034	ensembl	human	known	69_37n	frame_shift_del	86	46.91	76	DEL	0.998	-
DHX32	55760	genome.wustl.edu	37	10	127530357	127530357	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr10:127530357A>T	ENST00000284690.3	-	7	1988	c.1498T>A	c.(1498-1500)Ttt>Att	p.F500I	DHX32_ENST00000368721.1_Missense_Mutation_p.F124I|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.F419I|AL360176.1_ENST00000401153.1_RNA|BCCIP_ENST00000429863.2_3'UTR|BCCIP_ENST00000299130.3_3'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	500						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACACAGTCAAATTCACAGGAC	0.383																																						dbGAP											0													88.0	81.0	83.0					10																	127530357		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1498T>A	10.37:g.127530357A>T	ENSP00000284690:p.Phe500Ile		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.F500I	ENST00000284690.3	37	c.1498	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	A	32	5.114389	0.94339	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.35236	1.32;1.32;1.32	4.61	4.61	0.57282	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.90542	3.125	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.71928	-0.4444	10	0.87932	D	0	-31.4189	13.8728	0.63629	1.0:0.0:0.0:0.0	.	500	Q7L7V1	DHX32_HUMAN	I	124;500;419	ENSP00000357710:F124I;ENSP00000284690:F500I;ENSP00000284688:F419I	ENSP00000284688:F419I	F	-	1	0	DHX32	127520347	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.868000	0.92320	1.944000	0.56390	0.533000	0.62120	TTT	DHX32	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom	ENSG00000089876		0.383	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	63	0.00	0	A	NM_018180		127530357	127530357	-1	no_errors	ENST00000284690	ensembl	human	known	69_37n	missense	65	39.81	43	SNP	1.000	T
DHX32	55760	genome.wustl.edu	37	10	127530357	127530357	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr10:127530357A>T	ENST00000284690.3	-	7	1988	c.1498T>A	c.(1498-1500)Ttt>Att	p.F500I	DHX32_ENST00000368721.1_Missense_Mutation_p.F124I|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.F419I|AL360176.1_ENST00000401153.1_RNA|BCCIP_ENST00000429863.2_3'UTR|BCCIP_ENST00000299130.3_3'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	500						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACACAGTCAAATTCACAGGAC	0.383																																						dbGAP											0													88.0	81.0	83.0					10																	127530357		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1498T>A	10.37:g.127530357A>T	ENSP00000284690:p.Phe500Ile		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.F500I	ENST00000284690.3	37	c.1498	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	A	32	5.114389	0.94339	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.35236	1.32;1.32;1.32	4.61	4.61	0.57282	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.90542	3.125	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.71928	-0.4444	10	0.87932	D	0	-31.4189	13.8728	0.63629	1.0:0.0:0.0:0.0	.	500	Q7L7V1	DHX32_HUMAN	I	124;500;419	ENSP00000357710:F124I;ENSP00000284690:F500I;ENSP00000284688:F419I	ENSP00000284688:F419I	F	-	1	0	DHX32	127520347	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.868000	0.92320	1.944000	0.56390	0.533000	0.62120	TTT	DHX32	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom	ENSG00000089876		0.383	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	81	0.00	0	A	NM_018180		127530357	127530357	-1	no_errors	ENST00000284690	ensembl	human	known	69_37n	missense	65	39.81	43	SNP	1.000	T
EPN1	29924	genome.wustl.edu	37	19	56203361	56203361	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr19:56203361G>A	ENST00000270460.6	+	7	1315	c.1004G>A	c.(1003-1005)gGt>gAt	p.G335D	EPN1_ENST00000085079.7_Missense_Mutation_p.G310D|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Missense_Mutation_p.G421D	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	335	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GACCCTTGGGGTGGGACCCCA	0.701																																						dbGAP											0													4.0	5.0	5.0					19																	56203361		1698	3783	5481	-	-	-	SO:0001583	missense	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1004G>A	19.37:g.56203361G>A	ENSP00000270460:p.Gly335Asp		Q86ST3|Q9HA18	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.G421D	ENST00000270460.6	37	c.1262	CCDS46199.1	19	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753320	0.69648	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.16897	2.4;2.33;2.31	3.58	3.58	0.41010	.	0.000000	0.64402	D	0.000001	T	0.38878	0.1057	M	0.72894	2.215	0.46167	D	0.998905	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.17776	-1.0358	10	0.33141	T	0.24	-11.333	14.5067	0.67758	0.0:0.0:1.0:0.0	.	296;421;335;310	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	D	335;310;296;421	ENSP00000270460:G335D;ENSP00000085079:G310D;ENSP00000406209:G421D	ENSP00000085079:G310D	G	+	2	0	EPN1	60895173	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.483000	0.66838	2.030000	0.59900	0.462000	0.41574	GGT	EPN1	-	NULL	ENSG00000063245		0.701	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	10	0.00	0	G	NM_013333		56203361	56203361	+1	no_errors	ENST00000411543	ensembl	human	known	69_37n	missense	7	56.25	9	SNP	1.000	A
ESX1	80712	genome.wustl.edu	37	X	103494943	103494944	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chrX:103494943_103494944insT	ENST00000372588.4	-	4	1269_1270	c.1186_1187insA	c.(1186-1188)gtcfs	p.V396fs		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	396					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACTGTTGATGACAGGGGCCCAT	0.52																																					Pancreas(200;1705 2227 25194 28471 45274)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1186_1187insA	X.37:g.103494943_103494944insT	ENSP00000361669:p.Val396fs		B0QYU3|Q7Z6K7	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain	p.V396fs	ENST00000372588.4	37	c.1187_1186	CCDS14516.1	X																																																																																			ESX1	-	NULL	ENSG00000123576		0.520	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2	59	0.00	0	-	NM_153448		103494943	103494944	-1	no_errors	ENST00000372588	ensembl	human	known	69_37n	frame_shift_ins	46	11.54	6	INS	0.004:0.104	T
FAM217B	63939	genome.wustl.edu	37	20	58520079	58520079	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr20:58520079C>T	ENST00000358293.3	+	5	1496	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	FAM217B_ENST00000360816.3_Missense_Mutation_p.H361Y	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	361																	GAGCTGTGGTCATGCCACTGT	0.413																																						dbGAP											0													60.0	61.0	61.0					20																	58520079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1081C>T	20.37:g.58520079C>T	ENSP00000351040:p.His361Tyr		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.H361Y	ENST00000358293.3	37	c.1081	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	C	3.771	-0.047581	0.07407	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.29655	1.56;1.56	5.35	2.22	0.28083	.	1.364500	0.04888	N	0.448950	T	0.14874	0.0359	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25012	-1.0144	10	0.02654	T	1	-0.0645	3.4518	0.07501	0.1369:0.5805:0.1328:0.1499	.	361	Q9NTX9	CT177_HUMAN	Y	361	ENSP00000351040:H361Y;ENSP00000354056:H361Y	ENSP00000351040:H361Y	H	+	1	0	C20orf177	57953474	0.000000	0.05858	0.000000	0.03702	0.539000	0.34962	0.886000	0.28241	0.576000	0.29452	0.591000	0.81541	CAT	FAM217B	-	NULL	ENSG00000196227		0.413	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	111	0.00	0	C	NM_022106		58520079	58520079	+1	no_errors	ENST00000358293	ensembl	human	known	69_37n	missense	219	11.34	28	SNP	0.000	T
FAM217B	63939	genome.wustl.edu	37	20	58520079	58520079	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr20:58520079C>T	ENST00000358293.3	+	5	1496	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	FAM217B_ENST00000360816.3_Missense_Mutation_p.H361Y	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	361																	GAGCTGTGGTCATGCCACTGT	0.413																																						dbGAP											0													60.0	61.0	61.0					20																	58520079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1081C>T	20.37:g.58520079C>T	ENSP00000351040:p.His361Tyr		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.H361Y	ENST00000358293.3	37	c.1081	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	C	3.771	-0.047581	0.07407	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.29655	1.56;1.56	5.35	2.22	0.28083	.	1.364500	0.04888	N	0.448950	T	0.14874	0.0359	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25012	-1.0144	10	0.02654	T	1	-0.0645	3.4518	0.07501	0.1369:0.5805:0.1328:0.1499	.	361	Q9NTX9	CT177_HUMAN	Y	361	ENSP00000351040:H361Y;ENSP00000354056:H361Y	ENSP00000351040:H361Y	H	+	1	0	C20orf177	57953474	0.000000	0.05858	0.000000	0.03702	0.539000	0.34962	0.886000	0.28241	0.576000	0.29452	0.591000	0.81541	CAT	FAM217B	-	NULL	ENSG00000196227		0.413	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	116	0.00	0	C	NM_022106		58520079	58520079	+1	no_errors	ENST00000358293	ensembl	human	known	69_37n	missense	219	11.34	28	SNP	0.000	T
FNDC1	84624	genome.wustl.edu	37	6	159670105	159670105	+	Silent	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr6:159670105C>A	ENST00000297267.9	+	16	4925	c.4725C>A	c.(4723-4725)acC>acA	p.T1575T	FNDC1_ENST00000340366.6_Silent_p.T1512T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1575					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACCAACCACCACTGAGCCTT	0.483																																						dbGAP											0													46.0	51.0	49.0					6																	159670105		2000	4158	6158	-	-	-	SO:0001819	synonymous_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4725C>A	6.37:g.159670105C>A			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.H1471N	ENST00000297267.9	37	c.4411	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	1.811	-0.474684	0.04414	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.04	3.1	0.35709	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34825	-0.9813	4	.	.	.	-12.1116	5.4088	0.16336	0.1668:0.6435:0.0:0.1896	.	.	.	.	N	1471	.	.	H	+	1	0	FNDC1	159590095	0.332000	0.24722	0.857000	0.33713	0.149000	0.21700	0.472000	0.22116	1.346000	0.45694	0.650000	0.86243	CAC	FNDC1	-	NULL	ENSG00000164694		0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	26	0.00	0	C	NM_032532		159670105	159670105	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000329629	ensembl	human	novel	69_37n	missense	7	69.57	16	SNP	0.985	A
FNDC1	84624	genome.wustl.edu	37	6	159670105	159670105	+	Silent	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr6:159670105C>A	ENST00000297267.9	+	16	4925	c.4725C>A	c.(4723-4725)acC>acA	p.T1575T	FNDC1_ENST00000340366.6_Silent_p.T1512T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1575					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACCAACCACCACTGAGCCTT	0.483																																						dbGAP											0													46.0	51.0	49.0					6																	159670105		2000	4158	6158	-	-	-	SO:0001819	synonymous_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4725C>A	6.37:g.159670105C>A			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.H1471N	ENST00000297267.9	37	c.4411	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	1.811	-0.474684	0.04414	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.04	3.1	0.35709	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34825	-0.9813	4	.	.	.	-12.1116	5.4088	0.16336	0.1668:0.6435:0.0:0.1896	.	.	.	.	N	1471	.	.	H	+	1	0	FNDC1	159590095	0.332000	0.24722	0.857000	0.33713	0.149000	0.21700	0.472000	0.22116	1.346000	0.45694	0.650000	0.86243	CAC	FNDC1	-	NULL	ENSG00000164694		0.483	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	28	0.00	0	C	NM_032532		159670105	159670105	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000329629	ensembl	human	novel	69_37n	missense	7	69.57	16	SNP	0.985	A
PLIN4	729359	genome.wustl.edu	37	19	4499592	4499594	+	IGR	DEL	AGT	AGT	-	rs574022188		TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	AGT	AGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr19:4499592_4499594delAGT	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000586684.1_In_Frame_Del_p.V561del|HDGFRP2_ENST00000301284.4_In_Frame_Del_p.V561del	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						cggtgcagaaagtgaacaaggct	0.631																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499592_4499594delAGT			A6NEI2	In_Frame_Del	DEL	pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP	p.V561in_frame_del	ENST00000301286.3	37	c.1680_1682	CCDS45927.1	19																																																																																			CTB-50L17.10	-	pfam_LEDGF	ENSG00000167674		0.631	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	HDGFRP2	Clone_based_vega_gene	protein_coding	OTTHUMT00000395095.1	15	0.00	0	AGT	XM_170901		4499592	4499594	+1	no_errors	ENST00000301284	ensembl	human	known	69_37n	in_frame_del	10	44.44	8	DEL	0.727:0.733:0.021	-
HNRNPD	3184	genome.wustl.edu	37	4	83277695	83277695	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr4:83277695T>C	ENST00000313899.7	-	7	1272	c.995A>G	c.(994-996)tAt>tGt	p.Y332C	HNRNPD_ENST00000352301.4_Missense_Mutation_p.Y313C|HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000543098.1_Missense_Mutation_p.Y280C|HNRNPD_ENST00000541060.1_Missense_Mutation_p.Y178C|HNRNPD_ENST00000508119.1_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	332	Gly-rich.|Tyr-rich.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CTTACTGCTATAATCACCATA	0.358																																						dbGAP											0													116.0	110.0	112.0					4																	83277695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.995A>G	4.37:g.83277695T>C	ENSP00000313199:p.Tyr332Cys		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom	p.Y332C	ENST00000313899.7	37	c.995	CCDS3592.1	4	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616724	0.66672	.	.	ENSG00000138668	ENST00000313899;ENST00000352301;ENST00000543098;ENST00000541060	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	6.07	6.07	0.98685	.	0.109437	0.64402	D	0.000004	D	0.95730	0.8611	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.65874	0.939;0.926	D	0.95602	0.8664	10	0.46703	T	0.11	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	313;332	Q14103-2;Q14103	.;HNRPD_HUMAN	C	332;313;280;178	ENSP00000313199:Y332C;ENSP00000305860:Y313C;ENSP00000439380:Y280C;ENSP00000437416:Y178C	ENSP00000313199:Y332C	Y	-	2	0	HNRNPD	83496719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	TAT	HNRNPD	-	NULL	ENSG00000138668		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	HGNC	protein_coding	OTTHUMT00000252630.2	163	0.00	0	T	NM_031370		83277695	83277695	-1	no_errors	ENST00000313899	ensembl	human	known	69_37n	missense	46	71.78	117	SNP	1.000	C
HNRNPD	3184	genome.wustl.edu	37	4	83277695	83277695	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr4:83277695T>C	ENST00000313899.7	-	7	1272	c.995A>G	c.(994-996)tAt>tGt	p.Y332C	HNRNPD_ENST00000352301.4_Missense_Mutation_p.Y313C|HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000543098.1_Missense_Mutation_p.Y280C|HNRNPD_ENST00000541060.1_Missense_Mutation_p.Y178C|HNRNPD_ENST00000508119.1_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	332	Gly-rich.|Tyr-rich.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CTTACTGCTATAATCACCATA	0.358																																						dbGAP											0													116.0	110.0	112.0					4																	83277695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.995A>G	4.37:g.83277695T>C	ENSP00000313199:p.Tyr332Cys		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom	p.Y332C	ENST00000313899.7	37	c.995	CCDS3592.1	4	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616724	0.66672	.	.	ENSG00000138668	ENST00000313899;ENST00000352301;ENST00000543098;ENST00000541060	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	6.07	6.07	0.98685	.	0.109437	0.64402	D	0.000004	D	0.95730	0.8611	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.65874	0.939;0.926	D	0.95602	0.8664	10	0.46703	T	0.11	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	313;332	Q14103-2;Q14103	.;HNRPD_HUMAN	C	332;313;280;178	ENSP00000313199:Y332C;ENSP00000305860:Y313C;ENSP00000439380:Y280C;ENSP00000437416:Y178C	ENSP00000313199:Y332C	Y	-	2	0	HNRNPD	83496719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	TAT	HNRNPD	-	NULL	ENSG00000138668		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	HGNC	protein_coding	OTTHUMT00000252630.2	272	0.00	0	T	NM_031370		83277695	83277695	-1	no_errors	ENST00000313899	ensembl	human	known	69_37n	missense	46	71.78	117	SNP	1.000	C
KIAA0195	9772	genome.wustl.edu	37	17	73490997	73490997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr17:73490997delC	ENST00000314256.7	+	20	3004	c.2610delC	c.(2608-2610)ggcfs	p.G870fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.G521fs|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.G880fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	870						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAAAAATGGGCCTGGAGACAG	0.597																																						dbGAP											0													91.0	98.0	96.0					17																	73490997		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2610delC	17.37:g.73490997delC	ENSP00000313885:p.Gly870fs		O75536|Q86XF1	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_cation-transptr_C	p.L871fs	ENST00000314256.7	37	c.2610	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.597	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	36	0.00	0	C	NM_014738		73490997	73490997	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	frame_shift_del	66	45.90	56	DEL	1.000	-
KIAA0195	9772	genome.wustl.edu	37	17	73490997	73490997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr17:73490997delC	ENST00000314256.7	+	20	3004	c.2610delC	c.(2608-2610)ggcfs	p.G870fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.G521fs|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.G880fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	870						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAAAAATGGGCCTGGAGACAG	0.597																																						dbGAP											0													91.0	98.0	96.0					17																	73490997		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2610delC	17.37:g.73490997delC	ENSP00000313885:p.Gly870fs		O75536|Q86XF1	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_cation-transptr_C	p.L871fs	ENST00000314256.7	37	c.2610	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.597	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	48	0.00	0	C	NM_014738		73490997	73490997	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	frame_shift_del	66	45.90	56	DEL	1.000	-
MUC5B	727897	genome.wustl.edu	37	11	1268931	1268931	+	Silent	SNP	A	A	C	rs2334757	byFrequency	TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr11:1268931A>C	ENST00000529681.1	+	31	10879	c.10821A>C	c.(10819-10821)gcA>gcC	p.A3607A	MUC5B_ENST00000447027.1_Silent_p.A3610A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3607	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGAGGGGCAGTCTGTGAGC	0.672													-|||	1447	0.288938	0.2065	0.2565	5008	,	,		10450	0.5159		0.2078	False		,,,				2504	0.273					dbGAP											0													38.0	41.0	40.0					11																	1268931		1863	4019	5882	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10821A>C	11.37:g.1268931A>C			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A3610	ENST00000529681.1	37	c.10830	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	9	0.00	0	A	XM_001126093		1268931	1268931	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	1	80.00	4	SNP	0.000	C
MUC5B	727897	genome.wustl.edu	37	11	1270250	1270250	+	Missense_Mutation	SNP	G	G	T	rs199641655	byFrequency	TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr11:1270250G>T	ENST00000529681.1	+	31	12198	c.12140G>T	c.(12139-12141)gGg>gTg	p.G4047V	MUC5B_ENST00000447027.1_Missense_Mutation_p.G4050V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4047	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTTCCACGGGGACTTCCCAC	0.667																																						dbGAP											0													34.0	44.0	41.0					11																	1270250		1906	4072	5978	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12140G>T	11.37:g.1270250G>T	ENSP00000436812:p.Gly4047Val		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G4050V	ENST00000529681.1	37	c.12149	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	t	3.508	-0.100419	0.06967	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.24908	1.83;2.01	2.18	-1.06	0.10002	.	.	.	.	.	T	0.05273	0.0140	N	0.00170	-1.935	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36939	-0.9727	9	0.87932	D	0	.	5.1442	0.14975	0.0:0.3607:0.3917:0.2476	.	4520;4050	A7Y9J9;E9PBJ0	.;.	V	4047;4050;3991;3897	ENSP00000436812:G4047V;ENSP00000415793:G4050V	ENSP00000343037:G3991V	G	+	2	0	MUC5B	1226826	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-6.304000	0.00071	-0.613000	0.05694	-1.241000	0.01538	GGG	MUC5B	-	NULL	ENSG00000117983		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	12	0.00	0	G	XM_001126093		1270250	1270250	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	5	37.50	3	SNP	0.000	T
MYO10	4651	genome.wustl.edu	37	5	16675085	16675085	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr5:16675085G>C	ENST00000513610.1	-	35	5295	c.4841C>G	c.(4840-4842)aCc>aGc	p.T1614S	MYO10_ENST00000274203.9_Missense_Mutation_p.T971S|MYO10_ENST00000505695.1_Missense_Mutation_p.T953S|MYO10_ENST00000515803.1_Missense_Mutation_p.T953S|MYO10_ENST00000427430.2_Missense_Mutation_p.T971S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1614	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACTTTGTTGGTCTGTTTGAT	0.567																																						dbGAP											0													77.0	77.0	77.0					5																	16675085		2044	4193	6237	-	-	-	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4841C>G	5.37:g.16675085G>C	ENSP00000421280:p.Thr1614Ser		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.T1614S	ENST00000513610.1	37	c.4841	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904029	0.92035	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	5.91	5.91	0.95273	MyTH4 domain (3);	.	.	.	.	D	0.96876	0.8980	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.96700	0.9517	9	0.72032	D	0.01	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	493;1254;1614	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	S	1614;953;971;953;971	ENSP00000421280:T1614S;ENSP00000425051:T953S;ENSP00000274203:T971S;ENSP00000421170:T953S;ENSP00000391106:T971S	ENSP00000274203:T971S	T	-	2	0	MYO10	16728085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	ACC	MYO10	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000145555		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	120	0.00	0	G	NM_012334		16675085	16675085	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	missense	147	13.53	23	SNP	1.000	C
MYO10	4651	genome.wustl.edu	37	5	16675085	16675085	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr5:16675085G>C	ENST00000513610.1	-	35	5295	c.4841C>G	c.(4840-4842)aCc>aGc	p.T1614S	MYO10_ENST00000274203.9_Missense_Mutation_p.T971S|MYO10_ENST00000505695.1_Missense_Mutation_p.T953S|MYO10_ENST00000515803.1_Missense_Mutation_p.T953S|MYO10_ENST00000427430.2_Missense_Mutation_p.T971S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1614	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACTTTGTTGGTCTGTTTGAT	0.567																																						dbGAP											0													77.0	77.0	77.0					5																	16675085		2044	4193	6237	-	-	-	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4841C>G	5.37:g.16675085G>C	ENSP00000421280:p.Thr1614Ser		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.T1614S	ENST00000513610.1	37	c.4841	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904029	0.92035	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	5.91	5.91	0.95273	MyTH4 domain (3);	.	.	.	.	D	0.96876	0.8980	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.96700	0.9517	9	0.72032	D	0.01	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	493;1254;1614	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	S	1614;953;971;953;971	ENSP00000421280:T1614S;ENSP00000425051:T953S;ENSP00000274203:T971S;ENSP00000421170:T953S;ENSP00000391106:T971S	ENSP00000274203:T971S	T	-	2	0	MYO10	16728085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	ACC	MYO10	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000145555		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	129	0.00	0	G	NM_012334		16675085	16675085	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	missense	147	13.53	23	SNP	1.000	C
OR2G6	391211	genome.wustl.edu	37	1	248685620	248685620	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr1:248685620G>T	ENST00000343414.4	+	1	705	c.673G>T	c.(673-675)Gtg>Ttg	p.V225L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACTCAAGCTGTGTTAAGGAT	0.458																																						dbGAP											0													112.0	116.0	115.0					1																	248685620		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.673G>T	1.37:g.248685620G>T	ENSP00000341291:p.Val225Leu		B2RP33	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V225L	ENST00000343414.4	37	c.673	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	5.116	0.206994	0.09704	.	.	ENSG00000188558	ENST00000343414	T	0.00291	8.27	3.68	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.210022	0.23476	U	0.047762	T	0.00210	0.0006	M	0.62266	1.93	0.09310	N	1	B	0.25105	0.118	B	0.25140	0.058	T	0.42447	-0.9451	10	0.87932	D	0	.	4.4658	0.11689	0.4971:0.0:0.5029:0.0	.	225	Q5TZ20	OR2G6_HUMAN	L	225	ENSP00000341291:V225L	ENSP00000341291:V225L	V	+	1	0	OR2G6	246752243	0.000000	0.05858	0.013000	0.15412	0.036000	0.12997	-0.220000	0.09215	0.730000	0.32425	0.400000	0.26472	GTG	OR2G6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188558		0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	305	0.00	0	G	XM_372842		248685620	248685620	+1	no_errors	ENST00000343414	ensembl	human	known	69_37n	missense	289	37.50	174	SNP	0.001	T
OR2G6	391211	genome.wustl.edu	37	1	248685620	248685620	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr1:248685620G>T	ENST00000343414.4	+	1	705	c.673G>T	c.(673-675)Gtg>Ttg	p.V225L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACTCAAGCTGTGTTAAGGAT	0.458																																						dbGAP											0													112.0	116.0	115.0					1																	248685620		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.673G>T	1.37:g.248685620G>T	ENSP00000341291:p.Val225Leu		B2RP33	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V225L	ENST00000343414.4	37	c.673	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	5.116	0.206994	0.09704	.	.	ENSG00000188558	ENST00000343414	T	0.00291	8.27	3.68	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.210022	0.23476	U	0.047762	T	0.00210	0.0006	M	0.62266	1.93	0.09310	N	1	B	0.25105	0.118	B	0.25140	0.058	T	0.42447	-0.9451	10	0.87932	D	0	.	4.4658	0.11689	0.4971:0.0:0.5029:0.0	.	225	Q5TZ20	OR2G6_HUMAN	L	225	ENSP00000341291:V225L	ENSP00000341291:V225L	V	+	1	0	OR2G6	246752243	0.000000	0.05858	0.013000	0.15412	0.036000	0.12997	-0.220000	0.09215	0.730000	0.32425	0.400000	0.26472	GTG	OR2G6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188558		0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	298	0.00	0	G	XM_372842		248685620	248685620	+1	no_errors	ENST00000343414	ensembl	human	known	69_37n	missense	289	37.50	174	SNP	0.001	T
JADE2	23338	genome.wustl.edu	37	5	133896481	133896481	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr5:133896481A>G	ENST00000402835.1	+	6	773	c.518A>G	c.(517-519)gAg>gGg	p.E173G	PHF15_ENST00000282605.4_Missense_Mutation_p.E173G|PHF15_ENST00000395003.1_Missense_Mutation_p.E173G|PHF15_ENST00000361895.2_Missense_Mutation_p.E173G																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCTGGAGGAGCTGGAGACC	0.612																																						dbGAP											0													116.0	93.0	101.0					5																	133896481		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000402835.1:c.518A>G	5.37:g.133896481A>G	ENSP00000384671:p.Glu173Gly			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E189G	ENST00000402835.1	37	c.566		5	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357532	0.61293	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.97	5.97	0.96955	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.85041	2.73	0.58432	D	0.999999	P;D;D;P;D	0.63880	0.947;0.993;0.974;0.934;0.974	D;D;D;P;D	0.67725	0.933;0.953;0.95;0.731;0.95	T	0.72924	-0.4144	10	0.66056	D	0.02	.	15.6316	0.76912	1.0:0.0:0.0:0.0	.	173;173;173;173;189	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	G	173;189;173;173;173;173;173;173	ENSP00000282605:E173G;ENSP00000354425:E173G;ENSP00000384671:E173G;ENSP00000378451:E173G;ENSP00000406189:E173G	ENSP00000282605:E173G	E	+	2	0	PHF15	133924380	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	6.214000	0.72200	2.288000	0.76882	0.533000	0.62120	GAG	PHF15	-	pfam_Enhancer_polycomb-like_N	ENSG00000043143		0.612	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	29	0.00	0	A			133896481	133896481	+1	no_errors	ENST00000448712	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	1.000	G
JADE2	23338	genome.wustl.edu	37	5	133896481	133896481	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr5:133896481A>G	ENST00000402835.1	+	6	773	c.518A>G	c.(517-519)gAg>gGg	p.E173G	PHF15_ENST00000282605.4_Missense_Mutation_p.E173G|PHF15_ENST00000395003.1_Missense_Mutation_p.E173G|PHF15_ENST00000361895.2_Missense_Mutation_p.E173G																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCTGGAGGAGCTGGAGACC	0.612																																						dbGAP											0													116.0	93.0	101.0					5																	133896481		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000402835.1:c.518A>G	5.37:g.133896481A>G	ENSP00000384671:p.Glu173Gly			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E189G	ENST00000402835.1	37	c.566		5	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357532	0.61293	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.97	5.97	0.96955	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.85041	2.73	0.58432	D	0.999999	P;D;D;P;D	0.63880	0.947;0.993;0.974;0.934;0.974	D;D;D;P;D	0.67725	0.933;0.953;0.95;0.731;0.95	T	0.72924	-0.4144	10	0.66056	D	0.02	.	15.6316	0.76912	1.0:0.0:0.0:0.0	.	173;173;173;173;189	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	G	173;189;173;173;173;173;173;173	ENSP00000282605:E173G;ENSP00000354425:E173G;ENSP00000384671:E173G;ENSP00000378451:E173G;ENSP00000406189:E173G	ENSP00000282605:E173G	E	+	2	0	PHF15	133924380	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	6.214000	0.72200	2.288000	0.76882	0.533000	0.62120	GAG	PHF15	-	pfam_Enhancer_polycomb-like_N	ENSG00000043143		0.612	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	15	0.00	0	A			133896481	133896481	+1	no_errors	ENST00000448712	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	1.000	G
PCDHA1	56147	genome.wustl.edu	37	5	140167742	140167742	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr5:140167742C>T	ENST00000504120.2	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R623C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTCCGCGTGGGGCT	0.657																																						dbGAP											0													77.0	81.0	80.0					5																	140167742		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1867C>T	5.37:g.140167742C>T	ENSP00000420840:p.Arg623Cys		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R623C	ENST00000504120.2	37	c.1867	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	9.307	1.054621	0.19907	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.55930	0.49;0.49	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.37955	U	0.001870	T	0.56396	0.1982	M	0.89968	3.075	0.31179	N	0.702308	P;P	0.43231	0.799;0.801	B;B	0.41646	0.226;0.362	T	0.67998	-0.5525	10	0.72032	D	0.01	.	4.9009	0.13773	0.284:0.5993:0.0:0.1167	.	623;623	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	C	623	ENSP00000420840:R623C;ENSP00000367373:R623C	ENSP00000367373:R623C	R	+	1	0	PCDHA1	140147926	0.000000	0.05858	0.997000	0.53966	0.263000	0.26337	-0.158000	0.10070	1.572000	0.49736	0.484000	0.47621	CGC	PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204970		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	19	0.00	0	C	NM_018900		140167742	140167742	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	missense	59	25.32	20	SNP	0.997	T
PCDHA1	56147	genome.wustl.edu	37	5	140167742	140167742	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr5:140167742C>T	ENST00000504120.2	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R623C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTCCGCGTGGGGCT	0.657																																						dbGAP											0													77.0	81.0	80.0					5																	140167742		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1867C>T	5.37:g.140167742C>T	ENSP00000420840:p.Arg623Cys		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R623C	ENST00000504120.2	37	c.1867	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	9.307	1.054621	0.19907	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.55930	0.49;0.49	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.37955	U	0.001870	T	0.56396	0.1982	M	0.89968	3.075	0.31179	N	0.702308	P;P	0.43231	0.799;0.801	B;B	0.41646	0.226;0.362	T	0.67998	-0.5525	10	0.72032	D	0.01	.	4.9009	0.13773	0.284:0.5993:0.0:0.1167	.	623;623	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	C	623	ENSP00000420840:R623C;ENSP00000367373:R623C	ENSP00000367373:R623C	R	+	1	0	PCDHA1	140147926	0.000000	0.05858	0.997000	0.53966	0.263000	0.26337	-0.158000	0.10070	1.572000	0.49736	0.484000	0.47621	CGC	PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204970		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	40	0.00	0	C	NM_018900		140167742	140167742	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	missense	59	25.32	20	SNP	0.997	T
POP5	51367	genome.wustl.edu	37	12	121018957	121018957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr12:121018957C>A	ENST00000357500.4	-	2	159	c.124G>T	c.(124-126)Gga>Tga	p.G42*	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000341039.2_Nonsense_Mutation_p.G42*	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	42					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCGAAAGTTCCGTGCACCCTG	0.682																																						dbGAP											0													41.0	46.0	45.0					12																	121018957		2199	4295	6494	-	-	-	SO:0001587	stop_gained	0			AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.124G>T	12.37:g.121018957C>A	ENSP00000350098:p.Gly42*		A6NL80|Q53FS5|Q9Y2Q6	Nonsense_Mutation	SNP	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	p.G42*	ENST00000357500.4	37	c.124	CCDS9202.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.026191	0.97216	.	.	ENSG00000167272	ENST00000341039;ENST00000357500	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.0171	17.8672	0.88799	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000341791:G42X	G	-	1	0	POP5	119503340	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.778000	0.68940	2.894000	0.99253	0.655000	0.94253	GGA	POP5	-	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	ENSG00000167272		0.682	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP5	HGNC	protein_coding	OTTHUMT00000401993.1	39	0.00	0	C	NM_015918		121018957	121018957	-1	no_errors	ENST00000357500	ensembl	human	known	69_37n	nonsense	41	33.87	21	SNP	1.000	A
POP5	51367	genome.wustl.edu	37	12	121018957	121018957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr12:121018957C>A	ENST00000357500.4	-	2	159	c.124G>T	c.(124-126)Gga>Tga	p.G42*	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000341039.2_Nonsense_Mutation_p.G42*	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	42					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCGAAAGTTCCGTGCACCCTG	0.682																																						dbGAP											0													41.0	46.0	45.0					12																	121018957		2199	4295	6494	-	-	-	SO:0001587	stop_gained	0			AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.124G>T	12.37:g.121018957C>A	ENSP00000350098:p.Gly42*		A6NL80|Q53FS5|Q9Y2Q6	Nonsense_Mutation	SNP	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	p.G42*	ENST00000357500.4	37	c.124	CCDS9202.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.026191	0.97216	.	.	ENSG00000167272	ENST00000341039;ENST00000357500	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.0171	17.8672	0.88799	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000341791:G42X	G	-	1	0	POP5	119503340	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.778000	0.68940	2.894000	0.99253	0.655000	0.94253	GGA	POP5	-	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	ENSG00000167272		0.682	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP5	HGNC	protein_coding	OTTHUMT00000401993.1	49	0.00	0	C	NM_015918		121018957	121018957	-1	no_errors	ENST00000357500	ensembl	human	known	69_37n	nonsense	41	33.87	21	SNP	1.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79324439	79324439	+	Missense_Mutation	SNP	A	A	T	rs12238013	byFrequency	TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr9:79324439A>T	ENST00000376718.3	-	8	2874	c.2751T>A	c.(2749-2751)gaT>gaA	p.D917E	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D558E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	917					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTTCCAGGAATCTACCTTTT	0.398																																						dbGAP											0													230.0	215.0	219.0					9																	79324439		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2751T>A	9.37:g.79324439A>T	ENSP00000365908:p.Asp917Glu		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.D558E	ENST00000376718.3	37	c.1674	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.578|6.578	0.474921|0.474921	0.12521|0.12521	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.40476|.	1.03;1.04|.	5.83|5.83	-2.73|-2.73	0.05950|0.05950	.|.	0.117995|.	0.37955|.	N|.	0.001863|.	T|T	0.25195|0.25195	0.0612|0.0612	L|L	0.27053|0.27053	0.805|0.805	0.41441|0.41441	P|P	0.012071000000000054|0.012071000000000054	B|.	0.28605|.	0.217|.	B|.	0.24541|.	0.054|.	T|T	0.33929|0.33929	-0.9849|-0.9849	9|4	0.35671|.	T|.	0.21|.	-23.2372|-23.2372	3.9591|3.9591	0.09403|0.09403	0.3405:0.1904:0.3791:0.09|0.3405:0.1904:0.3791:0.09	.|.	917|.	Q8WUY3|.	PRUN2_HUMAN|.	E|I	917;558;916|239	ENSP00000365908:D917E;ENSP00000397425:D558E|.	ENSP00000365908:D917E|.	D|F	-|-	3|1	2|0	PRUNE2|PRUNE2	78514259|78514259	0.541000|0.541000	0.26417|0.26417	0.983000|0.983000	0.44433|0.44433	0.344000|0.344000	0.29017|0.29017	-0.311000|-0.311000	0.08124|0.08124	-0.351000|-0.351000	0.08249|0.08249	-0.379000|-0.379000	0.06801|0.06801	GAT|TTC	PRUNE2	-	NULL	ENSG00000106772		0.398	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	226	0.00	0	A	NM_138818		79324439	79324439	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	73	71.60	184	SNP	0.276	T
PRUNE2	158471	genome.wustl.edu	37	9	79324439	79324439	+	Missense_Mutation	SNP	A	A	T	rs12238013	byFrequency	TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr9:79324439A>T	ENST00000376718.3	-	8	2874	c.2751T>A	c.(2749-2751)gaT>gaA	p.D917E	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D558E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	917					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTTCCAGGAATCTACCTTTT	0.398																																						dbGAP											0													230.0	215.0	219.0					9																	79324439		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2751T>A	9.37:g.79324439A>T	ENSP00000365908:p.Asp917Glu		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.D558E	ENST00000376718.3	37	c.1674	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.578|6.578	0.474921|0.474921	0.12521|0.12521	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.40476|.	1.03;1.04|.	5.83|5.83	-2.73|-2.73	0.05950|0.05950	.|.	0.117995|.	0.37955|.	N|.	0.001863|.	T|T	0.25195|0.25195	0.0612|0.0612	L|L	0.27053|0.27053	0.805|0.805	0.41441|0.41441	P|P	0.012071000000000054|0.012071000000000054	B|.	0.28605|.	0.217|.	B|.	0.24541|.	0.054|.	T|T	0.33929|0.33929	-0.9849|-0.9849	9|4	0.35671|.	T|.	0.21|.	-23.2372|-23.2372	3.9591|3.9591	0.09403|0.09403	0.3405:0.1904:0.3791:0.09|0.3405:0.1904:0.3791:0.09	.|.	917|.	Q8WUY3|.	PRUN2_HUMAN|.	E|I	917;558;916|239	ENSP00000365908:D917E;ENSP00000397425:D558E|.	ENSP00000365908:D917E|.	D|F	-|-	3|1	2|0	PRUNE2|PRUNE2	78514259|78514259	0.541000|0.541000	0.26417|0.26417	0.983000|0.983000	0.44433|0.44433	0.344000|0.344000	0.29017|0.29017	-0.311000|-0.311000	0.08124|0.08124	-0.351000|-0.351000	0.08249|0.08249	-0.379000|-0.379000	0.06801|0.06801	GAT|TTC	PRUNE2	-	NULL	ENSG00000106772		0.398	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	382	0.00	0	A	NM_138818		79324439	79324439	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	73	71.60	184	SNP	0.276	T
RHOXF2	84528	genome.wustl.edu	37	X	119293081	119293081	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chrX:119293081C>T	ENST00000371388.3	+	2	430	c.240C>T	c.(238-240)ggC>ggT	p.G80G		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	80					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						AAAAAGATGGCGGCGGCGCCG	0.602																																						dbGAP											0													27.0	32.0	31.0					X																	119293081		2157	4286	6443	-	-	-	SO:0001819	synonymous_variant	0				CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"""Homeoboxes / PRD class"""	30011	protein-coding gene	gene with protein product	"""cancer/testis antigen 107"""	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.240C>T	X.37:g.119293081C>T			Q9BR00	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G80	ENST00000371388.3	37	c.240	CCDS14594.1	X																																																																																			RHOXF2	-	NULL	ENSG00000131721		0.602	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF2	HGNC	protein_coding	OTTHUMT00000411977.1	80	0.00	0	C	NM_032498		119293081	119293081	+1	no_errors	ENST00000371388	ensembl	human	known	69_37n	silent	63	14.67	11	SNP	0.000	T
RHOXF2	84528	genome.wustl.edu	37	X	119293081	119293081	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chrX:119293081C>T	ENST00000371388.3	+	2	430	c.240C>T	c.(238-240)ggC>ggT	p.G80G		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	80					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						AAAAAGATGGCGGCGGCGCCG	0.602																																						dbGAP											0													27.0	32.0	31.0					X																	119293081		2157	4286	6443	-	-	-	SO:0001819	synonymous_variant	0				CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"""Homeoboxes / PRD class"""	30011	protein-coding gene	gene with protein product	"""cancer/testis antigen 107"""	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.240C>T	X.37:g.119293081C>T			Q9BR00	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G80	ENST00000371388.3	37	c.240	CCDS14594.1	X																																																																																			RHOXF2	-	NULL	ENSG00000131721		0.602	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF2	HGNC	protein_coding	OTTHUMT00000411977.1	99	0.00	0	C	NM_032498		119293081	119293081	+1	no_errors	ENST00000371388	ensembl	human	known	69_37n	silent	63	14.67	11	SNP	0.000	T
RSC1A1	6248	genome.wustl.edu	37	1	15987818	15987818	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr1:15987818C>T	ENST00000345034.1	+	1	1455	c.1455C>T	c.(1453-1455)caC>caT	p.H485H	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	485					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGTTACACTGCACCTTAG	0.423																																						dbGAP											0													83.0	75.0	78.0					1																	15987818		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1455C>T	1.37:g.15987818C>T			B2RBP5	Silent	SNP	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.H485	ENST00000345034.1	37	c.1455	CCDS161.1	1																																																																																			RSC1A1	-	NULL	ENSG00000215695		0.423	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSC1A1	HGNC	protein_coding	OTTHUMT00000145500.1	119	0.00	0	C	NM_006511		15987818	15987818	+1	no_errors	ENST00000345034	ensembl	human	known	69_37n	silent	120	10.45	14	SNP	0.009	T
RSC1A1	6248	genome.wustl.edu	37	1	15987818	15987818	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr1:15987818C>T	ENST00000345034.1	+	1	1455	c.1455C>T	c.(1453-1455)caC>caT	p.H485H	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	485					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGTTACACTGCACCTTAG	0.423																																						dbGAP											0													83.0	75.0	78.0					1																	15987818		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1455C>T	1.37:g.15987818C>T			B2RBP5	Silent	SNP	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.H485	ENST00000345034.1	37	c.1455	CCDS161.1	1																																																																																			RSC1A1	-	NULL	ENSG00000215695		0.423	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSC1A1	HGNC	protein_coding	OTTHUMT00000145500.1	139	0.00	0	C	NM_006511		15987818	15987818	+1	no_errors	ENST00000345034	ensembl	human	known	69_37n	silent	120	10.45	14	SNP	0.009	T
SDPR	8436	genome.wustl.edu	37	2	192700907	192700907	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr2:192700907C>T	ENST00000304141.4	-	2	1349	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGGCGAGGGACGCTTCGGAAT	0.567																																						dbGAP											0													106.0	106.0	106.0					2																	192700907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1020G>A	2.37:g.192700907C>T				Silent	SNP	NULL	p.A340	ENST00000304141.4	37	c.1020	CCDS2313.1	2																																																																																			SDPR	-	NULL	ENSG00000168497		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	223	0.00	0	C	NM_004657		192700907	192700907	-1	no_errors	ENST00000304141	ensembl	human	known	69_37n	silent	164	32.23	78	SNP	0.000	T
SDPR	8436	genome.wustl.edu	37	2	192700907	192700907	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr2:192700907C>T	ENST00000304141.4	-	2	1349	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGGCGAGGGACGCTTCGGAAT	0.567																																						dbGAP											0													106.0	106.0	106.0					2																	192700907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1020G>A	2.37:g.192700907C>T				Silent	SNP	NULL	p.A340	ENST00000304141.4	37	c.1020	CCDS2313.1	2																																																																																			SDPR	-	NULL	ENSG00000168497		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	167	0.00	0	C	NM_004657		192700907	192700907	-1	no_errors	ENST00000304141	ensembl	human	known	69_37n	silent	164	32.23	78	SNP	0.000	T
SMARCA4	6597	genome.wustl.edu	37	19	11144187	11144188	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr19:11144187_11144188delGG	ENST00000429416.3	+	27	4049_4050	c.3768_3769delGG	c.(3766-3771)caggatfs	p.D1257fs	SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Frame_Shift_Del_p.D1257fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1257					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACGAGGAGCAGGATGAGGTGAG	0.589			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3768_3769delGG	19.37:g.11144187_11144188delGG	ENSP00000395654:p.Asp1257fs		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.D1257fs	ENST00000429416.3	37	c.3768_3769	CCDS12253.1	19																																																																																			SMARCA4	-	NULL	ENSG00000127616		0.589	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	45	0.00	0	GG	NM_003072		11144187	11144188	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	frame_shift_del	35	56.25	45	DEL	1.000:1.000	-
SMARCA4	6597	genome.wustl.edu	37	19	11144187	11144188	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr19:11144187_11144188delGG	ENST00000429416.3	+	27	4049_4050	c.3768_3769delGG	c.(3766-3771)caggatfs	p.D1257fs	SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.D1257fs|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Frame_Shift_Del_p.D1257fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1257					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACGAGGAGCAGGATGAGGTGAG	0.589			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3768_3769delGG	19.37:g.11144187_11144188delGG	ENSP00000395654:p.Asp1257fs		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.D1257fs	ENST00000429416.3	37	c.3768_3769	CCDS12253.1	19																																																																																			SMARCA4	-	NULL	ENSG00000127616		0.589	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	20	0.00	0	GG	NM_003072		11144187	11144188	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	frame_shift_del	35	56.25	45	DEL	1.000:1.000	-
SMARCA4	6597	genome.wustl.edu	37	19	11144189	11144190	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr19:11144189_11144190insC	ENST00000429416.3	+	27	4051_4052	c.3770_3771insC	c.(3769-3774)gatgagfs	p.E1258fs	SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Frame_Shift_Ins_p.E1258fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1258					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAGGAGCAGGATGAGGTGAGCC	0.584			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	Exception_encountered	19.37:g.11144189_11144190insC	ENSP00000395654:p.Glu1258fs		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.E1258fs	ENST00000429416.3	37	c.3770_3771	CCDS12253.1	19																																																																																			SMARCA4	-	NULL	ENSG00000127616		0.584	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	44	0.00	0	-	NM_003072		11144189	11144190	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	frame_shift_ins	37	54.88	45	INS	1.000:0.906	C
SMARCA4	6597	genome.wustl.edu	37	19	11144189	11144190	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr19:11144189_11144190insC	ENST00000429416.3	+	27	4051_4052	c.3770_3771insC	c.(3769-3774)gatgagfs	p.E1258fs	SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.E1258fs|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Frame_Shift_Ins_p.E1258fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1258					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAGGAGCAGGATGAGGTGAGCC	0.584			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	Exception_encountered	19.37:g.11144189_11144190insC	ENSP00000395654:p.Glu1258fs		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.E1258fs	ENST00000429416.3	37	c.3770_3771	CCDS12253.1	19																																																																																			SMARCA4	-	NULL	ENSG00000127616		0.584	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	22	0.00	0	-	NM_003072		11144189	11144190	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	frame_shift_ins	37	54.88	45	INS	1.000:0.906	C
SMO	6608	genome.wustl.edu	37	7	128852230	128852230	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr7:128852230C>T	ENST00000249373.3	+	12	2582	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	768					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GGGCCTGGGGCCTATTCACTC	0.622			Mis		skin basal cell																																	dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													44.0	49.0	48.0					7																	128852230		2203	4299	6502	-	-	-	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2302C>T	7.37:g.128852230C>T	ENSP00000249373:p.Pro768Ser		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.P768S	ENST00000249373.3	37	c.2302	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734846	0.48939	.	.	ENSG00000128602	ENST00000249373	T	0.80214	-1.35	5.35	4.45	0.53987	.	0.057371	0.64402	N	0.000001	T	0.64983	0.2648	N	0.14661	0.345	0.52099	D	0.999944	B	0.02656	0.0	B	0.08055	0.003	T	0.58994	-0.7537	10	0.35671	T	0.21	.	10.5739	0.45217	0.0:0.9091:0.0:0.0909	.	768	Q99835	SMO_HUMAN	S	768	ENSP00000249373:P768S	ENSP00000249373:P768S	P	+	1	0	SMO	128639466	1.000000	0.71417	0.928000	0.36995	0.834000	0.47266	4.066000	0.57520	1.218000	0.43458	0.591000	0.81541	CCT	SMO	-	NULL	ENSG00000128602		0.622	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	58	0.00	0	C	NM_005631		128852230	128852230	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	missense	71	20.00	18	SNP	0.996	T
SMO	6608	genome.wustl.edu	37	7	128852230	128852230	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr7:128852230C>T	ENST00000249373.3	+	12	2582	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	768					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GGGCCTGGGGCCTATTCACTC	0.622			Mis		skin basal cell																																	dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													44.0	49.0	48.0					7																	128852230		2203	4299	6502	-	-	-	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2302C>T	7.37:g.128852230C>T	ENSP00000249373:p.Pro768Ser		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.P768S	ENST00000249373.3	37	c.2302	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734846	0.48939	.	.	ENSG00000128602	ENST00000249373	T	0.80214	-1.35	5.35	4.45	0.53987	.	0.057371	0.64402	N	0.000001	T	0.64983	0.2648	N	0.14661	0.345	0.52099	D	0.999944	B	0.02656	0.0	B	0.08055	0.003	T	0.58994	-0.7537	10	0.35671	T	0.21	.	10.5739	0.45217	0.0:0.9091:0.0:0.0909	.	768	Q99835	SMO_HUMAN	S	768	ENSP00000249373:P768S	ENSP00000249373:P768S	P	+	1	0	SMO	128639466	1.000000	0.71417	0.928000	0.36995	0.834000	0.47266	4.066000	0.57520	1.218000	0.43458	0.591000	0.81541	CCT	SMO	-	NULL	ENSG00000128602		0.622	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	49	0.00	0	C	NM_005631		128852230	128852230	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	missense	71	20.00	18	SNP	0.996	T
SPEN	23013	genome.wustl.edu	37	1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10906_10907delGA	1.37:g.16265835_16265836delGA	ENSP00000364912:p.Glu3636fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.H3638fs	ENST00000375759.3	37	c.10906_10907	CCDS164.1	1																																																																																			SPEN	-	superfamily_SPOC-like,pfscan_SPOC_met	ENSG00000065526		0.584	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	136	0.00	0	GA	NM_015001		16265833	16265834	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	75	14.77	13	DEL	0.999:1.000	-
SPEN	23013	genome.wustl.edu	37	1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10906_10907delGA	1.37:g.16265835_16265836delGA	ENSP00000364912:p.Glu3636fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.H3638fs	ENST00000375759.3	37	c.10906_10907	CCDS164.1	1																																																																																			SPEN	-	superfamily_SPOC-like,pfscan_SPOC_met	ENSG00000065526		0.584	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	160	0.00	0	GA	NM_015001		16265833	16265834	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	75	14.77	13	DEL	0.999:1.000	-
SRGAP1	57522	genome.wustl.edu	37	12	64474111	64474111	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr12:64474111C>A	ENST00000355086.3	+	10	1893	c.1369C>A	c.(1369-1371)Caa>Aaa	p.Q457K	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q457K|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q417K|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	457	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACAAAACTTCAAGCCAAACA	0.358																																						dbGAP											0													69.0	65.0	66.0					12																	64474111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1369C>A	12.37:g.64474111C>A	ENSP00000347198:p.Gln457Lys		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q457K	ENST00000355086.3	37	c.1369	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857718	0.91433	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.21734	3.03;2.58;1.99	4.32	4.32	0.51571	.	0.000000	0.34088	U	0.004280	T	0.23532	0.0569	L	0.56340	1.77	0.80722	D	1	B;B;B	0.23490	0.025;0.086;0.077	B;B;B	0.24155	0.023;0.051;0.051	T	0.04537	-1.0944	9	.	.	.	.	18.1272	0.89590	0.0:1.0:0.0:0.0	.	457;417;457	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	K	457;457;417	ENSP00000347198:Q457K;ENSP00000350480:Q457K;ENSP00000437948:Q417K	.	Q	+	1	0	SRGAP1	62760378	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.157000	0.77461	2.695000	0.91970	0.555000	0.69702	CAA	SRGAP1	-	NULL	ENSG00000196935		0.358	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	105	0.00	0	C			64474111	64474111	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	missense	102	40.35	69	SNP	1.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64474111	64474111	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr12:64474111C>A	ENST00000355086.3	+	10	1893	c.1369C>A	c.(1369-1371)Caa>Aaa	p.Q457K	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q457K|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q417K|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	457	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACAAAACTTCAAGCCAAACA	0.358																																						dbGAP											0													69.0	65.0	66.0					12																	64474111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1369C>A	12.37:g.64474111C>A	ENSP00000347198:p.Gln457Lys		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q457K	ENST00000355086.3	37	c.1369	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857718	0.91433	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.21734	3.03;2.58;1.99	4.32	4.32	0.51571	.	0.000000	0.34088	U	0.004280	T	0.23532	0.0569	L	0.56340	1.77	0.80722	D	1	B;B;B	0.23490	0.025;0.086;0.077	B;B;B	0.24155	0.023;0.051;0.051	T	0.04537	-1.0944	9	.	.	.	.	18.1272	0.89590	0.0:1.0:0.0:0.0	.	457;417;457	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	K	457;457;417	ENSP00000347198:Q457K;ENSP00000350480:Q457K;ENSP00000437948:Q417K	.	Q	+	1	0	SRGAP1	62760378	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.157000	0.77461	2.695000	0.91970	0.555000	0.69702	CAA	SRGAP1	-	NULL	ENSG00000196935		0.358	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	161	0.00	0	C			64474111	64474111	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	missense	102	40.35	69	SNP	1.000	A
ST14	6768	genome.wustl.edu	37	11	130078396	130078396	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr11:130078396C>T	ENST00000278742.5	+	17	2504	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	696	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGGCTCAAGCGCATCATCTC	0.632																																						dbGAP											0													77.0	72.0	74.0					11																	130078396		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2086C>T	11.37:g.130078396C>T	ENSP00000278742:p.Arg696Cys		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R696C	ENST00000278742.5	37	c.2086	CCDS8487.1	11	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477198	0.63849	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.93811	-3.29	5.4	5.4	0.78164	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.241649	0.22560	N	0.058471	D	0.96125	0.8737	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	D	0.96355	0.9261	10	0.87932	D	0	.	14.4973	0.67698	0.1475:0.8525:0.0:0.0	.	696	Q9Y5Y6	ST14_HUMAN	C	696;598	ENSP00000278742:R696C	ENSP00000278742:R696C	R	+	1	0	ST14	129583606	1.000000	0.71417	0.991000	0.47740	0.389000	0.30415	2.416000	0.44644	2.533000	0.85409	0.313000	0.20887	CGC	ST14	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6	ENSG00000149418		0.632	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	32	0.00	0	C			130078396	130078396	+1	no_errors	ENST00000278742	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	T
ST14	6768	genome.wustl.edu	37	11	130078396	130078396	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr11:130078396C>T	ENST00000278742.5	+	17	2504	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	696	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGGCTCAAGCGCATCATCTC	0.632																																						dbGAP											0													77.0	72.0	74.0					11																	130078396		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2086C>T	11.37:g.130078396C>T	ENSP00000278742:p.Arg696Cys		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R696C	ENST00000278742.5	37	c.2086	CCDS8487.1	11	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477198	0.63849	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.93811	-3.29	5.4	5.4	0.78164	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.241649	0.22560	N	0.058471	D	0.96125	0.8737	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	D	0.96355	0.9261	10	0.87932	D	0	.	14.4973	0.67698	0.1475:0.8525:0.0:0.0	.	696	Q9Y5Y6	ST14_HUMAN	C	696;598	ENSP00000278742:R696C	ENSP00000278742:R696C	R	+	1	0	ST14	129583606	1.000000	0.71417	0.991000	0.47740	0.389000	0.30415	2.416000	0.44644	2.533000	0.85409	0.313000	0.20887	CGC	ST14	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6	ENSG00000149418		0.632	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	32	0.00	0	C			130078396	130078396	+1	no_errors	ENST00000278742	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	T
STAT2	6773	genome.wustl.edu	37	12	56750353	56750353	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr12:56750353C>T	ENST00000314128.4	-	2	26	c.3G>A	c.(1-3)atG>atA	p.M1I	STAT2_ENST00000557235.1_Start_Codon_SNP_p.M1I|STAT2_ENST00000418572.2_Start_Codon_SNP_p.M1I			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	1					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCCACTGCGCCATTTGGGCTC	0.453																																						dbGAP											0													83.0	73.0	77.0					12																	56750353		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.3G>A	12.37:g.56750353C>T	ENSP00000315768:p.Met1Ile		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.M1I	ENST00000314128.4	37	c.3	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561392	0.86335	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.58652	0.32;0.32;0.32	4.58	4.58	0.56647	STAT transcription factor, protein interaction (2);	0.255861	0.49305	D	0.000153	T	0.75715	0.3887	.	.	.	0.45172	D	0.998182	D;D;D	0.89917	0.997;1.0;0.969	D;D;D	0.83275	0.986;0.996;0.914	T	0.79172	-0.1913	9	0.87932	D	0	-26.11	14.7773	0.69740	0.0:1.0:0.0:0.0	.	1;1;1	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	I	1	ENSP00000315768:M1I;ENSP00000450751:M1I;ENSP00000387354:M1I	ENSP00000315768:M1I	M	-	3	0	STAT2	55036620	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.326000	0.72905	2.551000	0.86045	0.563000	0.77884	ATG	STAT2	-	superfamily_STAT_TF_prot_interaction	ENSG00000170581		0.453	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	130	0.00	0	C	NM_005419	Missense_Mutation	56750353	56750353	-1	no_errors	ENST00000314128	ensembl	human	known	69_37n	missense	192	14.29	32	SNP	1.000	T
STAT2	6773	genome.wustl.edu	37	12	56750353	56750353	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr12:56750353C>T	ENST00000314128.4	-	2	26	c.3G>A	c.(1-3)atG>atA	p.M1I	STAT2_ENST00000557235.1_Start_Codon_SNP_p.M1I|STAT2_ENST00000418572.2_Start_Codon_SNP_p.M1I			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	1					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCCACTGCGCCATTTGGGCTC	0.453																																						dbGAP											0													83.0	73.0	77.0					12																	56750353		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.3G>A	12.37:g.56750353C>T	ENSP00000315768:p.Met1Ile		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.M1I	ENST00000314128.4	37	c.3	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561392	0.86335	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.58652	0.32;0.32;0.32	4.58	4.58	0.56647	STAT transcription factor, protein interaction (2);	0.255861	0.49305	D	0.000153	T	0.75715	0.3887	.	.	.	0.45172	D	0.998182	D;D;D	0.89917	0.997;1.0;0.969	D;D;D	0.83275	0.986;0.996;0.914	T	0.79172	-0.1913	9	0.87932	D	0	-26.11	14.7773	0.69740	0.0:1.0:0.0:0.0	.	1;1;1	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	I	1	ENSP00000315768:M1I;ENSP00000450751:M1I;ENSP00000387354:M1I	ENSP00000315768:M1I	M	-	3	0	STAT2	55036620	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.326000	0.72905	2.551000	0.86045	0.563000	0.77884	ATG	STAT2	-	superfamily_STAT_TF_prot_interaction	ENSG00000170581		0.453	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	132	0.00	0	C	NM_005419	Missense_Mutation	56750353	56750353	-1	no_errors	ENST00000314128	ensembl	human	known	69_37n	missense	192	14.29	32	SNP	1.000	T
STAT5B	6777	genome.wustl.edu	37	17	40371806	40371806	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr17:40371806G>A	ENST00000293328.3	-	6	773	c.605C>T	c.(604-606)aCg>aTg	p.T202M		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	202					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CTGGAGGGCCGTCTCCCGGCT	0.652																																						dbGAP											0													22.0	25.0	24.0					17																	40371806		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.605C>T	17.37:g.40371806G>A	ENSP00000293328:p.Thr202Met		Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.T202M	ENST00000293328.3	37	c.605	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758518	0.69763	.	.	ENSG00000173757	ENST00000293328	T	0.59772	0.24	4.62	4.62	0.57501	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.204985	0.52532	D	0.000073	T	0.58935	0.2157	L	0.34521	1.04	0.44155	D	0.996951	P;D	0.61697	0.842;0.99	P;P	0.52189	0.453;0.692	T	0.62469	-0.6848	10	0.51188	T	0.08	-9.8006	17.6832	0.88249	0.0:0.0:1.0:0.0	.	202;202	Q8WW55;P51692	.;STA5B_HUMAN	M	202	ENSP00000293328:T202M	ENSP00000293328:T202M	T	-	2	0	STAT5B	37625332	1.000000	0.71417	0.988000	0.46212	0.945000	0.59286	9.442000	0.97566	2.409000	0.81822	0.561000	0.74099	ACG	STAT5B	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000173757		0.652	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	27	0.00	0	G	NM_012448		40371806	40371806	-1	no_errors	ENST00000293328	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	1.000	A
STAT5B	6777	genome.wustl.edu	37	17	40371806	40371806	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr17:40371806G>A	ENST00000293328.3	-	6	773	c.605C>T	c.(604-606)aCg>aTg	p.T202M		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	202					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CTGGAGGGCCGTCTCCCGGCT	0.652																																						dbGAP											0													22.0	25.0	24.0					17																	40371806		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.605C>T	17.37:g.40371806G>A	ENSP00000293328:p.Thr202Met		Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.T202M	ENST00000293328.3	37	c.605	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758518	0.69763	.	.	ENSG00000173757	ENST00000293328	T	0.59772	0.24	4.62	4.62	0.57501	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.204985	0.52532	D	0.000073	T	0.58935	0.2157	L	0.34521	1.04	0.44155	D	0.996951	P;D	0.61697	0.842;0.99	P;P	0.52189	0.453;0.692	T	0.62469	-0.6848	10	0.51188	T	0.08	-9.8006	17.6832	0.88249	0.0:0.0:1.0:0.0	.	202;202	Q8WW55;P51692	.;STA5B_HUMAN	M	202	ENSP00000293328:T202M	ENSP00000293328:T202M	T	-	2	0	STAT5B	37625332	1.000000	0.71417	0.988000	0.46212	0.945000	0.59286	9.442000	0.97566	2.409000	0.81822	0.561000	0.74099	ACG	STAT5B	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000173757		0.652	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	26	0.00	0	G	NM_012448		40371806	40371806	-1	no_errors	ENST00000293328	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	1.000	A
STAT6	6778	genome.wustl.edu	37	12	57499326	57499326	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr12:57499326C>T	ENST00000300134.3	-	8	1062	c.737G>A	c.(736-738)gGt>gAt	p.G246D	STAT6_ENST00000543873.2_Missense_Mutation_p.G246D|STAT6_ENST00000556155.1_Missense_Mutation_p.G246D|STAT6_ENST00000538913.2_Missense_Mutation_p.G136D|STAT6_ENST00000537215.2_Missense_Mutation_p.G136D|STAT6_ENST00000454075.3_Missense_Mutation_p.G246D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	246				G -> D (in Ref. 4; BAH14513). {ECO:0000305}.	cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGCTCCCCACCAGCCGCCCC	0.622																																						dbGAP											0													38.0	41.0	40.0					12																	57499326		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.737G>A	12.37:g.57499326C>T	ENSP00000300134:p.Gly246Asp		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.G246D	ENST00000300134.3	37	c.737	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	C	6.825	0.521395	0.13005	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.3	4.38	0.52667	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.773209	0.11797	N	0.528554	T	0.30039	0.0752	N	0.02539	-0.55	0.32664	N	0.51775	P;B	0.42456	0.78;0.174	B;B	0.42214	0.38;0.142	T	0.17048	-1.0382	10	0.33141	T	0.24	-3.877	11.0106	0.47661	0.0:0.7974:0.2026:0.0	.	246;246	A8K4S9;P42226	.;STAT6_HUMAN	D	246;136;136;246;246;136;246;136;246	ENSP00000300134:G246D;ENSP00000445409:G136D;ENSP00000438451:G246D;ENSP00000451742:G246D;ENSP00000444530:G136D;ENSP00000401486:G246D	ENSP00000300134:G246D	G	-	2	0	STAT6	55785593	0.005000	0.15991	0.998000	0.56505	0.013000	0.08279	2.053000	0.41326	2.769000	0.95229	0.655000	0.94253	GGT	STAT6	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000166888		0.622	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	26	0.00	0	C	NM_003153		57499326	57499326	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	0.993	T
STAT6	6778	genome.wustl.edu	37	12	57499326	57499326	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr12:57499326C>T	ENST00000300134.3	-	8	1062	c.737G>A	c.(736-738)gGt>gAt	p.G246D	STAT6_ENST00000543873.2_Missense_Mutation_p.G246D|STAT6_ENST00000556155.1_Missense_Mutation_p.G246D|STAT6_ENST00000538913.2_Missense_Mutation_p.G136D|STAT6_ENST00000537215.2_Missense_Mutation_p.G136D|STAT6_ENST00000454075.3_Missense_Mutation_p.G246D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	246				G -> D (in Ref. 4; BAH14513). {ECO:0000305}.	cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGCTCCCCACCAGCCGCCCC	0.622																																						dbGAP											0													38.0	41.0	40.0					12																	57499326		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.737G>A	12.37:g.57499326C>T	ENSP00000300134:p.Gly246Asp		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.G246D	ENST00000300134.3	37	c.737	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	C	6.825	0.521395	0.13005	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.3	4.38	0.52667	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.773209	0.11797	N	0.528554	T	0.30039	0.0752	N	0.02539	-0.55	0.32664	N	0.51775	P;B	0.42456	0.78;0.174	B;B	0.42214	0.38;0.142	T	0.17048	-1.0382	10	0.33141	T	0.24	-3.877	11.0106	0.47661	0.0:0.7974:0.2026:0.0	.	246;246	A8K4S9;P42226	.;STAT6_HUMAN	D	246;136;136;246;246;136;246;136;246	ENSP00000300134:G246D;ENSP00000445409:G136D;ENSP00000438451:G246D;ENSP00000451742:G246D;ENSP00000444530:G136D;ENSP00000401486:G246D	ENSP00000300134:G246D	G	-	2	0	STAT6	55785593	0.005000	0.15991	0.998000	0.56505	0.013000	0.08279	2.053000	0.41326	2.769000	0.95229	0.655000	0.94253	GGT	STAT6	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil	ENSG00000166888		0.622	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	33	0.00	0	C	NM_003153		57499326	57499326	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	0.993	T
SYNE1	23345	genome.wustl.edu	37	6	152652194	152652194	+	Silent	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr6:152652194G>A	ENST00000367255.5	-	78	14227	c.13626C>T	c.(13624-13626)gtC>gtT	p.V4542V	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.V4542V|SYNE1_ENST00000423061.1_Silent_p.V4471V|SYNE1_ENST00000448038.1_Silent_p.V4471V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4542					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACTGTCATAGACACTCTGCA	0.438										HNSCC(10;0.0054)																												dbGAP											0													159.0	163.0	162.0					6																	152652194		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13626C>T	6.37:g.152652194G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V4542	ENST00000367255.5	37	c.13626	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	308	0.00	0	G	NM_182961		152652194	152652194	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	silent	362	11.25	46	SNP	0.970	A
SYNE1	23345	genome.wustl.edu	37	6	152652194	152652194	+	Silent	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr6:152652194G>A	ENST00000367255.5	-	78	14227	c.13626C>T	c.(13624-13626)gtC>gtT	p.V4542V	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.V4542V|SYNE1_ENST00000423061.1_Silent_p.V4471V|SYNE1_ENST00000448038.1_Silent_p.V4471V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4542					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACTGTCATAGACACTCTGCA	0.438										HNSCC(10;0.0054)																												dbGAP											0													159.0	163.0	162.0					6																	152652194		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13626C>T	6.37:g.152652194G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V4542	ENST00000367255.5	37	c.13626	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	314	0.00	0	G	NM_182961		152652194	152652194	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	silent	362	11.25	46	SNP	0.970	A
USH2A	7399	genome.wustl.edu	37	1	215955505	215955505	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr1:215955505C>A	ENST00000307340.3	-	54	11005	c.10619G>T	c.(10618-10620)gGa>gTa	p.G3540V	USH2A_ENST00000366943.2_Missense_Mutation_p.G3540V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3540	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGTTCAATTCCATTTCGAAG	0.358										HNSCC(13;0.011)																												dbGAP											0													75.0	73.0	74.0					1																	215955505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10619G>T	1.37:g.215955505C>A	ENSP00000305941:p.Gly3540Val		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G3540V	ENST00000307340.3	37	c.10619	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777115	0.90195	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000487	T	0.78585	0.4306	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80009	-0.1562	10	0.54805	T	0.06	.	20.3277	0.98707	0.0:1.0:0.0:0.0	.	3540	O75445	USH2A_HUMAN	V	3540	ENSP00000305941:G3540V;ENSP00000355910:G3540V	ENSP00000305941:G3540V	G	-	2	0	USH2A	214022128	1.000000	0.71417	0.854000	0.33618	0.947000	0.59692	6.634000	0.74290	2.879000	0.98667	0.650000	0.86243	GGA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	118	0.00	0	C	NM_007123		215955505	215955505	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	145	43.36	111	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	215955505	215955505	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr1:215955505C>A	ENST00000307340.3	-	54	11005	c.10619G>T	c.(10618-10620)gGa>gTa	p.G3540V	USH2A_ENST00000366943.2_Missense_Mutation_p.G3540V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3540	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGTTCAATTCCATTTCGAAG	0.358										HNSCC(13;0.011)																												dbGAP											0													75.0	73.0	74.0					1																	215955505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10619G>T	1.37:g.215955505C>A	ENSP00000305941:p.Gly3540Val		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G3540V	ENST00000307340.3	37	c.10619	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777115	0.90195	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000487	T	0.78585	0.4306	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80009	-0.1562	10	0.54805	T	0.06	.	20.3277	0.98707	0.0:1.0:0.0:0.0	.	3540	O75445	USH2A_HUMAN	V	3540	ENSP00000305941:G3540V;ENSP00000355910:G3540V	ENSP00000305941:G3540V	G	-	2	0	USH2A	214022128	1.000000	0.71417	0.854000	0.33618	0.947000	0.59692	6.634000	0.74290	2.879000	0.98667	0.650000	0.86243	GGA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	191	0.00	0	C	NM_007123		215955505	215955505	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	145	43.36	111	SNP	1.000	A
ZNF527	84503	genome.wustl.edu	37	19	37879753	37879753	+	Missense_Mutation	SNP	C	C	T	rs539905451		TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr19:37879753C>T	ENST00000436120.2	+	5	909	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGACCACTCATTTTGGAAA	0.373																																						dbGAP											0													112.0	103.0	106.0					19																	37879753		1903	4138	6041	-	-	-	SO:0001583	missense	0			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.802C>T	19.37:g.37879753C>T	ENSP00000390179:p.His268Tyr		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H268Y	ENST00000436120.2	37	c.802	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596521	0.46318	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	3.12	0.35913	.	0.476965	0.15733	N	0.247302	D	0.86736	0.6004	H	0.98314	4.2	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.64410	0.842;0.925	D	0.88172	0.2865	9	0.72032	D	0.01	.	10.3428	0.43889	0.1974:0.8026:0.0:0.0	.	268;236	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	Y	268;236;216	.	ENSP00000325231:H236Y	H	+	1	0	ZNF527	42571593	0.974000	0.33945	0.008000	0.14137	0.931000	0.56810	2.861000	0.48380	0.937000	0.37394	0.655000	0.94253	CAT	ZNF527	-	NULL	ENSG00000189164		0.373	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	397	0.00	0	C	NM_032453		37879753	37879753	+1	no_errors	ENST00000436120	ensembl	human	known	69_37n	missense	398	39.51	260	SNP	0.948	T
ZNF527	84503	genome.wustl.edu	37	19	37879753	37879753	+	Missense_Mutation	SNP	C	C	T	rs539905451		TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr19:37879753C>T	ENST00000436120.2	+	5	909	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGACCACTCATTTTGGAAA	0.373																																						dbGAP											0													112.0	103.0	106.0					19																	37879753		1903	4138	6041	-	-	-	SO:0001583	missense	0			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.802C>T	19.37:g.37879753C>T	ENSP00000390179:p.His268Tyr		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H268Y	ENST00000436120.2	37	c.802	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596521	0.46318	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	3.12	0.35913	.	0.476965	0.15733	N	0.247302	D	0.86736	0.6004	H	0.98314	4.2	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.64410	0.842;0.925	D	0.88172	0.2865	9	0.72032	D	0.01	.	10.3428	0.43889	0.1974:0.8026:0.0:0.0	.	268;236	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	Y	268;236;216	.	ENSP00000325231:H236Y	H	+	1	0	ZNF527	42571593	0.974000	0.33945	0.008000	0.14137	0.931000	0.56810	2.861000	0.48380	0.937000	0.37394	0.655000	0.94253	CAT	ZNF527	-	NULL	ENSG00000189164		0.373	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	390	0.26	1	C	NM_032453		37879753	37879753	+1	no_errors	ENST00000436120	ensembl	human	known	69_37n	missense	398	39.51	260	SNP	0.948	T
ZNF112	7771	genome.wustl.edu	37	19	44834085	44834085	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr19:44834085C>T	ENST00000337401.4	-	5	331	c.243G>A	c.(241-243)agG>agA	p.R81R	ZNF112_ENST00000354340.4_Silent_p.R75R|CTC-512J12.6_ENST00000588212.1_Silent_p.R80R|ZNF112_ENST00000536500.1_Silent_p.R98R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GTTGATTCTTCCTTCCTATAA	0.393																																						dbGAP											0													40.0	41.0	41.0					19																	44834085		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.243G>A	19.37:g.44834085C>T			A4FU53|Q9HCA7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R98	ENST00000337401.4	37	c.294	CCDS54276.1	19																																																																																			ZFP112	-	NULL	ENSG00000062370		0.393	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	42	0.00	0	C	NM_013380		44834085	44834085	-1	no_errors	ENST00000536500	ensembl	human	known	69_37n	silent	59	43.27	45	SNP	0.875	T
ZNF112	7771	genome.wustl.edu	37	19	44834085	44834085	+	Silent	SNP	C	C	T			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr19:44834085C>T	ENST00000337401.4	-	5	331	c.243G>A	c.(241-243)agG>agA	p.R81R	ZNF112_ENST00000354340.4_Silent_p.R75R|CTC-512J12.6_ENST00000588212.1_Silent_p.R80R|ZNF112_ENST00000536500.1_Silent_p.R98R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GTTGATTCTTCCTTCCTATAA	0.393																																						dbGAP											0													40.0	41.0	41.0					19																	44834085		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.243G>A	19.37:g.44834085C>T			A4FU53|Q9HCA7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R98	ENST00000337401.4	37	c.294	CCDS54276.1	19																																																																																			ZFP112	-	NULL	ENSG00000062370		0.393	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	82	0.00	0	C	NM_013380		44834085	44834085	-1	no_errors	ENST00000536500	ensembl	human	known	69_37n	silent	59	43.27	45	SNP	0.875	T
ZNF672	79894	genome.wustl.edu	37	1	249141669	249141669	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	362512ab-407f-47d5-9d9a-dd29647fd176	g.chr1:249141669G>A	ENST00000306562.3	+	4	942	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACGCATGCTGGCCAGACCCT	0.652																																						dbGAP											0													27.0	20.0	22.0					1																	249141669		2200	4296	6496	-	-	-	SO:0001583	missense	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.196G>A	1.37:g.249141669G>A	ENSP00000421915:p.Gly66Ser		Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G66S	ENST00000306562.3	37	c.196	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866372	0.51588	.	.	ENSG00000171161	ENST00000306562;ENST00000428515;ENST00000306576	T;T	0.25085	1.82;2.41	4.16	2.26	0.28386	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32231	U	0.006396	T	0.34978	0.0916	M	0.83483	2.645	0.25202	N	0.990041	P	0.37708	0.606	B	0.43018	0.405	T	0.25222	-1.0138	10	0.66056	D	0.02	.	7.9205	0.29843	0.2054:0.0:0.7946:0.0	.	66	Q499Z4	ZN672_HUMAN	S	66	ENSP00000421915:G66S;ENSP00000427021:G66S	ENSP00000421915:G66S	G	+	1	0	ZNF672	247108292	0.988000	0.35896	0.091000	0.20842	0.206000	0.24218	2.519000	0.45546	0.517000	0.28361	0.655000	0.94253	GGC	ZNF672	-	pfscan_Znf_C2H2	ENSG00000171161		0.652	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	11	0.00	0	G	NM_024836		249141669	249141669	+1	no_errors	ENST00000306562	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	0.662	A
ZNF672	79894	genome.wustl.edu	37	1	249141669	249141669	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B8-01A-21W-A071-09	TCGA-BH-A0B8-11A-41W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	29798513-2bb1-49f8-8cf3-c903d72072c3	371bff18-75e9-459a-9cf6-417ced089cfc	g.chr1:249141669G>A	ENST00000306562.3	+	4	942	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACGCATGCTGGCCAGACCCT	0.652																																						dbGAP											0													27.0	20.0	22.0					1																	249141669		2200	4296	6496	-	-	-	SO:0001583	missense	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.196G>A	1.37:g.249141669G>A	ENSP00000421915:p.Gly66Ser		Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G66S	ENST00000306562.3	37	c.196	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866372	0.51588	.	.	ENSG00000171161	ENST00000306562;ENST00000428515;ENST00000306576	T;T	0.25085	1.82;2.41	4.16	2.26	0.28386	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32231	U	0.006396	T	0.34978	0.0916	M	0.83483	2.645	0.25202	N	0.990041	P	0.37708	0.606	B	0.43018	0.405	T	0.25222	-1.0138	10	0.66056	D	0.02	.	7.9205	0.29843	0.2054:0.0:0.7946:0.0	.	66	Q499Z4	ZN672_HUMAN	S	66	ENSP00000421915:G66S;ENSP00000427021:G66S	ENSP00000421915:G66S	G	+	1	0	ZNF672	247108292	0.988000	0.35896	0.091000	0.20842	0.206000	0.24218	2.519000	0.45546	0.517000	0.28361	0.655000	0.94253	GGC	ZNF672	-	pfscan_Znf_C2H2	ENSG00000171161		0.652	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	10	0.00	0	G	NM_024836		249141669	249141669	+1	no_errors	ENST00000306562	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	0.662	A
