#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ACTN1	87	genome.wustl.edu	37	14	69349765	69349767	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	GTC	GTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:69349765_69349767delGTC	ENST00000193403.6	-	15	2024_2026	c.1641_1643delGAC	c.(1639-1644)ctgacc>ctc	p.T549del	ACTN1_ENST00000394419.4_In_Frame_Del_p.T549del|ACTN1_ENST00000538545.2_In_Frame_Del_p.T549del|ACTN1_ENST00000376839.3_In_Frame_Del_p.T484del|ACTN1_ENST00000438964.2_In_Frame_Del_p.T549del	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	549	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATGGGCTGTGGTCAGTCCCTGGA	0.576																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1641_1643delGAC	14.37:g.69349765_69349767delGTC	ENSP00000193403:p.Thr549del	Somatic		WXS	Illumina GAIIx	Phase_IV	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	In_Frame_Del	DEL	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.T549in_frame_del	ENST00000193403.6	37	c.1643_1641	CCDS9792.1	14																																																																																			ACTN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000072110		0.576	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	76	0.00	0	GTC	NM_001102		69349765	69349767	-1	no_errors	ENST00000394419	ensembl	human	known	69_37n	in_frame_del	40	41.43	29	DEL	1.000:1.000:1.000	-
AHNAK2	113146	genome.wustl.edu	37	14	105408889	105408890	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:105408889_105408890insGG	ENST00000333244.5	-	7	13017_13018	c.12898_12899insCC	c.(12898-12900)atgfs	p.M4300fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4300						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAACTTGGGCATTTTGAACTTG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12898_12899insCC	14.37:g.105408889_105408890insGG	ENSP00000353114:p.Met4300fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Ins	INS	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M4300fs	ENST00000333244.5	37	c.12899_12898	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.609	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	125	0.00	0	-	NM_138420		105408889	105408890	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_ins	57	37.36	34	INS	0.885:0.839	GG
AHNAK2	113146	genome.wustl.edu	37	14	105408895	105408895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:105408895delA	ENST00000333244.5	-	7	13012	c.12893delT	c.(12892-12894)ttcfs	p.F4298fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4298						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATTTTGAACTTGCTGTC	0.607																																						dbGAP											0													241.0	257.0	252.0					14																	105408895		1997	4147	6144	-	-	-	SO:0001589	frameshift_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12893delT	14.37:g.105408895delA	ENSP00000353114:p.Phe4298fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F4298fs	ENST00000333244.5	37	c.12893	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	124	0.00	0	A	NM_138420		105408895	105408895	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_del	57	58.09	79	DEL	0.080	-
AHNAK2	113146	genome.wustl.edu	37	14	105409384	105409385	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:105409384_105409385insGG	ENST00000333244.5	-	7	12522_12523	c.12403_12404insCC	c.(12403-12405)atgfs	p.M4135fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4135						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAACTTGGGCATTTTGAACTTG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12403_12404insCC	14.37:g.105409384_105409385insGG	ENSP00000353114:p.Met4135fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Ins	INS	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M4135fs	ENST00000333244.5	37	c.12404_12403	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.599	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	118	0.00	0	-	NM_138420		105409384	105409385	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_ins	79	40.15	53	INS	0.769:0.474	GG
AHNAK2	113146	genome.wustl.edu	37	14	105409390	105409390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:105409390delA	ENST00000333244.5	-	7	12517	c.12398delT	c.(12397-12399)ttcfs	p.F4133fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4133						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATTTTGAACTTGCTGTC	0.597																																						dbGAP											0													290.0	300.0	297.0					14																	105409390		2010	4138	6148	-	-	-	SO:0001589	frameshift_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12398delT	14.37:g.105409390delA	ENSP00000353114:p.Phe4133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F4133fs	ENST00000333244.5	37	c.12398	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	120	0.00	0	A	NM_138420		105409390	105409390	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_del	68	64.35	148	DEL	0.988	-
AHNAK2	113146	genome.wustl.edu	37	14	105409649	105409650	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:105409649_105409650insTT	ENST00000333244.5	-	7	12257_12258	c.12138_12139insAA	c.(12136-12141)agcctcfs	p.L4047fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4047						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCCTTTGAGGCTGGCTCCCT	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12138_12139insAA	14.37:g.105409649_105409650insTT	ENSP00000353114:p.Leu4047fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Ins	INS	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L4046fs	ENST00000333244.5	37	c.12139_12138	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.629	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	102	0.00	0	-	NM_138420		105409649	105409650	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_ins	81	56.91	107	INS	0.000:0.000	TT
AHNAK2	113146	genome.wustl.edu	37	14	105409879	105409880	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:105409879_105409880insGG	ENST00000333244.5	-	7	12027_12028	c.11908_11909insCC	c.(11908-11910)atgfs	p.M3970fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3970						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAACTTGGGCATTTTGAACTTG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11908_11909insCC	14.37:g.105409879_105409880insGG	ENSP00000353114:p.Met3970fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Ins	INS	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M3970fs	ENST00000333244.5	37	c.11909_11908	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.629	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	133	0.00	0	-	NM_138420		105409879	105409880	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_ins	42	46.84	37	INS	0.180:0.170	GG
AHNAK2	113146	genome.wustl.edu	37	14	105409885	105409885	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:105409885delA	ENST00000333244.5	-	7	12022	c.11903delT	c.(11902-11904)ttcfs	p.F3968fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3968						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATTTTGAACTTGCTGTC	0.627																																						dbGAP											0													236.0	231.0	232.0					14																	105409885		2008	4165	6173	-	-	-	SO:0001589	frameshift_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11903delT	14.37:g.105409885delA	ENSP00000353114:p.Phe3968fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F3968fs	ENST00000333244.5	37	c.11903	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	133	0.00	0	A	NM_138420		105409885	105409885	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	frame_shift_del	47	69.68	108	DEL	0.873	-
ANKRD34A	284615	genome.wustl.edu	37	1	145473902	145473902	+	Missense_Mutation	SNP	G	G	T	rs200679750		TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr1:145473902G>T	ENST00000323397.4	+	4	1867	c.574G>T	c.(574-576)Gct>Tct	p.A192S	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	192						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTGCAGACCGCTGGAGGAGG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17172	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													61.0	65.0	64.0					1																	145473902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.574G>T	1.37:g.145473902G>T	ENSP00000314103:p.Ala192Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSU3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A192S	ENST00000323397.4	37	c.574	CCDS30829.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.482	0.273962	0.10403	.	.	ENSG00000181039	ENST00000323397	T	0.70631	-0.5	4.14	4.14	0.48551	.	0.655224	0.14347	N	0.325344	T	0.25754	0.0627	N	0.01168	-0.975	0.32312	N	0.563622	P	0.43909	0.821	P	0.46389	0.515	T	0.12116	-1.0560	10	0.02654	T	1	-7.3597	12.2657	0.54676	0.0:0.0:1.0:0.0	.	192	Q69YU3	AN34A_HUMAN	S	192	ENSP00000314103:A192S	ENSP00000314103:A192S	A	+	1	0	ANKRD34A	144185259	0.002000	0.14202	0.984000	0.44739	0.920000	0.55202	0.041000	0.13927	2.597000	0.87782	0.485000	0.47835	GCT	ANKRD34A	-	NULL	ENSG00000181039		0.612	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	179	0.00	0	G			145473902	145473902	+1	no_errors	ENST00000323397	ensembl	human	known	69_37n	missense	104	31.58	48	SNP	0.996	T
ARL6IP6	151188	genome.wustl.edu	37	2	153616311	153616311	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr2:153616311A>C	ENST00000326446.5	+	4	1349	c.638A>C	c.(637-639)aAt>aCt	p.N213T	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	213						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GCGATTTTGAATGGCATCGTA	0.373																																						dbGAP											0													140.0	116.0	124.0					2																	153616311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.638A>C	2.37:g.153616311A>C	ENSP00000315357:p.Asn213Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDS6|Q7Z4G7	Missense_Mutation	SNP	NULL	p.N213T	ENST00000326446.5	37	c.638	CCDS2197.1	2	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582748	0.86748	.	.	ENSG00000177917	ENST00000326446	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000002	T	0.77974	0.4211	M	0.69823	2.125	0.54753	D	0.999989	D;D	0.89917	0.996;1.0	D;D	0.87578	0.993;0.998	T	0.80705	-0.1263	9	0.87932	D	0	-16.4413	14.6946	0.69113	1.0:0.0:0.0:0.0	.	213;213	B3KMZ5;Q8N6S5	.;AR6P6_HUMAN	T	213	.	ENSP00000315357:N213T	N	+	2	0	ARL6IP6	153324557	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.614000	0.74197	2.171000	0.68590	0.402000	0.26972	AAT	ARL6IP6	-	NULL	ENSG00000177917		0.373	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP6	HGNC	protein_coding	OTTHUMT00000254852.3	81	0.00	0	A	NM_152522		153616311	153616311	+1	no_errors	ENST00000326446	ensembl	human	known	69_37n	missense	85	34.62	45	SNP	1.000	C
BACH2	60468	genome.wustl.edu	37	6	90660255	90660256	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A|G	A|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr6:90660255_90660256AG>GA	ENST00000257749.4	-	7	2276_2277	c.1569_1570CT>TC	c.(1567-1572)tgCTct>tgTCct	p.S524P	BACH2_ENST00000537989.1_Missense_Mutation_p.S524P|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.S524P	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	524						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAATAGGAAGAGCAGGAGCTGG	0.634																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1569_1570delinsGA	6.37:g.90660255_90660256delinsGA	ENSP00000257749:p.Ser524Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation|Silent	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.S524P|p.C523	ENST00000257749.4	37	c.1570|c.1569	CCDS5026.1	6																																																																																			BACH2	-	NULL	ENSG00000112182		0.634	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	100	0.00	0	A|G	NM_021813		90660255|90660256	90660255|90660256	-1	no_errors	ENST00000257749	ensembl	human	known	69_37n	missense|silent	56|58	83.23|80.14	278|234	SNP	1.000|0.999	G|A
BMP2	650	genome.wustl.edu	37	20	6759416	6759416	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr20:6759416C>T	ENST00000378827.4	+	3	2090	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	291					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						ACAGCGGAAACGCCTTAAGTC	0.493																																						dbGAP											0													124.0	102.0	110.0					20																	6759416		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.871C>T	20.37:g.6759416C>T	ENSP00000368104:p.Arg291Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.R291C	ENST00000378827.4	37	c.871	CCDS13099.1	20	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853083	0.71719	.	.	ENSG00000125845	ENST00000378827	T	0.64438	-0.1	5.5	5.5	0.81552	Transforming growth factor-beta, C-terminal (1);	0.225081	0.47852	D	0.000211	T	0.66577	0.2803	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	B	0.38712	0.28	T	0.76680	-0.2870	10	0.87932	D	0	.	19.7572	0.96298	0.0:1.0:0.0:0.0	.	291	P12643	BMP2_HUMAN	C	291	ENSP00000368104:R291C	ENSP00000368104:R291C	R	+	1	0	BMP2	6707416	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.655000	0.54460	2.740000	0.93945	0.650000	0.86243	CGC	BMP2	-	NULL	ENSG00000125845		0.493	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP2	HGNC	protein_coding	OTTHUMT00000077918.3	73	0.00	0	C			6759416	6759416	+1	no_errors	ENST00000378827	ensembl	human	known	69_37n	missense	113	35.80	63	SNP	1.000	T
CEL	1056	genome.wustl.edu	37	9	135944524	135944524	+	Silent	SNP	C	C	T	rs201255412	byFrequency	TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr9:135944524C>T	ENST00000372080.4	+	9	1189	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	CEL_ENST00000351304.7_Silent_p.T388T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	388					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATGTCTACACCGAGTCCTGGG	0.557																																						dbGAP											0													6.0	8.0	8.0					9																	135944524		1702	3978	5680	-	-	-	SO:0001819	synonymous_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1173C>T	9.37:g.135944524C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T391	ENST00000372080.4	37	c.1173	CCDS43896.1	9																																																																																			CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.557	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	8	0.00	0	C			135944524	135944524	+1	no_errors	ENST00000372080	ensembl	human	known	69_37n	silent	3	50.00	3	SNP	0.000	T
CNNM2	54805	genome.wustl.edu	37	10	104835989	104835990	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr10:104835989_104835990insC	ENST00000369878.4	+	7	2568_2569	c.2380_2381insC	c.(2380-2382)tacfs	p.Y794fs	CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000433628.2_Frame_Shift_Ins_p.Y772fs	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	794					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CATCCCCGATTACTCGGTGCGA	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	Exception_encountered	10.37:g.104835989_104835990insC	ENSP00000358894:p.Tyr794fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Frame_Shift_Ins	INS	pfam_DUF21,superfamily_cNMP-bd-like	p.Y795fs	ENST00000369878.4	37	c.2383_2384	CCDS44474.1	10																																																																																			CNNM2	-	NULL	ENSG00000148842		0.535	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	14	0.00	0	-	NM_017649		104835989	104835990	+1	no_errors	ENST00000457502	ensembl	human	known	69_37n	frame_shift_ins	9	30.77	4	INS	1.000:1.000	C
CXCR1	3577	genome.wustl.edu	37	2	219029024	219029024	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr2:219029024A>G	ENST00000295683.2	-	2	1031	c.911T>C	c.(910-912)aTc>aCc	p.I304T		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	304					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GAAGGCGTAGATGATGGGGTT	0.552																																						dbGAP											0													93.0	92.0	92.0					2																	219029024		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.911T>C	2.37:g.219029024A>G	ENSP00000295683:p.Ile304Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXC/IL8_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR1/IL8RA,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.I304T	ENST00000295683.2	37	c.911	CCDS2409.1	2	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900877	0.72754	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.57273	0.41	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.129548	0.53938	D	0.000042	T	0.80576	0.4649	H	0.96833	3.89	0.44995	D	0.998019	D	0.58970	0.984	D	0.68483	0.958	D	0.87026	0.2132	10	0.87932	D	0	.	13.7779	0.63066	1.0:0.0:0.0:0.0	.	304	P25024	CXCR1_HUMAN	T	304;248	ENSP00000295683:I304T	ENSP00000295683:I304T	I	-	2	0	CXCR1	218737269	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.130000	0.94437	1.949000	0.56562	0.459000	0.35465	ATC	CXCR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000163464		0.552	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR1	HGNC	protein_coding	OTTHUMT00000256773.2	159	0.00	0	A	NM_000634		219029024	219029024	-1	no_errors	ENST00000295683	ensembl	human	known	69_37n	missense	217	18.73	50	SNP	1.000	G
DCAF15	90379	genome.wustl.edu	37	19	14069901	14069902	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr19:14069901_14069902insGG	ENST00000254337.6	+	7	850_851	c.829_830insGG	c.(829-831)cccfs	p.P277fs		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	277					protein ubiquitination (GO:0016567)			p.P277L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CAGCACCTGCCCCCTGGCGCCT	0.653																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		Exception_encountered	19.37:g.14069901_14069902insGG	ENSP00000254337:p.Pro277fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS86|Q96DW0|Q9BU31	Frame_Shift_Ins	INS	NULL	p.P277fs	ENST00000254337.6	37	c.829_830	CCDS32926.1	19																																																																																			DCAF15	-	NULL	ENSG00000132017		0.653	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF15	HGNC	protein_coding	OTTHUMT00000458099.1	32	0.00	0	-	NM_138353		14069901	14069902	+1	no_errors	ENST00000254337	ensembl	human	known	69_37n	frame_shift_ins	13	38.10	8	INS	0.017:0.033	GG
EGR1	1958	genome.wustl.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H333fs	ENST00000239938.4	37	c.993_994	CCDS4206.1	5																																																																																			EGR1	-	NULL	ENSG00000120738		0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	76	0.00	0	-	NM_001964		137803131	137803132	+1	no_errors	ENST00000239938	ensembl	human	known	69_37n	frame_shift_ins	30	18.92	7	INS	0.502:1.000	C
FAM57B	83723	genome.wustl.edu	37	16	30037078	30037078	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr16:30037078G>A	ENST00000380495.4	-	4	1240	c.509C>T	c.(508-510)cCc>cTc	p.P170L	FAM57B_ENST00000279389.4_Missense_Mutation_p.P120L|FAM57B_ENST00000564806.1_Missense_Mutation_p.P120L	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	170	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCAGACGAAGGGCGTGCTGAC	0.597																																						dbGAP											0													181.0	170.0	174.0					16																	30037078		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.509C>T	16.37:g.30037078G>A	ENSP00000369863:p.Pro170Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0J1	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.P170L	ENST00000380495.4	37	c.509	CCDS10667.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.200620|5.200620	0.94997|0.94997	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000380495|ENST00000279389	D|.	0.87334|.	-2.24|.	5.04|5.04	5.04|5.04	0.67666|0.67666	TRAM/LAG1/CLN8 homology domain (3);|.	0.056971|0.056971	0.64402|0.64402	N|D	0.000001|0.000001	D|D	0.83709|0.83709	0.5313|0.5313	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.988|.	D|D	0.87421|0.87421	0.2382|0.2382	10|7	0.72032|0.87932	D|D	0.01|0	-5.6972|-5.6972	17.1544|17.1544	0.86787|0.86787	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	170;170|.	F1T0F5;Q71RH2|.	.;FA57B_HUMAN|.	L|S	170|137	ENSP00000369863:P170L|.	ENSP00000369863:P170L|ENSP00000279389:P137S	P|P	-|-	2|1	0|0	FAM57B|FAM57B	29944579|29944579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	9.764000|9.764000	0.98949|0.98949	2.338000|2.338000	0.79540|0.79540	0.462000|0.462000	0.41574|0.41574	CCC|CCT	FAM57B	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000149926		0.597	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57B	HGNC	protein_coding	OTTHUMT00000255142.2	48	0.00	0	G	NM_031478		30037078	30037078	-1	no_errors	ENST00000380495	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	1.000	A
ALG1L	200810	genome.wustl.edu	37	3	125648080	125648080	+	IGR	SNP	G	G	A	rs3811677	byFrequency	TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr3:125648080G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						AAGTGTTTCCGAGCCTCCGGA	0.527													.|||	1160	0.231629	0.4773	0.1513	5008	,	,		18733	0.1071		0.171	False		,,,				2504	0.1472					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125648080G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNA5	RNA	SNP	-	NULL	ENST00000340333.3	37	NULL	CCDS33840.1	3																																																																																			FAM86JP	-	-	ENSG00000171084		0.527	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86JP	HGNC	protein_coding	OTTHUMT00000356347.1	23	0.00	0	G	NM_001015050		125648080	125648080	+1	no_errors	ENST00000467239	ensembl	human	known	69_37n	rna	13	23.53	4	SNP	0.141	A
FHDC1	85462	genome.wustl.edu	37	4	153897341	153897342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr4:153897341_153897342insG	ENST00000511601.1	+	12	3086_3087	c.2898_2899insG	c.(2899-2901)accfs	p.T967fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.T967fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	967									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCTCCAGCAGCACCCGTCCGGG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	Exception_encountered	4.37:g.153897341_153897342insG	ENSP00000427567:p.Thr967fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.T966fs	ENST00000511601.1	37	c.2898_2899	CCDS34081.1	4																																																																																			FHDC1	-	NULL	ENSG00000137460		0.649	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	24	0.00	0	-	NM_033393		153897341	153897342	+1	no_errors	ENST00000260008	ensembl	human	known	69_37n	frame_shift_ins	6	40.00	4	INS	0.002:0.000	G
GATA6	2627	genome.wustl.edu	37	18	19761419	19761419	+	Silent	SNP	A	A	G			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr18:19761419A>G	ENST00000269216.3	+	4	1585	c.1308A>G	c.(1306-1308)tcA>tcG	p.S436S	RNU6-702P_ENST00000364982.1_RNA|GATA6_ENST00000581694.1_Silent_p.S436S	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	436					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCTAGCCTTCATCACGGCGGC	0.428																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	dbGAP											0													109.0	100.0	103.0					18																	19761419		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1308A>G	18.37:g.19761419A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ17|P78327	Silent	SNP	pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	p.S436	ENST00000269216.3	37	c.1308	CCDS11872.1	18																																																																																			GATA6	-	pfscan_Znf_GATA	ENSG00000141448		0.428	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA6	HGNC	protein_coding	OTTHUMT00000254696.1	106	0.00	0	A	NM_005257		19761419	19761419	+1	no_errors	ENST00000269216	ensembl	human	known	69_37n	silent	48	11.11	6	SNP	0.464	G
HDAC6	10013	genome.wustl.edu	37	X	48665033	48665033	+	Silent	SNP	C	C	A			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chrX:48665033C>A	ENST00000334136.5	+	8	730	c.552C>A	c.(550-552)gcC>gcA	p.A184A	HDAC6_ENST00000413163.2_Silent_p.A129A|HDAC6_ENST00000376619.2_Silent_p.A184A|HDAC6_ENST00000444343.2_Silent_p.A198A|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	184	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACTCCTGTGCCTGCCTGGCCT	0.592																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													80.0	56.0	64.0					X																	48665033		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.552C>A	X.37:g.48665033C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.A198	ENST00000334136.5	37	c.594	CCDS14306.1	X																																																																																			HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	71	0.00	0	C	NM_006044		48665033	48665033	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	silent	86	29.51	36	SNP	0.998	A
IL13RA2	3598	genome.wustl.edu	37	X	114242611	114242611	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chrX:114242611G>A	ENST00000371936.1	-	9	1130	c.881C>T	c.(880-882)aCc>aTc	p.T294I	IL13RA2_ENST00000243213.1_Missense_Mutation_p.T294I			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	294	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTTTTCAAGGTGTATGTTTC	0.373																																						dbGAP											0													223.0	190.0	201.0					X																	114242611		2202	4300	6502	-	-	-	SO:0001583	missense	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.881C>T	X.37:g.114242611G>A	ENSP00000361004:p.Thr294Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.T294I	ENST00000371936.1	37	c.881	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	g	1.338	-0.594980	0.03771	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	T;T	0.70516	-0.49;-0.49	4.19	0.278	0.15673	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.968098	0.08595	N	0.922425	T	0.47377	0.1442	N	0.11364	0.135	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.28202	-1.0051	10	0.30854	T	0.27	0.6094	5.8555	0.18716	0.5278:0.0:0.4722:0.0	.	294	Q14627	I13R2_HUMAN	I	294	ENSP00000361004:T294I;ENSP00000243213:T294I	ENSP00000243213:T294I	T	-	2	0	IL13RA2	114148867	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.223000	0.17719	0.109000	0.17891	-0.273000	0.10243	ACC	IL13RA2	-	superfamily_Fibronectin_type3	ENSG00000123496		0.373	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	173	0.00	0	G	NM_000640		114242611	114242611	-1	no_errors	ENST00000243213	ensembl	human	known	69_37n	missense	227	21.11	61	SNP	0.000	A
JAG1	182	genome.wustl.edu	37	20	10629222	10629222	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr20:10629222G>A	ENST00000254958.5	-	12	2059	c.1544C>T	c.(1543-1545)aCt>aTt	p.T515I	JAG1_ENST00000423891.2_Missense_Mutation_p.T356I|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	515	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGAGAAACCAGTGGGACACAG	0.498									Alagille Syndrome																													dbGAP											0													66.0	63.0	64.0					20																	10629222		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1544C>T	20.37:g.10629222G>A	ENSP00000254958:p.Thr515Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.T515I	ENST00000254958.5	37	c.1544	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808445	0.50421	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87809	-2.3;-2.3	5.67	5.67	0.87782	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.101157	0.64402	D	0.000002	T	0.81522	0.4840	N	0.20807	0.61	0.45403	D	0.998389	B	0.14012	0.009	B	0.23018	0.043	T	0.74592	-0.3614	10	0.37606	T	0.19	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	515	P78504	JAG1_HUMAN	I	515;356	ENSP00000254958:T515I;ENSP00000389519:T356I	ENSP00000254958:T515I	T	-	2	0	JAG1	10577222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.686000	0.91538	0.561000	0.74099	ACT	JAG1	-	pfam_EGF-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000101384		0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		105	0.00	0	G	NM_000214		10629222	10629222	-1	no_errors	ENST00000254958	ensembl	human	known	69_37n	missense	159	78.95	600	SNP	1.000	A
LRRC41	10489	genome.wustl.edu	37	1	46745910	46745910	+	Silent	SNP	G	G	A			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr1:46745910G>A	ENST00000343304.6	-	7	2259	c.1974C>T	c.(1972-1974)gaC>gaT	p.D658D	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	658					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CGCTCTGACAGTCAGCGAGAT	0.478																																						dbGAP											0													128.0	119.0	122.0					1																	46745910		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1974C>T	1.37:g.46745910G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D658	ENST00000343304.6	37	c.1974	CCDS533.1	1																																																																																			LRRC41	-	NULL	ENSG00000132128		0.478	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	93	0.00	0	G	NM_006369		46745910	46745910	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	silent	43	27.12	16	SNP	1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56174909	56174909	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr5:56174909A>T	ENST00000399503.3	+	11	2068	c.2068A>T	c.(2068-2070)Aaa>Taa	p.K690*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	690					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATCCTAGTCAAATGTGCAGA	0.433																																						dbGAP											0													130.0	120.0	123.0					5																	56174909		1899	4121	6020	-	-	-	SO:0001587	stop_gained	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2068A>T	5.37:g.56174909A>T	ENSP00000382423:p.Lys690*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.K690*	ENST00000399503.3	37	c.2068	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	39	7.441415	0.98286	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6	0.76616	1.0:0.0:0.0:0.0	.	.	.	.	X	690	.	ENSP00000382423:K690X	K	+	1	0	MAP3K1	56210666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.672000	0.83956	2.152000	0.67230	0.460000	0.39030	AAA	MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.433	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	210	0.00	0	A	XM_042066		56174909	56174909	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	nonsense	210	24.37	68	SNP	1.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56180503	56180504	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr5:56180503_56180504delAG	ENST00000399503.3	+	16	3832_3833	c.3832_3833delAG	c.(3832-3834)agafs	p.R1278fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GACTTATGTCAGAAACACATCT	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3832_3833delAG	5.37:g.56180503_56180504delAG	ENSP00000382423:p.Arg1278fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.R1278fs	ENST00000399503.3	37	c.3832_3833	CCDS43318.1	5																																																																																			MAP3K1	-	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	ENSG00000095015		0.347	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	62	0.00	0	AG	XM_042066		56180503	56180504	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	51	26.76	19	DEL	1.000:1.000	-
MFI2	4241	genome.wustl.edu	37	3	196743992	196743993	+	Frame_Shift_Del	DEL	CC	CC	-	rs61729249	byFrequency	TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr3:196743992_196743993delCC	ENST00000296350.5	-	7	994_995	c.881_882delGG	c.(880-882)cggfs	p.R294fs		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	294	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.		R -> W (in dbSNP:rs2276790).		cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGTTGAGCAGCCGGAAGATGAG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.881_882delGG	3.37:g.196743992_196743993delCC	ENSP00000296350:p.Arg294fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQE2	Frame_Shift_Del	DEL	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.R294fs	ENST00000296350.5	37	c.882_881	CCDS3325.1	3																																																																																			MFI2	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin	ENSG00000163975		0.683	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	8	0.00	0	CC			196743992	196743993	-1	no_errors	ENST00000296350	ensembl	human	known	69_37n	frame_shift_del	5	64.29	9	DEL	0.930:0.933	-
MYH8	4626	genome.wustl.edu	37	17	10304230	10304230	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr17:10304230G>T	ENST00000403437.2	-	26	3395	c.3301C>A	c.(3301-3303)Caa>Aaa	p.Q1101K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1101					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTACAGCTTGCTCATCTTCA	0.338									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											0													69.0	66.0	67.0					17																	10304230		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3301C>A	17.37:g.10304230G>T	ENSP00000384330:p.Gln1101Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1101K	ENST00000403437.2	37	c.3301	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612688	0.87258	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83163	-1.69	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.40302	U	0.001131	D	0.89491	0.6730	M	0.80508	2.5	0.58432	D	0.999992	P	0.50066	0.931	P	0.54174	0.744	D	0.89161	0.3530	10	0.46703	T	0.11	.	19.3244	0.94256	0.0:0.0:1.0:0.0	.	1101	P13535	MYH8_HUMAN	K	1101	ENSP00000384330:Q1101K	ENSP00000252173:Q1101K	Q	-	1	0	MYH8	10244955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.649000	0.83500	2.794000	0.96219	0.655000	0.94253	CAA	MYH8	-	pfam_Myosin_tail	ENSG00000133020		0.338	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	132	0.00	0	G	NM_002472		10304230	10304230	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	94	13.76	15	SNP	1.000	T
NCAN	1463	genome.wustl.edu	37	19	19337625	19337626	+	Frame_Shift_Del	DEL	CG	CG	-	rs112146514	byFrequency	TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	CG	CG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr19:19337625_19337626delCG	ENST00000252575.6	+	7	1502_1503	c.1403_1404delCG	c.(1402-1404)acgfs	p.T468fs	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	468					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGTTCACACACGGAGGTGGCCC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1403_1404delCG	19.37:g.19337625_19337626delCG	ENSP00000252575:p.Thr468fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPK6	Frame_Shift_Del	DEL	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.T468fs	ENST00000252575.6	37	c.1403_1404	CCDS12397.1	19																																																																																			NCAN	-	NULL	ENSG00000130287		0.644	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	19	0.00	0	CG	NM_004386		19337625	19337626	+1	no_errors	ENST00000252575	ensembl	human	known	69_37n	frame_shift_del	4	50.00	4	DEL	0.004:0.000	-
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	146	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	185	21.28	50	SNP	1.000	T
PIK3CG	5294	genome.wustl.edu	37	7	106523570	106523570	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr7:106523570A>T	ENST00000359195.3	+	8	3032	c.2722A>T	c.(2722-2724)Aat>Tat	p.N908Y	PIK3CG_ENST00000440650.2_Missense_Mutation_p.N908Y|PIK3CG_ENST00000496166.1_Missense_Mutation_p.N908Y	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	908	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGAAGTCCTGAATCACTGGCT	0.423																																						dbGAP											0													125.0	121.0	122.0					7																	106523570		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2722A>T	7.37:g.106523570A>T	ENSP00000352121:p.Asn908Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N908Y	ENST00000359195.3	37	c.2722	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317662	0.40996	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	T;T;T;T	0.74632	-0.86;-0.86;0.46;-0.86	5.01	5.01	0.66863	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.607058	0.19167	N	0.121042	T	0.41971	0.1182	N	0.00801	-1.175	0.40252	D	0.978082	B	0.02656	0.0	B	0.09377	0.004	T	0.51553	-0.8691	10	0.02654	T	1	-15.0609	14.8923	0.70617	1.0:0.0:0.0:0.0	.	908	P48736	PK3CG_HUMAN	Y	908;908;181;908	ENSP00000392258:N908Y;ENSP00000419260:N908Y;ENSP00000417623:N181Y;ENSP00000352121:N908Y	ENSP00000352121:N908Y	N	+	1	0	PIK3CG	106310806	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.314000	0.59166	2.094000	0.63399	0.402000	0.26972	AAT	PIK3CG	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000105851		0.423	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	361	0.00	0	A			106523570	106523570	+1	no_errors	ENST00000359195	ensembl	human	known	69_37n	missense	335	16.67	67	SNP	0.964	T
PLEKHH1	57475	genome.wustl.edu	37	14	68053849	68053850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:68053849_68053850insC	ENST00000329153.5	+	29	4124_4125	c.3992_3993insC	c.(3991-3996)aaccccfs	p.NP1331fs	PLEKHH1_ENST00000417684.2_Frame_Shift_Ins_p.P273fs	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1331	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAACTGTGAACCCCCCCACCA	0.515																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3999dupC	14.37:g.68053856_68053856dupC	ENSP00000330278:p.Asn1331fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X6|Q6PJL4|Q6ZWC7	Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.T1334fs	ENST00000329153.5	37	c.3992_3993	CCDS45128.1	14																																																																																			PLEKHH1	-	NULL	ENSG00000054690		0.515	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	28	0.00	0	-	XM_031054		68053849	68053850	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	frame_shift_ins	48	11.11	6	INS	0.000:0.000	C
PPIB	5479	genome.wustl.edu	37	15	64449058	64449058	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr15:64449058G>A	ENST00000300026.3	-	4	612	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	PPIB_ENST00000558492.1_5'UTR|SNX22_ENST00000325881.4_3'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	132	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GGCCCGTAGTGCTTCAGTTTG	0.557																																					GBM(105;399 1481 32889 33051 36637)	dbGAP											0													127.0	110.0	115.0					15																	64449058		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.394C>T	15.37:g.64449058G>A	ENSP00000300026:p.His132Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.H132Y	ENST00000300026.3	37	c.394	CCDS10191.1	15	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421751	0.83559	.	.	ENSG00000166794	ENST00000300026	T	0.26660	1.72	5.93	5.02	0.67125	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.69026	-0.5254	10	0.87932	D	0	.	14.975	0.71264	0.0691:0.0:0.9309:0.0	.	132	P23284	PPIB_HUMAN	Y	132	ENSP00000300026:H132Y	ENSP00000300026:H132Y	H	-	1	0	PPIB	62236111	1.000000	0.71417	0.990000	0.47175	0.964000	0.63967	7.410000	0.80065	1.518000	0.48934	0.561000	0.74099	CAC	PPIB	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000166794		0.557	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	173	0.00	0	G			64449058	64449058	-1	no_errors	ENST00000300026	ensembl	human	known	69_37n	missense	104	20.00	26	SNP	1.000	A
PRICKLE4	29964	genome.wustl.edu	37	6	41752675	41752675	+	Silent	SNP	G	G	A			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr6:41752675G>A	ENST00000394260.1	+	2	123	c.123G>A	c.(121-123)gaG>gaA	p.E41E	TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000359201.5_Silent_p.E81E|PRICKLE4_ENST00000458694.1_Silent_p.E81E|PRICKLE4_ENST00000394259.1_Silent_p.E41E|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Silent_p.E81E			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	41	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCTGCAGGAGCGCTACTGCC	0.602																																						dbGAP											0													59.0	66.0	64.0					6																	41752675		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.123G>A	6.37:g.41752675G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Silent	SNP	pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM	p.E81	ENST00000394260.1	37	c.243		6																																																																																			PRICKLE4	-	pfam_PET_domain	ENSG00000124593		0.602	PRICKLE4-007	KNOWN	basic	protein_coding	PRICKLE4	HGNC	protein_coding	OTTHUMT00000303948.1	69	0.00	0	G	NM_013397		41752675	41752675	+1	no_errors	ENST00000335515	ensembl	human	known	69_37n	silent	26	25.71	9	SNP	0.987	A
PTOV1	53635	genome.wustl.edu	37	19	50363394	50363395	+	Frame_Shift_Ins	INS	-	-	T	rs149362372|rs369544515		TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr19:50363394_50363395insT	ENST00000601675.1	+	11	1297_1298	c.1193_1194insT	c.(1192-1197)cagcagfs	p.QQ398fs	PTOV1_ENST00000391842.1_Frame_Shift_Ins_p.QQ398fs|PTOV1_ENST00000600603.1_Frame_Shift_Ins_p.S343fs|AC018766.5_ENST00000593654.1_RNA|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000599259.1_RNA|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000601638.1_Frame_Shift_Ins_p.QQ366fs|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000599732.1_Frame_Shift_Ins_p.QQ398fs|PTOV1_ENST00000221557.9_Frame_Shift_Ins_p.S343fs			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	398	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCCAACCAGCAGCAGGTCCTGC	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	Exception_encountered	19.37:g.50363394_50363395insT	ENSP00000472816:p.Gln398fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Frame_Shift_Ins	INS	pfam_Mediator_Med25	p.Q398fs	ENST00000601675.1	37	c.1193_1194	CCDS12782.1	19																																																																																			PTOV1	-	pfam_Mediator_Med25	ENSG00000104960		0.604	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1	54	0.00	0	-	NM_017432		50363394	50363395	+1	no_errors	ENST00000391842	ensembl	human	known	69_37n	frame_shift_ins	13	43.48	10	INS	1.000:1.000	T
SLAIN1	122060	genome.wustl.edu	37	13	78335020	78335020	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr13:78335020C>T	ENST00000466548.1	+	7	1432	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	SLAIN1_ENST00000351546.3_Missense_Mutation_p.S206F|SLAIN1_ENST00000418532.1_Missense_Mutation_p.S250F|SLAIN1_ENST00000314070.5_Missense_Mutation_p.S92F|SLAIN1_ENST00000488699.1_Missense_Mutation_p.S327F|SLAIN1_ENST00000358679.3_Missense_Mutation_p.S206F|SLAIN1_ENST00000267219.8_Missense_Mutation_p.S250F	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	469										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TTCCCAGTGTCTATCCGACAG	0.483																																						dbGAP											0													128.0	111.0	117.0					13																	78335020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1406C>T	13.37:g.78335020C>T	ENSP00000419730:p.Ser469Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	NULL	p.S469F	ENST00000466548.1	37	c.1406		13	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465291	0.84425	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000314070;ENST00000358679	.	.	.	6.06	6.06	0.98353	.	0.290655	0.41938	D	0.000781	T	0.73118	0.3546	L	0.43152	1.355	0.42790	D	0.993892	P;P;P;D	0.64830	0.755;0.874;0.659;0.994	B;B;P;P	0.60682	0.444;0.444;0.468;0.878	T	0.73408	-0.3992	9	0.72032	D	0.01	-9.6053	20.6208	0.99490	0.0:1.0:0.0:0.0	.	205;327;92;469	B7Z326;B7Z209;Q8ND10;Q8ND83	.;.;.;SLAI1_HUMAN	F	469;469;250;327;250;206;206;92;206	.	ENSP00000267219:S250F	S	+	2	0	SLAIN1	77233021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.181000	0.50903	2.882000	0.98803	0.655000	0.94253	TCT	SLAIN1	-	NULL	ENSG00000139737		0.483	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	SLAIN1	HGNC	protein_coding	OTTHUMT00000355018.1	235	0.00	0	C	NM_144595		78335020	78335020	+1	no_errors	ENST00000466548	ensembl	human	known	69_37n	missense	146	31.13	66	SNP	0.998	T
TTC3	7267	genome.wustl.edu	37	21	38538542	38538542	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr21:38538542G>T	ENST00000399017.2	+	33	6773	c.4026G>T	c.(4024-4026)ttG>ttT	p.L1342F	TTC3_ENST00000354749.2_Missense_Mutation_p.L1342F|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.L1342F	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1342					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TACCAGGTTTGCCCCAGTACA	0.468																																					Ovarian(38;194 1649 35661)	dbGAP											0													141.0	140.0	140.0					21																	38538542		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4026G>T	21.37:g.38538542G>T	ENSP00000381981:p.Leu1342Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L1342F	ENST00000399017.2	37	c.4026	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471063	0.43942	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.09630	2.96;2.96;2.96	4.95	4.05	0.47172	.	0.658940	0.13352	N	0.394322	T	0.20820	0.0501	L	0.51422	1.61	0.80722	D	1	D;P	0.63046	0.992;0.931	P;B	0.60068	0.868;0.36	T	0.00415	-1.1753	9	.	.	.	-1.3796	8.5625	0.33520	0.1051:0.0:0.8949:0.0	.	400;1342	Q5GIT6;P53804	.;TTC3_HUMAN	F	1342	ENSP00000347889:L1342F;ENSP00000381981:L1342F;ENSP00000346791:L1342F	.	L	+	3	2	TTC3	37460412	0.137000	0.22531	0.989000	0.46669	0.554000	0.35429	0.962000	0.29280	2.464000	0.83262	0.561000	0.74099	TTG	TTC3	-	NULL	ENSG00000182670		0.468	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	257	0.00	0	G			38538542	38538542	+1	no_errors	ENST00000354749	ensembl	human	known	69_37n	missense	156	27.10	58	SNP	0.955	T
UBE4B	10277	genome.wustl.edu	37	1	10186920	10186920	+	Silent	SNP	T	T	C			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr1:10186920T>C	ENST00000253251.8	+	10	2075	c.1236T>C	c.(1234-1236)ttT>ttC	p.F412F	UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Silent_p.F541F|UBE4B_ENST00000377157.3_Silent_p.F296F					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTGACTACTTTAAATACCCCC	0.328																																						dbGAP											0													103.0	104.0	104.0					1																	10186920		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1236T>C	1.37:g.10186920T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core	p.L35S	ENST00000253251.8	37	c.104	CCDS110.1	1																																																																																			UBE4B	-	NULL	ENSG00000130939		0.328	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	150	0.00	0	T	NM_006048		10186920	10186920	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000470736	ensembl	human	novel	69_37n	missense	131	29.57	55	SNP	0.999	C
WDR7	23335	genome.wustl.edu	37	18	54694371	54694371	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr18:54694371delT	ENST00000254442.3	+	28	4617	c.4406delT	c.(4405-4407)atcfs	p.I1469fs	WDR7_ENST00000357574.3_Frame_Shift_Del_p.I1436fs|WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000589935.1_Frame_Shift_Del_p.I46fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1469					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCCGGCTCATCTGGACTTCC	0.617																																						dbGAP											0													42.0	37.0	39.0					18																	54694371		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4406delT	18.37:g.54694371delT	ENSP00000254442:p.Ile1469fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1469fs	ENST00000254442.3	37	c.4406	CCDS11962.1	18																																																																																			WDR7	-	NULL	ENSG00000091157		0.617	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	41	0.00	0	T			54694371	54694371	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	frame_shift_del	25	46.81	22	DEL	1.000	-
TSIX	9383	genome.wustl.edu	37	X	73045755	73045755	+	lincRNA	SNP	C	C	A			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chrX:73045755C>A	ENST00000604411.1	+	0	33716				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCTCAACAGTCCCAGGTTCTC	0.393																																						dbGAP											0													79.0	72.0	74.0					X																	73045755		876	1991	2867	-	-	-			0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045755C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.393	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	169	0.00	0	C	NR_003255		73045755	73045755	-1	no_errors	ENST00000429829	ensembl	human	known	69_37n	rna	206	51.64	220	SNP	0.001	A
ZFP36L1	677	genome.wustl.edu	37	14	69257141	69257142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr14:69257141_69257142insC	ENST00000439696.2	-	2	426_427	c.125_126insG	c.(124-126)ggcfs	p.G42fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.G42fs|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	42					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGCAGGGGTGCCCACTGCCTT	0.594											OREG0022753	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			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.126dupG	14.37:g.69257144_69257144dupC	ENSP00000388402:p.Gly42fs	Somatic	1113	WXS	Illumina GAIIx	Phase_IV	Q13851	Frame_Shift_Ins	INS	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.T43fs	ENST00000439696.2	37	c.126_125	CCDS9791.1	14																																																																																			ZFP36L1	-	pfam_Tis11B_N	ENSG00000185650		0.594	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	38	0.00	0	-			69257141	69257142	-1	no_errors	ENST00000336440	ensembl	human	known	69_37n	frame_shift_ins	26	21.21	7	INS	0.968:1.000	C
ZNF669	79862	genome.wustl.edu	37	1	247263686	247263686	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A03X-01A-21W-A019-09	TCGA-AN-A03X-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f177234e-e0a7-4f85-b73d-48e0080c805d	222e0fba-5b47-4ee3-b4ff-81e1a15372c1	g.chr1:247263686C>G	ENST00000343381.6	-	4	1557	c.1385G>C	c.(1384-1386)tGg>tCg	p.W462S	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.W376S	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			tcaagcaatccacacgccttg	0.453																																						dbGAP											0													56.0	55.0	56.0					1																	247263686		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.1385G>C	1.37:g.247263686C>G	ENSP00000342818:p.Trp462Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP94|Q5VT39|Q9H9Q6	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.W462S	ENST00000343381.6	37	c.1385	CCDS31088.1	1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634179	0.00806	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	T;T	0.05025	3.53;3.51	0.177	0.177	0.15054	.	.	.	.	.	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	B;B	0.18461	0.028;0.001	B;B	0.11329	0.006;0.001	T	0.42582	-0.9443	9	0.42905	T	0.14	.	2.6908	0.05120	0.0:0.5542:0.0:0.4458	.	376;462	B3KP94;Q96BR6	.;ZN669_HUMAN	S	376;376;462	ENSP00000404370:W376S;ENSP00000342818:W462S	ENSP00000342818:W462S	W	-	2	0	ZNF669	245330309	0.000000	0.05858	0.077000	0.20336	0.038000	0.13279	-0.047000	0.11963	0.284000	0.22305	0.289000	0.19496	TGG	ZNF669	-	NULL	ENSG00000188295		0.453	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF669	HGNC	protein_coding	OTTHUMT00000098394.4	47	0.00	0	C	NM_024804		247263686	247263686	-1	no_errors	ENST00000343381	ensembl	human	known	69_37n	missense	92	14.81	16	SNP	0.001	G
