#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CDAN1	146059	genome.wustl.edu	37	15	43023885	43023886	+	Frame_Shift_Ins	INS	-	-	C	rs150268243		TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr15:43023885_43023886insC	ENST00000356231.3	-	11	1694_1695	c.1671_1672insG	c.(1669-1674)gggcccfs	p.P558fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	558					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGTGGGCAGGGCCCCCCACTGC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1672dupG	15.37:g.43023891_43023891dupC	ENSP00000348564:p.Pro558fs		Q6NYD0|Q7Z7L5|Q969N3	Frame_Shift_Ins	INS	NULL	p.P557fs	ENST00000356231.3	37	c.1672_1671	CCDS32209.1	15																																																																																			CDAN1	-	NULL	ENSG00000140326		0.619	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1	36	0.00	0	-	XM_085300		43023885	43023886	-1	no_errors	ENST00000356231	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	1.000:0.026	C
ADPGK	83440	genome.wustl.edu	37	15	73048722	73048722	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr15:73048722T>C	ENST00000311669.8	-	5	803	c.710A>G	c.(709-711)aAc>aGc	p.N237S	ADPGK_ENST00000567733.1_Intron|ADPGK_ENST00000456471.2_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	237	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)	p.N237S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CATGGCCCCGTTGGAGAGGTC	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											101.0	98.0	99.0					15																	73048722		1892	4129	6021	-	-	-	SO:0001583	missense	0			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.710A>G	15.37:g.73048722T>C	ENSP00000312250:p.Asn237Ser		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	pfam_ADP_PFK/GK	p.N237S	ENST00000311669.8	37	c.710	CCDS42057.1	15	.	.	.	.	.	.	.	.	.	.	N	20.7	4.032690	0.75504	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000331065	T	0.48522	0.81	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.97110	1.0;1.0;0.898	T	0.58907	-0.7553	10	0.25751	T	0.34	-26.7466	15.5169	0.75830	0.0:0.0:0.0:1.0	.	179;237;237	B4DG35;Q9BRR6;Q9BRR6-2	.;ADPGK_HUMAN;.	S	237;156;115	ENSP00000312250:N237S	ENSP00000312250:N237S	N	-	2	0	ADPGK	70835775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.942000	0.87708	2.068000	0.61886	0.529000	0.55759	AAC	ADPGK	-	pfam_ADP_PFK/GK	ENSG00000159322		0.527	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPGK	HGNC	protein_coding	OTTHUMT00000420434.1	347	0.00	0	T	NM_031284		73048722	73048722	-1	no_errors	ENST00000311669	ensembl	human	known	69_37n	missense	170	35.85	95	SNP	1.000	C
CDH3	1001	genome.wustl.edu	37	16	68714903	68714903	+	Silent	SNP	C	C	T			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr16:68714903C>T	ENST00000264012.4	+	8	1444	c.900C>T	c.(898-900)gcC>gcT	p.A300A	CDH3_ENST00000429102.2_Silent_p.A300A|CDH3_ENST00000581171.1_Silent_p.A245A	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	300	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.A300A(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCATCCAGGCCACAGACATGG	0.557																																						dbGAP											3	Unknown(2)|Substitution - coding silent(1)	breast(3)											132.0	113.0	120.0					16																	68714903		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.900C>T	16.37:g.68714903C>T			B2R6F4|Q05DI6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A300	ENST00000264012.4	37	c.900	CCDS10868.1	16																																																																																			CDH3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000062038		0.557	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	HGNC	protein_coding	OTTHUMT00000268896.2	55	0.00	0	C	NM_001793		68714903	68714903	+1	no_errors	ENST00000264012	ensembl	human	known	69_37n	silent	65	17.72	14	SNP	0.291	T
CTSB	1508	genome.wustl.edu	37	8	11703257	11703257	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr8:11703257C>T	ENST00000353047.6	-	9	1088	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	CTSB_ENST00000533455.1_Missense_Mutation_p.A279T|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000434271.1_Missense_Mutation_p.A279T|CTSB_ENST00000453527.2_Missense_Mutation_p.A279T|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000534510.1_Missense_Mutation_p.A279T|CTSB_ENST00000531089.1_Missense_Mutation_p.A279T|CTSB_ENST00000345125.3_Missense_Mutation_p.A279T|CTSB_ENST00000530640.2_Missense_Mutation_p.A279T|CTSB_ENST00000525076.1_5'Flank	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	279					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.A279T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ATGCGGATGGCATGGCCACCC	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											128.0	85.0	99.0					8																	11703257		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.835G>A	8.37:g.11703257C>T	ENSP00000345672:p.Ala279Thr		B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.A279T	ENST00000353047.6	37	c.835	CCDS5986.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.701171	0.96812	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.43	5.43	0.79202	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95620	0.8576	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.95805	0.8836	10	0.66056	D	0.02	.	18.397	0.90502	0.0:1.0:0.0:0.0	.	216;279;279;216	B3KUJ8;A8K2H4;P07858;F5H2P9	.;.;CATB_HUMAN;.	T	279;216;279;279;279;279;279;279;279;185	ENSP00000415889:A279T;ENSP00000345672:A279T;ENSP00000435105:A279T;ENSP00000433215:A279T;ENSP00000409917:A279T;ENSP00000342070:A279T;ENSP00000432244:A279T;ENSP00000434217:A279T	ENSP00000342070:A279T	A	-	1	0	CTSB	11740666	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	7.282000	0.78630	2.825000	0.97269	0.655000	0.94253	GCC	CTSB	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	ENSG00000164733		0.607	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSB	HGNC	protein_coding	OTTHUMT00000207586.3	44	0.00	0	C	NM_147780		11703257	11703257	-1	no_errors	ENST00000353047	ensembl	human	known	69_37n	missense	22	42.11	16	SNP	1.000	T
EPHA1	2041	genome.wustl.edu	37	7	143096020	143096021	+	Frame_Shift_Ins	INS	-	-	G	rs201581948		TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr7:143096020_143096021insG	ENST00000275815.3	-	6	1095_1096	c.1009_1010insC	c.(1009-1011)cgafs	p.R337fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	337	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R337Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTCAGGTTTCGGGGGGCCGAG	0.634																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1010dupC	7.37:g.143096026_143096026dupG	ENSP00000275815:p.Arg337fs		A1L3V3|B5A966|B5A967|Q15405	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R337fs	ENST00000275815.3	37	c.1010_1009	CCDS5884.1	7																																																																																			EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146904		0.634	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	22	0.00	0	-			143096020	143096021	-1	no_errors	ENST00000275815	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	0.023:0.149	G
FAM187B	148109	genome.wustl.edu	37	19	35716083	35716084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr19:35716083_35716084insG	ENST00000324675.3	-	2	802_803	c.754_755insC	c.(754-756)ctgfs	p.L252fs		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	252						integral component of membrane (GO:0016021)		p.L252fs*1(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CTCCCACGTCAGGGGGGTGTCG	0.658																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.755dupC	19.37:g.35716089_35716089dupG	ENSP00000323355:p.Leu252fs		Q8N7G6	Frame_Shift_Ins	INS	NULL	p.L252fs	ENST00000324675.3	37	c.755_754	CCDS12448.1	19																																																																																			FAM187B	-	NULL	ENSG00000177558		0.658	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	HGNC	protein_coding	OTTHUMT00000378854.1	9	0.00	0	-	NM_152481		35716083	35716084	-1	no_errors	ENST00000324675	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	0.372:0.160	G
FN3KRP	79672	genome.wustl.edu	37	17	80674690	80674691	+	Frame_Shift_Ins	INS	-	-	G	rs200977511		TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr17:80674690_80674691insG	ENST00000269373.6	+	1	132_133	c.59_60insG	c.(58-63)tcggggfs	p.SG20fs	RP11-388C12.1_ENST00000574471.1_lincRNA|FN3KRP_ENST00000535965.1_5'UTR	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	20							kinase activity (GO:0016301)	p.G23fs*31(1)		breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACGGGCCACTCGGGGGGCGGGT	0.708																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								12,4222		1,10,2106						4.3	0.2			22	4,8204		0,4,4100	no	frameshift	FN3KRP	NM_024619.3		1,14,6206	A1A1,A1R,RR		0.0487,0.2834,0.1286				16,12426				-	-	-	SO:0001589	frameshift_variant	0			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.65dupG	17.37:g.80674696_80674696dupG	ENSP00000269373:p.Ser20fs		Q969F4|Q9H0U7	Frame_Shift_Ins	INS	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.G23fs	ENST00000269373.6	37	c.59_60	CCDS11817.1	17																																																																																			FN3KRP	-	pfam_Fructo-/Ketosamine-3-kinase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000141560		0.708	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3KRP	HGNC	protein_coding	OTTHUMT00000439219.1	10	0.00	0	-	NM_024619		80674690	80674691	+1	no_errors	ENST00000269373	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.730:0.064	G
GGT3P	2679	genome.wustl.edu	37	22	18766253	18766253	+	RNA	SNP	T	T	C			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr22:18766253T>C	ENST00000412448.1	-	0	1461							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										CTCAGTCACATCCACAAACTT	0.632																																						dbGAP											0																																										-	-	-			0					22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18766253T>C				RNA	SNP	-	NULL	ENST00000412448.1	37	NULL		22																																																																																			GGT3P	-	-	ENSG00000197421		0.632	GGT3P-002	KNOWN	basic	processed_transcript	GGT3P	HGNC	pseudogene	OTTHUMT00000341281.1	10	0.00	0	T	NR_003267		18766253	18766253	-1	no_errors	ENST00000412448	ensembl	human	known	69_37n	rna	3	40.00	2	SNP	1.000	C
HECW2	57520	genome.wustl.edu	37	2	197081794	197081794	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr2:197081794T>C	ENST00000260983.3	-	27	4614	c.4432A>G	c.(4432-4434)Att>Gtt	p.I1478V	HECW2_ENST00000409111.1_Missense_Mutation_p.I1122V|snoU13_ENST00000459047.1_RNA	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1478	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I1478V(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AACCACCGAATTACAATATGA	0.363																																						dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	152.0	155.0					2																	197081794		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4432A>G	2.37:g.197081794T>C	ENSP00000260983:p.Ile1478Val		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.I1478V	ENST00000260983.3	37	c.4432	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	T	19.47	3.832838	0.71258	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57752	0.38;0.38	4.85	4.85	0.62838	HECT (4);	0.000000	0.33401	U	0.004956	T	0.48786	0.1519	N	0.20357	0.565	0.80722	D	1	P	0.51351	0.944	P	0.52267	0.694	T	0.46541	-0.9184	10	0.34782	T	0.22	.	14.9066	0.70724	0.0:0.0:0.0:1.0	.	1478	Q9P2P5	HECW2_HUMAN	V	1122;1478	ENSP00000386775:I1122V;ENSP00000260983:I1478V	ENSP00000260983:I1478V	I	-	1	0	HECW2	196790039	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.476000	0.81055	2.160000	0.67779	0.533000	0.62120	ATT	HECW2	-	pfam_HECT,smart_HECT,pfscan_HECT	ENSG00000138411		0.363	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	286	0.00	0	T	NM_020760		197081794	197081794	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	104	40.23	70	SNP	1.000	C
HIST1H3G	8355	genome.wustl.edu	37	6	26271388	26271388	+	Silent	SNP	G	G	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr6:26271388G>A	ENST00000305910.3	-	1	224	c.225C>T	c.(223-225)atC>atT	p.I75I	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	75					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.I75I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						AGTCCTGAGCGATTTCTCGCA	0.597																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											81.0	83.0	82.0					6																	26271388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.225C>T	6.37:g.26271388G>A			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.I75	ENST00000305910.3	37	c.225	CCDS4602.1	6																																																																																			HIST1H3G	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000256018		0.597	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2	65	0.00	0	G	NM_003534		26271388	26271388	-1	no_errors	ENST00000305910	ensembl	human	known	69_37n	silent	59	30.59	26	SNP	1.000	A
IQCG	84223	genome.wustl.edu	37	3	197670853	197670853	+	Silent	SNP	G	G	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr3:197670853G>A	ENST00000265239.6	-	4	502	c.78C>T	c.(76-78)ggC>ggT	p.G26G	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.G26G|IQCG_ENST00000453254.1_Silent_p.G26G	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	26						extracellular vesicular exosome (GO:0070062)		p.G26G(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TAGGTGGTTCGCCTGTCACTG	0.438																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											139.0	140.0	139.0					3																	197670853		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.78C>T	3.37:g.197670853G>A			Q9BST2|Q9HAG8	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.G26	ENST00000265239.6	37	c.78	CCDS3331.1	3																																																																																			IQCG	-	NULL	ENSG00000114473		0.438	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	46	0.00	0	G	NM_032263		197670853	197670853	-1	no_errors	ENST00000265239	ensembl	human	known	69_37n	silent	24	35.00	14	SNP	0.000	A
KIAA0922	23240	genome.wustl.edu	37	4	154556719	154556719	+	Missense_Mutation	SNP	C	C	T	rs201480266		TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr4:154556719C>T	ENST00000409663.3	+	34	4602	c.4550C>T	c.(4549-4551)tCt>tTt	p.S1517F	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1434F|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1518F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1517						integral component of membrane (GO:0016021)		p.S1518F(1)|p.S1370F(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTCATCAGCTCTCCGGTCAGT	0.532																																						dbGAP											2	Substitution - Missense(2)	breast(2)											106.0	76.0	86.0					4																	154556719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4550C>T	4.37:g.154556719C>T	ENSP00000386574:p.Ser1517Phe		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S1518F	ENST00000409663.3	37	c.4553	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741884	0.49151	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.25250	2.07;1.81;2.07;1.82	5.62	3.87	0.44632	.	0.493763	0.24942	N	0.034372	T	0.42517	0.1206	L	0.48642	1.525	0.45318	D	0.998319	D;D;D	0.71674	0.998;0.983;0.971	D;P;P	0.69654	0.965;0.795;0.629	T	0.26677	-1.0096	10	0.72032	D	0.01	-4.5687	13.7198	0.62720	0.405:0.595:0.0:0.0	.	1434;1518;1517	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	F	1517;1434;1518;1295	ENSP00000386574:S1517F;ENSP00000409663:S1434F;ENSP00000386787:S1518F;ENSP00000240487:S1295F	ENSP00000240487:S1295F	S	+	2	0	KIAA0922	154776169	0.366000	0.25014	0.983000	0.44433	0.983000	0.72400	1.367000	0.34204	0.692000	0.31613	0.655000	0.94253	TCT	KIAA0922	-	NULL	ENSG00000121210		0.532	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	70	0.00	0	C	NM_015196		154556719	154556719	+1	no_errors	ENST00000409959	ensembl	human	known	69_37n	missense	80	18.37	18	SNP	0.839	T
KIF21B	23046	genome.wustl.edu	37	1	200958025	200958025	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr1:200958025C>T	ENST00000422435.2	-	22	3483	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1056Q|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1056Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1056Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1056					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1056Q(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCAACAGCCGGATCTGGGC	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											32.0	31.0	31.0					1																	200958025		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3167G>A	1.37:g.200958025C>T	ENSP00000411831:p.Arg1056Gln		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R1056Q	ENST00000422435.2	37	c.3167	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743688	0.69418	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.67	4.67	0.58626	Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.66939	2.045	0.54753	D	0.999987	B;B;B;B	0.31817	0.231;0.231;0.231;0.341	B;B;B;B	0.19148	0.01;0.01;0.01;0.024	T	0.75091	-0.3440	10	0.39692	T	0.17	.	17.9319	0.88999	0.0:1.0:0.0:0.0	.	1056;1056;1056;1056	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Q	1056	ENSP00000328494:R1056Q;ENSP00000353724:R1056Q;ENSP00000433808:R1056Q;ENSP00000411831:R1056Q	ENSP00000328494:R1056Q	R	-	2	0	KIF21B	199224648	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.918000	0.63376	2.305000	0.77605	0.491000	0.48974	CGG	KIF21B	-	superfamily_Prefoldin	ENSG00000116852		0.617	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	37	0.00	0	C	XM_371332		200958025	200958025	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151859396	151859396	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr7:151859396delC	ENST00000262189.6	-	43	11484	c.11266delG	c.(11266-11268)gcafs	p.A3756fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.A3756fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3756					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A3756fs*22(2)									GGACTCTGTGCTGAGGAGACA	0.502																																						dbGAP											2	Deletion - Frameshift(2)	breast(2)											85.0	86.0	86.0					7																	151859396		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11266delG	7.37:g.151859396delC	ENSP00000262189:p.Ala3756fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A3756fs	ENST00000262189.6	37	c.11266	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	105	0.00	0	C			151859396	151859396	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	60	13.70	10	DEL	0.001	-
MXRA5	25878	genome.wustl.edu	37	X	3238811	3238811	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chrX:3238811G>A	ENST00000217939.6	-	5	5069	c.4915C>T	c.(4915-4917)Cct>Tct	p.P1639S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1639						extracellular vesicular exosome (GO:0070062)		p.P1639S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGTGACGAGGTGACTGGGAA	0.458																																						dbGAP											2	Substitution - Missense(2)	breast(2)											193.0	181.0	185.0					X																	3238811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4915C>T	X.37:g.3238811G>A	ENSP00000217939:p.Pro1639Ser		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P1639S	ENST00000217939.6	37	c.4915	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	12.21	1.869470	0.32977	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70399	-0.48	3.2	0.233	0.15386	.	0.653572	0.12575	N	0.456926	T	0.62660	0.2446	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.55679	-0.8103	10	0.72032	D	0.01	.	7.8621	0.29516	0.3966:0.0:0.6034:0.0	.	1639	Q9NR99	MXRA5_HUMAN	S	1639	ENSP00000217939:P1639S	ENSP00000217939:P1639S	P	-	1	0	MXRA5	3248811	0.296000	0.24398	0.002000	0.10522	0.001000	0.01503	0.661000	0.25023	-0.008000	0.14320	-0.430000	0.05897	CCT	MXRA5	-	NULL	ENSG00000101825		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	144	0.00	0	G	NM_015419		3238811	3238811	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	135	33.50	68	SNP	0.006	A
MYB	4602	genome.wustl.edu	37	6	135511376	135511377	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr6:135511376_135511377insCA	ENST00000367814.4	+	5	604_605	c.418_419insCA	c.(418-420)ccafs	p.P140fs	MYB_ENST00000316528.8_Frame_Shift_Ins_p.P140fs|MYB_ENST00000420123.2_Frame_Shift_Ins_p.P116fs|MYB_ENST00000534044.1_Frame_Shift_Ins_p.P140fs|MYB_ENST00000533624.1_Frame_Shift_Ins_p.P140fs|MYB_ENST00000341911.5_Frame_Shift_Ins_p.P140fs|MYB_ENST00000525369.1_Frame_Shift_Ins_p.P140fs|MYB_ENST00000442647.2_Frame_Shift_Ins_p.P140fs|MYB_ENST00000534121.1_Frame_Shift_Ins_p.P140fs|MYB_ENST00000527615.1_Frame_Shift_Ins_p.P140fs|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Frame_Shift_Ins_p.P140fs	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	140	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E141fs*81(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCACTTGAATCCAGAAGTTAAG	0.446			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	2	Insertion - Frameshift(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.419_420dupCA	6.37:g.135511377_135511378dupCA	ENSP00000356788:p.Pro140fs		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Frame_Shift_Ins	INS	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E141fs	ENST00000367814.4	37	c.418_419	CCDS5174.1	6																																																																																			MYB	-	superfamily_Homeodomain-like,pfscan_Myb-like_dom	ENSG00000118513		0.446	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	144	0.00	0	-			135511376	135511377	+1	no_errors	ENST00000341911	ensembl	human	known	69_37n	frame_shift_ins	97	27.61	37	INS	1.000:1.000	CA
OSBPL10	114884	genome.wustl.edu	37	3	31725367	31725367	+	Silent	SNP	C	C	T			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr3:31725367C>T	ENST00000396556.2	-	8	1607	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	OSBPL10_ENST00000438237.2_Silent_p.K431K	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	495					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.K495K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGACCCTGTCCTTGGGAACTT	0.547																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											102.0	99.0	100.0					3																	31725367		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1485G>A	3.37:g.31725367C>T			B4E212|Q9BTU5	Missense_Mutation	SNP	pfam_Oxysterol-bd	p.R264K	ENST00000396556.2	37	c.791	CCDS2651.1	3	.	.	.	.	.	.	.	.	.	.	C	7.447	0.641936	0.14451	.	.	ENSG00000144645	ENST00000429492	.	.	.	5.68	2.92	0.33932	.	.	.	.	.	T	0.53883	0.1824	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44298	-0.9337	4	.	.	.	-20.9083	5.5334	0.16997	0.138:0.6013:0.0:0.2607	.	.	.	.	K	264	.	.	R	-	2	0	OSBPL10	31700371	1.000000	0.71417	0.993000	0.49108	0.731000	0.41821	1.672000	0.37523	0.427000	0.26145	0.591000	0.81541	AGG	OSBPL10	-	pfam_Oxysterol-bd	ENSG00000144645		0.547	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2	161	0.00	0	C			31725367	31725367	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000429492	ensembl	human	putative	69_37n	missense	132	10.74	16	SNP	0.991	T
PIWIL3	440822	genome.wustl.edu	37	22	25158460	25158460	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr22:25158460C>T	ENST00000332271.5	-	2	423	c.7G>A	c.(7-9)Ggt>Agt	p.G3S	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	3					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.G3S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTGCCCTACCAGGCATTGTG	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	64.0	66.0					22																	25158460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.7G>A	22.37:g.25158460C>T	ENSP00000330031:p.Gly3Ser			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.G3S	ENST00000332271.5	37	c.7	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835969	0.50951	.	.	ENSG00000184571	ENST00000332271	T	0.05447	3.44	2.42	2.42	0.29668	.	0.000000	0.85682	U	0.000000	T	0.18635	0.0447	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.00559	-1.1671	10	0.72032	D	0.01	-1.9222	8.4676	0.32966	0.0:1.0:0.0:0.0	.	3;3	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	S	3	ENSP00000330031:G3S	ENSP00000330031:G3S	G	-	1	0	PIWIL3	23488460	0.236000	0.23804	0.745000	0.31077	0.162000	0.22319	2.210000	0.42816	1.689000	0.51079	0.563000	0.77884	GGT	PIWIL3	-	NULL	ENSG00000184571		0.552	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	110	0.00	0	C	NM_001008496		25158460	25158460	-1	no_errors	ENST00000332271	ensembl	human	known	69_37n	missense	83	15.31	15	SNP	0.736	T
RABL6	55684	genome.wustl.edu	37	9	139718076	139718076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr9:139718076delA	ENST00000311502.7	+	2	466	c.230delA	c.(229-231)gagfs	p.E77fs	RABL6_ENST00000371671.4_Frame_Shift_Del_p.E77fs|RABL6_ENST00000357466.2_Frame_Shift_Del_p.E77fs|RABL6_ENST00000371675.3_5'Flank|RABL6_ENST00000432842.2_Frame_Shift_Del_p.E39fs|RABL6_ENST00000371663.4_Frame_Shift_Del_p.E77fs|RP11-216L13.18_ENST00000471502.1_RNA			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	77	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCACACAGGAGATCCAGGTC	0.622																																						dbGAP											0													37.0	45.0	42.0					9																	139718076		2057	4186	6243	-	-	-	SO:0001589	frameshift_variant	0			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.230delA	9.37:g.139718076delA	ENSP00000311134:p.Glu77fs		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Frame_Shift_Del	DEL	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.E77fs	ENST00000311502.7	37	c.230	CCDS48058.1	9																																																																																			RABL6	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	ENSG00000196642		0.622	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4	32	0.00	0	A	NM_024718		139718076	139718076	+1	no_errors	ENST00000371663	ensembl	human	known	69_37n	frame_shift_del	27	52.63	30	DEL	1.000	-
RABL6	55684	genome.wustl.edu	37	9	139718080	139718081	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr9:139718080_139718081insA	ENST00000311502.7	+	2	470_471	c.234_235insA	c.(235-237)cagfs	p.Q79fs	RABL6_ENST00000371671.4_Frame_Shift_Ins_p.Q79fs|RABL6_ENST00000357466.2_Frame_Shift_Ins_p.Q79fs|RABL6_ENST00000371675.3_5'Flank|RABL6_ENST00000432842.2_Frame_Shift_Ins_p.Q41fs|RABL6_ENST00000371663.4_Frame_Shift_Ins_p.Q79fs|RP11-216L13.18_ENST00000471502.1_RNA			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	79	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CACAGGAGATCCAGGTCACCAG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	Exception_encountered	9.37:g.139718080_139718081insA	ENSP00000311134:p.Gln79fs		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.Q78fs	ENST00000311502.7	37	c.234_235	CCDS48058.1	9																																																																																			RABL6	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	ENSG00000196642		0.629	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4	32	0.00	0	-	NM_024718		139718080	139718081	+1	no_errors	ENST00000371663	ensembl	human	known	69_37n	frame_shift_ins	26	52.73	29	INS	1.000:1.000	A
RABL6	55684	genome.wustl.edu	37	9	139718081	139718082	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr9:139718081_139718082insG	ENST00000311502.7	+	2	471_472	c.235_236insG	c.(235-237)cagfs	p.Q79fs	RABL6_ENST00000371671.4_Frame_Shift_Ins_p.Q79fs|RABL6_ENST00000357466.2_Frame_Shift_Ins_p.Q79fs|RABL6_ENST00000371675.3_5'Flank|RABL6_ENST00000432842.2_Frame_Shift_Ins_p.Q41fs|RABL6_ENST00000371663.4_Frame_Shift_Ins_p.Q79fs|RP11-216L13.18_ENST00000471502.1_RNA			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	79	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ACAGGAGATCCAGGTCACCAGC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	Exception_encountered	9.37:g.139718081_139718082insG	ENSP00000311134:p.Gln79fs		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.Q79fs	ENST00000311502.7	37	c.235_236	CCDS48058.1	9																																																																																			RABL6	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	ENSG00000196642		0.629	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4	32	0.00	0	-	NM_024718		139718081	139718082	+1	no_errors	ENST00000371663	ensembl	human	known	69_37n	frame_shift_ins	24	54.72	29	INS	1.000:1.000	G
RDH11	51109	genome.wustl.edu	37	14	68157923	68157923	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr14:68157923C>T	ENST00000381346.4	-	4	498	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	RDH11_ENST00000428130.2_Missense_Mutation_p.V130M|RDH11_ENST00000553384.1_Missense_Mutation_p.V117M|RP11-1012A1.4_ENST00000553306.1_5'Flank|RP11-1012A1.4_ENST00000554493.1_5'Flank	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	130					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.V130M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CACATCATCACTCCTGCATTG	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											245.0	224.0	231.0					14																	68157923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.388G>A	14.37:g.68157923C>T	ENSP00000370750:p.Val130Met		A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.V130M	ENST00000381346.4	37	c.388	CCDS32104.1	14	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002845	0.93287	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557726	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	6.08	5.19	0.71726	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	M	0.70903	2.155	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.99;0.995;0.997	D	0.95069	0.8202	10	0.56958	D	0.05	.	17.5671	0.87923	0.0:0.8765:0.1235:0.0	.	130;117;130	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	M	130;117;130;29;78	ENSP00000370750:V130M;ENSP00000452079:V117M;ENSP00000416395:V130M;ENSP00000450802:V29M;ENSP00000450435:V78M	ENSP00000370750:V130M	V	-	1	0	RDH11	67227676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.088000	0.71371	1.575000	0.49775	0.591000	0.81541	GTG	RDH11	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000072042		0.478	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH11	HGNC	protein_coding	OTTHUMT00000412257.3	81	0.00	0	C			68157923	68157923	-1	no_errors	ENST00000381346	ensembl	human	known	69_37n	missense	144	18.18	32	SNP	1.000	T
SDK2	54549	genome.wustl.edu	37	17	71394281	71394282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr17:71394281_71394282insG	ENST00000392650.3	-	24	3246_3247	c.3246_3247insC	c.(3244-3249)cccagtfs	p.S1083fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.S1083fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1083	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGCTGACTGGGGGGGCTGG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3247dupC	17.37:g.71394288_71394288dupG	ENSP00000376421:p.Ser1083fs		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1082fs	ENST00000392650.3	37	c.3247_3246	CCDS45769.1	17																																																																																			SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.619	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	44	0.00	0	-	NM_019064		71394281	71394282	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	1.000:1.000	G
SFTA3	253970	genome.wustl.edu	37	14	36946266	36946266	+	Silent	SNP	G	G	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr14:36946266G>A	ENST00000518529.2	-	3	846	c.171C>T	c.(169-171)gtC>gtT	p.V57V	SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	57								p.V57V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						CGCAAACAGCGACACAGGTGG	0.517																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											156.0	164.0	161.0					14																	36946266		2118	4228	6346	-	-	-	SO:0001819	synonymous_variant	0			AY102071	CCDS45097.1	14q13.3	2014-06-19	2008-08-26	2008-08-26	ENSG00000229415	ENSG00000229415			18387	protein-coding gene	gene with protein product			"""surfactant associated protein H"""	SFTPH			Standard	NM_001101341		Approved	NANCI	uc001wtr.3	P0C7M3	OTTHUMG00000170540	ENST00000518529.2:c.171C>T	14.37:g.36946266G>A				Silent	SNP	NULL	p.V57	ENST00000518529.2	37	c.171	CCDS45097.1	14																																																																																			SFTA3	-	NULL	ENSG00000229415		0.517	SFTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTA3	HGNC	protein_coding	OTTHUMT00000376217.2	187	0.00	0	G	NM_001101341		36946266	36946266	-1	no_errors	ENST00000518002	ensembl	human	known	69_37n	silent	84	34.88	45	SNP	0.002	A
SHCBP1	79801	genome.wustl.edu	37	16	46617506	46617506	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr16:46617506T>G	ENST00000303383.3	-	12	1881	c.1615A>C	c.(1615-1617)Aat>Cat	p.N539H		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	539					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.N539H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TAACCTTCATTATTATGTATT	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											67.0	69.0	68.0					16																	46617506		2202	4293	6495	-	-	-	SO:0001583	missense	0			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1615A>C	16.37:g.46617506T>G	ENSP00000306473:p.Asn539His		Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	p.N539H	ENST00000303383.3	37	c.1615	CCDS10720.1	16	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643496	0.67244	.	.	ENSG00000171241	ENST00000303383	D	0.84730	-1.89	3.96	3.96	0.45880	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91360	0.5111	10	0.87932	D	0	-20.9903	13.2726	0.60170	0.0:0.0:0.0:1.0	.	539	Q8NEM2	SHCBP_HUMAN	H	539	ENSP00000306473:N539H	ENSP00000306473:N539H	N	-	1	0	SHCBP1	45175007	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.605000	0.74155	1.793000	0.52555	0.377000	0.23210	AAT	SHCBP1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000171241		0.318	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1	HGNC	protein_coding	OTTHUMT00000255740.1	192	0.52	1	T	NM_024745		46617506	46617506	-1	no_errors	ENST00000303383	ensembl	human	known	69_37n	missense	46	37.84	28	SNP	1.000	G
SNRNP40	9410	genome.wustl.edu	37	1	31769548	31769548	+	Silent	SNP	G	G	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr1:31769548G>A	ENST00000263694.4	-	1	69	c.51C>T	c.(49-51)gtC>gtT	p.V17V	ZCCHC17_ENST00000422613.2_5'Flank|ZCCHC17_ENST00000344147.5_5'Flank|ZCCHC17_ENST00000373714.1_5'Flank|ZCCHC17_ENST00000546109.1_5'Flank|SNRNP40_ENST00000446633.2_Silent_p.V17V	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	17					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)	p.V17V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						GCTGCCGCTTGACTGGAACCA	0.657																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											47.0	50.0	49.0					1																	31769548		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.51C>T	1.37:g.31769548G>A			B4DQJ1|O75938|O95320	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V17	ENST00000263694.4	37	c.51	CCDS340.1	1																																																																																			SNRNP40	-	NULL	ENSG00000060688		0.657	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1	39	0.00	0	G	NM_004814		31769548	31769548	-1	no_errors	ENST00000446633	ensembl	human	known	69_37n	silent	25	34.21	13	SNP	0.849	A
TENC1	23371	genome.wustl.edu	37	12	53454755	53454756	+	Frame_Shift_Ins	INS	-	-	C	rs376940195|rs372006021		TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr12:53454755_53454756insC	ENST00000314250.6	+	20	3355_3356	c.3065_3066insC	c.(3064-3069)ggccccfs	p.GP1022fs	TENC1_ENST00000546602.1_Frame_Shift_Ins_p.GP925fs|TENC1_ENST00000549700.1_Frame_Shift_Ins_p.GP957fs|TENC1_ENST00000451358.1_Frame_Shift_Ins_p.GP1012fs|TENC1_ENST00000314276.3_Frame_Shift_Ins_p.GP1032fs|TENC1_ENST00000379902.3_Frame_Shift_Ins_p.GP898fs|TENC1_ENST00000552570.1_Frame_Shift_Ins_p.GP1022fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1022	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCCTCGAGGCCCCCCCGACA	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3072dupC	12.37:g.53454762_53454762dupC	ENSP00000319684:p.Gly1022fs		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Frame_Shift_Ins	INS	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D1035fs	ENST00000314250.6	37	c.3095_3096	CCDS8843.1	12																																																																																			TENC1	-	NULL	ENSG00000111077		0.688	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	16	0.00	0	-	NM_170754		53454755	53454756	+1	no_errors	ENST00000314276	ensembl	human	known	69_37n	frame_shift_ins	15	16.67	3	INS	0.719:0.438	C
TBX3	6926	genome.wustl.edu	37	12	115118782	115118782	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr12:115118782G>A	ENST00000257566.3	-	2	948	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	TBX3_ENST00000349155.2_Missense_Mutation_p.H187Y	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	187					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H187Y(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTGTCCGGGTGAATGTACATC	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											110.0	105.0	106.0					12																	115118782		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.559C>T	12.37:g.115118782G>A	ENSP00000257566:p.His187Tyr		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.H187Y	ENST00000257566.3	37	c.559	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.272843	0.95429	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.93426	-3.22;-3.22	5.81	5.81	0.92471	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	0.98;1.0;0.999	D;D;D	0.97110	0.969;1.0;0.995	D	0.98288	1.0512	10	0.66056	D	0.02	.	19.0715	0.93140	0.0:0.0:1.0:0.0	.	187;187;187	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	Y	187	ENSP00000257567:H187Y;ENSP00000257566:H187Y	ENSP00000257566:H187Y	H	-	1	0	TBX3	113603165	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.756000	0.94617	0.655000	0.94253	CAC	TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.473	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	91	0.00	0	G	NM_016569, NM_005996		115118782	115118782	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	missense	80	16.67	16	SNP	1.000	A
TMEM150A	129303	genome.wustl.edu	37	2	85826426	85826426	+	Missense_Mutation	SNP	C	C	T	rs550018203		TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr2:85826426C>T	ENST00000409668.1	-	7	1056	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	TMEM150A_ENST00000334462.5_Missense_Mutation_p.V197I|TMEM150A_ENST00000306353.3_Missense_Mutation_p.V144I			Q86TG1	T150A_HUMAN	transmembrane protein 150A	197					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V197I(1)		breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CTCTCATGGACAAAGAAGACT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		22314	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	breast(1)											74.0	63.0	66.0					2																	85826426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.589G>A	2.37:g.85826426C>T	ENSP00000387292:p.Val197Ile		A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.V197I	ENST00000409668.1	37	c.589	CCDS33233.1	2	.	.	.	.	.	.	.	.	.	.	C	2.475	-0.320998	0.05386	.	.	ENSG00000168890	ENST00000306353;ENST00000334462;ENST00000409668	T;T;T	0.41065	1.01;1.01;1.01	5.51	-2.79	0.05841	.	0.381500	0.30483	N	0.009521	T	0.10637	0.0260	N	0.02539	-0.55	0.28296	N	0.923332	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.18398	-1.0338	10	0.10111	T	0.7	-20.164	1.6428	0.02756	0.1331:0.1445:0.2839:0.4386	.	144;197	Q86TG1-2;Q86TG1	.;T150A_HUMAN	I	144;197;197	ENSP00000302715:V144I;ENSP00000334708:V197I;ENSP00000387292:V197I	ENSP00000302715:V144I	V	-	1	0	TMEM150A	85679937	1.000000	0.71417	0.713000	0.30519	0.921000	0.55340	0.711000	0.25764	-0.394000	0.07727	-0.140000	0.14226	GTC	TMEM150A	-	pfam_Frag1/DRAM/Sfk1	ENSG00000168890		0.502	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM150A	HGNC	protein_coding	OTTHUMT00000329474.1	25	0.00	0	C	NM_153342		85826426	85826426	-1	no_errors	ENST00000334462	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	0.966	T
TRIM14	9830	genome.wustl.edu	37	9	100862246	100862246	+	Silent	SNP	G	G	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr9:100862246G>A	ENST00000341469.2	-	3	513	c.504C>T	c.(502-504)atC>atT	p.I168I	TRIM14_ENST00000342043.3_Silent_p.I168I|TRIM14_ENST00000375098.3_Silent_p.I168I	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	168					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCTCCTGGCTGATACTCCAGA	0.527																																					Colon(14;460 597 13826 51781)	dbGAP											0													99.0	90.0	93.0					9																	100862246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.504C>T	9.37:g.100862246G>A			A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Nonsense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.Q74*	ENST00000341469.2	37	c.220	CCDS6734.1	9																																																																																			TRIM14	-	NULL	ENSG00000106785		0.527	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM14	HGNC	protein_coding	OTTHUMT00000053350.1	57	0.00	0	G	NM_014788		100862246	100862246	-1	no_errors	ENST00000475147	ensembl	human	known	69_37n	nonsense	51	26.09	18	SNP	0.005	A
VCL	7414	genome.wustl.edu	37	10	75843202	75843202	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr10:75843202G>T	ENST00000211998.4	+	8	1047	c.953G>T	c.(952-954)cGc>cTc	p.R318L	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R318L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	318	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R318L(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GGCAAAGAACGCAGGGAGATT	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											112.0	109.0	110.0					10																	75843202		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.953G>T	10.37:g.75843202G>T	ENSP00000211998:p.Arg318Leu		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.R318L	ENST00000211998.4	37	c.953	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550313	0.86127	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	T;T	0.38722	1.12;1.12	5.4	5.4	0.78164	.	0.053777	0.85682	D	0.000000	T	0.66297	0.2775	M	0.73598	2.24	0.80722	D	1	D;P;D	0.64830	0.989;0.913;0.994	D;P;D	0.74023	0.963;0.559;0.982	T	0.67098	-0.5756	10	0.51188	T	0.08	.	19.2345	0.93853	0.0:0.0:1.0:0.0	.	245;318;318	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	L	318;318;225;245	ENSP00000361841:R318L;ENSP00000211998:R318L	ENSP00000211998:R318L	R	+	2	0	VCL	75513208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.545000	0.85829	0.585000	0.79938	CGC	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.468	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		183	0.54	1	G	NM_003373, NM_014000		75843202	75843202	+1	no_errors	ENST00000211998	ensembl	human	known	69_37n	missense	130	32.99	64	SNP	1.000	T
WHAMMP2	440253	genome.wustl.edu	37	15	29000046	29000046	+	RNA	DEL	A	A	-	rs140989842	byFrequency	TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr15:29000046delA	ENST00000512149.2	+	0	471					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		TTAAAGATGTAAGTTCTATAA	0.343																																						dbGAP											0																																										-	-	-			0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.29000046delA				RNA	DEL	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.343	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	75	0.00	0	A	NR_026589		29000046	29000046	+1	no_errors	ENST00000512149	ensembl	human	putative	69_37n	rna	18	10.00	2	DEL	0.836	-
ZFHX3	463	genome.wustl.edu	37	16	72830109	72830109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HQ-01A-11W-A050-09	TCGA-BH-A0HQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f03af67f-3119-4ee4-a4b0-227d36f493ba	006ff264-ef7d-4021-a879-77080c0440cf	g.chr16:72830109G>A	ENST00000268489.5	-	9	7144	c.6472C>T	c.(6472-6474)Cga>Tga	p.R2158*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.R1244*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2158					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2158*(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCAAGACTCGGAGCTGATCA	0.527																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											71.0	68.0	69.0					16																	72830109		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6472C>T	16.37:g.72830109G>A	ENSP00000268489:p.Arg2158*		D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R2158*	ENST00000268489.5	37	c.6472	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	49	16.052298	0.99853	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.51	5.51	0.81932	.	0.000000	0.41396	D	0.000894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.4414	0.61114	0.0:0.0:0.7375:0.2625	.	.	.	.	X	2158;1244	.	ENSP00000268489:R2158X	R	-	1	2	ZFHX3	71387610	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.772000	0.38552	2.570000	0.86706	0.561000	0.74099	CGA	ZFHX3	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000140836		0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	81	0.00	0	G	NM_006885		72830109	72830109	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	nonsense	19	66.07	37	SNP	1.000	A
