#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
BARHL1	56751	genome.wustl.edu	37	9	135458232	135458232	+	Silent	SNP	C	C	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr9:135458232C>T	ENST00000263610.2	+	1	661	c.48C>T	c.(46-48)cgC>cgT	p.R16R	BARHL1_ENST00000542090.1_Silent_p.R16R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	16					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCTCCCACCGCGCGGGCAGCC	0.657																																						dbGAP											0													53.0	56.0	55.0					9																	135458232		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.48C>T	9.37:g.135458232C>T			Q5T6V2|Q9NY88	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R16	ENST00000263610.2	37	c.48	CCDS6950.1	9																																																																																			BARHL1	-	NULL	ENSG00000125492		0.657	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL1	HGNC	protein_coding	OTTHUMT00000054789.2	52	0.00	0	C			135458232	135458232	+1	no_errors	ENST00000263610	ensembl	human	known	69_37n	silent	16	27.27	6	SNP	0.879	T
CD300E	342510	genome.wustl.edu	37	17	72619828	72619828	+	5'Flank	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr17:72619828G>A	ENST00000328630.3	-	0	0				CD300E_ENST00000392619.1_Missense_Mutation_p.P5L|CD300E_ENST00000426295.2_Missense_Mutation_p.P19L			Q496F6	CLM2_HUMAN	CD300e molecule						innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TATATGTAACGGAGCCTGGGT	0.458																																						dbGAP											0													74.0	73.0	73.0					17																	72619828		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605		17.37:g.72619828G>A	Exception_encountered		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.P19L	ENST00000328630.3	37	c.56	CCDS11702.1	17	.	.	.	.	.	.	.	.	.	.	G	1.727	-0.495130	0.04322	.	.	ENSG00000186407	ENST00000392619;ENST00000426295	T;T	0.04317	3.78;3.65	3.21	-3.54	0.04653	.	.	.	.	.	T	0.03136	0.0092	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45425	-0.9262	6	0.26408	T	0.33	.	4.558	0.12145	0.3117:0.3514:0.3369:0.0	.	.	.	.	L	5;19	ENSP00000376395:P5L;ENSP00000416642:P19L	ENSP00000376395:P5L	P	-	2	0	CD300E	70131423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.101000	0.15251	-0.887000	0.03961	-2.214000	0.00298	CCG	CD300E	-	NULL	ENSG00000186407		0.458	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300E	HGNC	protein_coding		196	0.00	0	G	NM_181449		72619828	72619828	-1	no_errors	ENST00000426295	ensembl	human	known	69_37n	missense	201	27.70	77	SNP	0.000	A
CDC42BPA	8476	genome.wustl.edu	37	1	227288919	227288919	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr1:227288919G>A	ENST00000366769.3	-	15	3314	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P675S|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P594S|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P675S|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P675S|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P675S|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P675S	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P675T(2)|p.P594T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATACTCCTGGTGAGTAACTA	0.259																																						dbGAP											3	Substitution - Missense(3)	endometrium(3)											66.0	67.0	66.0					1																	227288919		2199	4293	6492	-	-	-	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2023C>T	1.37:g.227288919G>A	ENSP00000355731:p.Pro675Ser			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.P675S	ENST00000366769.3	37	c.2023	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	g	9.378	1.072212	0.20147	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.64618	-0.09;-0.1;-0.1;-0.1;-0.11;-0.08;-0.09	5.57	5.57	0.84162	.	0.211271	0.49916	D	0.000132	T	0.51176	0.1659	N	0.25789	0.76	0.42293	D	0.992146	B;B;B;B	0.30236	0.274;0.011;0.12;0.036	B;B;B;B	0.32624	0.086;0.009;0.149;0.015	T	0.47459	-0.9116	10	0.09338	T	0.73	.	19.5667	0.95397	0.0:0.0:1.0:0.0	.	675;675;594;675	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	S	675;594;675;675;675;675;675	ENSP00000355731:P675S;ENSP00000355729:P594S;ENSP00000335341:P675S;ENSP00000355728:P675S;ENSP00000355726:P675S;ENSP00000443275:P675S;ENSP00000355727:P675S	ENSP00000335341:P675S	P	-	1	0	CDC42BPA	225355542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.439000	0.44846	2.604000	0.88044	0.645000	0.84053	CCA	CDC42BPA	-	NULL	ENSG00000143776		0.259	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	207	0.00	0	G	NM_014826		227288919	227288919	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	missense	197	45.28	163	SNP	1.000	A
COL12A1	1303	genome.wustl.edu	37	6	75884984	75884984	+	Missense_Mutation	SNP	G	G	A	rs149832668	byFrequency	TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr6:75884984G>A	ENST00000322507.8	-	13	2789	c.2480C>T	c.(2479-2481)aCg>aTg	p.T827M	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.T827M|COL12A1_ENST00000483888.2_Missense_Mutation_p.T827M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	827	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CATAGTAGACGTCGTAGGGTC	0.393													G|||	6	0.00119808	0.0	0.0	5008	,	,		19274	0.006		0.0	False		,,,				2504	0.0					dbGAP											0													110.0	105.0	106.0					6																	75884984		1858	4084	5942	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2480C>T	6.37:g.75884984G>A	ENSP00000325146:p.Thr827Met		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T827M	ENST00000322507.8	37	c.2480	CCDS43482.1	6	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	14.73	2.622277	0.46840	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.58506	0.33;0.33;0.33	5.79	5.79	0.91817	Fibronectin, type III (4);	0.000000	0.64402	D	0.000001	T	0.40743	0.1129	L	0.53671	1.685	0.39548	D	0.968935	P	0.39903	0.694	B	0.30716	0.119	T	0.44221	-0.9342	10	0.35671	T	0.21	.	20.0326	0.97545	0.0:0.0:1.0:0.0	.	827	Q99715	COCA1_HUMAN	M	827	ENSP00000325146:T827M;ENSP00000412864:T827M;ENSP00000421216:T827M	ENSP00000325146:T827M	T	-	2	0	COL12A1	75941704	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.018000	0.70811	2.732000	0.93576	0.557000	0.71058	ACG	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	212	0.00	0	G	NM_004370		75884984	75884984	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	157	29.60	66	SNP	1.000	A
CUL4B	8450	genome.wustl.edu	37	X	119678367	119678367	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chrX:119678367C>T	ENST00000404115.3	-	8	1507	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	CUL4B_ENST00000336592.6_Missense_Mutation_p.R356Q|CUL4B_ENST00000371322.5_Missense_Mutation_p.R351Q|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	369					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R351Q(1)|p.R369Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAAAGGCTTCGAAGTAAACT	0.373																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											118.0	103.0	108.0					X																	119678367		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1106G>A	X.37:g.119678367C>T	ENSP00000384109:p.Arg369Gln		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R369Q	ENST00000404115.3	37	c.1106	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865263	0.71949	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.74	5.74	0.90152	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	L	0.58810	1.83	0.80722	D	1	B;D;D	0.54772	0.374;0.968;0.96	B;B;B	0.32393	0.018;0.145;0.09	T	0.74453	-0.3660	9	.	.	.	-5.6714	17.7661	0.88478	0.0:1.0:0.0:0.0	.	173;369;351	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	Q	351;356;369;173	ENSP00000360373:R351Q;ENSP00000338919:R356Q;ENSP00000384109:R369Q;ENSP00000360374:R173Q	.	R	-	2	0	CUL4B	119562395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.754000	0.85163	2.415000	0.81967	0.600000	0.82982	CGA	CUL4B	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000158290		0.373	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	229	0.00	0	C	NM_003588		119678367	119678367	-1	no_errors	ENST00000404115	ensembl	human	known	69_37n	missense	296	15.43	54	SNP	1.000	T
DNPEP	23549	genome.wustl.edu	37	2	220249154	220249154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr2:220249154delA	ENST00000273075.4	-	9	1006	c.786delT	c.(784-786)ggtfs	p.G262fs	DNPEP_ENST00000490371.1_5'Flank|DNPEP_ENST00000373972.1_Frame_Shift_Del_p.G187fs|DNPEP_ENST00000523282.1_Frame_Shift_Del_p.G270fs	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	252					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCATAGGCACCACCCAAGA	0.577																																						dbGAP											0													61.0	69.0	67.0					2																	220249154		2024	4185	6209	-	-	-	SO:0001589	frameshift_variant	0				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.786delT	2.37:g.220249154delA	ENSP00000273075:p.Gly262fs		Q9BW44|Q9NUV5	Frame_Shift_Del	DEL	pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18	p.A263fs	ENST00000273075.4	37	c.786	CCDS42823.1	2																																																																																			DNPEP	-	pfam_Peptidase_M18	ENSG00000123992		0.577	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNPEP	HGNC	protein_coding	OTTHUMT00000130212.1	35	0.00	0	A	NM_012100		220249154	220249154	-1	no_errors	ENST00000273075	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	0.803	-
FSIP2	401024	genome.wustl.edu	37	2	186673142	186673142	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr2:186673142delA	ENST00000424728.1	+	17	19109	c.19109delA	c.(19108-19110)gaafs	p.E6370fs	FSIP2_ENST00000343098.5_Frame_Shift_Del_p.E6459fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6370										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGCAAAGATGAAAAAAACTTA	0.348																																						dbGAP											0													25.0	24.0	24.0					2																	186673142		1818	4059	5877	-	-	-	SO:0001589	frameshift_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19109delA	2.37:g.186673142delA	ENSP00000401306:p.Glu6370fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Del	DEL	NULL	p.N6461fs	ENST00000424728.1	37	c.19376		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.348	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	150	0.00	0	A	NM_173651		186673142	186673142	+1	no_errors	ENST00000343098	ensembl	human	known	69_37n	frame_shift_del	112	26.62	41	DEL	0.001	-
GJB3	2707	genome.wustl.edu	37	1	35251060	35251060	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr1:35251060G>A	ENST00000373366.2	+	2	1312	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.A233T	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	233					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTCGTCCTCCGCCAGCCGAGC	0.632																																						dbGAP											0													31.0	31.0	31.0					1																	35251060		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.697G>A	1.37:g.35251060G>A	ENSP00000362464:p.Ala233Thr		B2R790|Q2TAZ8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31	p.A233T	ENST00000373366.2	37	c.697	CCDS384.1	1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261542	0.05791	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.97752	-4.52;-4.52	5.03	-10.1	0.00402	.	2.095770	0.02337	N	0.074477	D	0.91009	0.7172	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83820	0.0246	10	0.12430	T	0.62	.	10.795	0.46455	0.0789:0.0641:0.538:0.319	.	233	O75712	CXB3_HUMAN	T	233;233;217	ENSP00000362464:A233T;ENSP00000362460:A233T	ENSP00000362460:A233T	A	+	1	0	GJB3	35023647	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.581000	0.05820	-3.943000	0.00089	-2.233000	0.00290	GCC	GJB3	-	NULL	ENSG00000188910		0.632	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB3	HGNC	protein_coding	OTTHUMT00000011559.1	31	0.00	0	G	NM_024009		35251060	35251060	+1	no_errors	ENST00000373362	ensembl	human	known	69_37n	missense	13	32.14	9	SNP	0.000	A
HEY1	23462	genome.wustl.edu	37	8	80677554	80677554	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr8:80677554A>T	ENST00000354724.3	-	5	983	c.784T>A	c.(784-786)Tcg>Acg	p.S262T	RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000523976.1_Missense_Mutation_p.S172T|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000337919.5_Missense_Mutation_p.S266T	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	262					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGGAAGGCCGACAGGGAGGCC	0.632			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	0													27.0	19.0	22.0					8																	80677554		2185	4282	6467	-	-	-	SO:0001583	missense	0			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.784T>A	8.37:g.80677554A>T	ENSP00000346761:p.Ser262Thr	1200	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Missense_Mutation	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.S266T	ENST00000354724.3	37	c.796	CCDS6225.1	8	.	.	.	.	.	.	.	.	.	.	A	8.026	0.760701	0.15914	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919;ENST00000523976	T;T;T	0.59364	0.28;0.27;0.8	5.79	5.79	0.91817	.	0.293666	0.38492	N	0.001661	T	0.50650	0.1628	L	0.47716	1.5	0.80722	D	1	B;B	0.30511	0.282;0.016	B;B	0.29524	0.103;0.02	T	0.45977	-0.9224	10	0.17369	T	0.5	-14.7489	16.1342	0.81471	1.0:0.0:0.0:0.0	.	262;266	Q9Y5J3;Q9Y5J3-2	HEY1_HUMAN;.	T	262;266;266;172	ENSP00000346761:S262T;ENSP00000338272:S266T;ENSP00000429792:S172T	ENSP00000338272:S266T	S	-	1	0	HEY1	80840109	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.119000	0.77145	2.209000	0.71365	0.533000	0.62120	TCG	HEY1	-	NULL	ENSG00000164683		0.632	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HEY1	HGNC	protein_coding	OTTHUMT00000379516.1	12	0.00	0	A	NM_012258		80677554	80677554	-1	no_errors	ENST00000337919	ensembl	human	known	69_37n	missense	2	83.33	10	SNP	1.000	T
HOXA5	3202	genome.wustl.edu	37	7	27182916	27182916	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr7:27182916G>A	ENST00000222726.3	-	1	371	c.311C>T	c.(310-312)tCc>tTc	p.S104F	HOXA6_ENST00000521478.1_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	104					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGCCACGGCGGAGCAGGGCAG	0.741																																					Colon(119;75 2200 7557 42868)	dbGAP											0													11.0	13.0	13.0					7																	27182916		2163	4203	6366	-	-	-	SO:0001583	missense	0				CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.311C>T	7.37:g.27182916G>A	ENSP00000222726:p.Ser104Phe		A4D179|O43367|Q96CY6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S104F	ENST00000222726.3	37	c.311	CCDS5406.1	7	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634338	0.67130	.	.	ENSG00000106004	ENST00000222726	D	0.92048	-2.96	5.46	5.46	0.80206	.	0.186970	0.47093	D	0.000254	D	0.92014	0.7470	M	0.66439	2.03	0.80722	D	1	P	0.37864	0.61	B	0.38803	0.282	D	0.92590	0.6082	10	0.72032	D	0.01	.	18.8965	0.92426	0.0:0.0:1.0:0.0	.	104	P20719	HXA5_HUMAN	F	104	ENSP00000222726:S104F	ENSP00000222726:S104F	S	-	2	0	HOXA5	27149441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.166000	0.94766	2.544000	0.85801	0.591000	0.81541	TCC	HOXA5	-	NULL	ENSG00000106004		0.741	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA5	HGNC	protein_coding	OTTHUMT00000358705.1	15	0.00	0	G			27182916	27182916	-1	no_errors	ENST00000222726	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	A
HYAL2	8692	genome.wustl.edu	37	3	50355675	50355675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr3:50355675delT	ENST00000447092.1	-	3	3599	c.1307delA	c.(1306-1308)gagfs	p.E436fs	TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000442581.1_Frame_Shift_Del_p.E436fs|HYAL2_ENST00000357750.4_Frame_Shift_Del_p.E436fs|HYAL2_ENST00000395139.3_Frame_Shift_Del_p.E436fs			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	436	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTGGCATTGCTCACCACTCCA	0.647																																						dbGAP											0													56.0	56.0	56.0					3																	50355675		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.1307delA	3.37:g.50355675delT	ENSP00000401853:p.Glu436fs		B3KRZ2|O15177|Q9BW29	Frame_Shift_Del	DEL	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.E436fs	ENST00000447092.1	37	c.1307	CCDS2818.1	3																																																																																			HYAL2	-	pirsf_Hyaluronidase	ENSG00000068001		0.647	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	29	0.00	0	T	NM_003773		50355675	50355675	-1	no_errors	ENST00000357750	ensembl	human	known	69_37n	frame_shift_del	6	33.33	3	DEL	0.903	-
HYAL2	8692	genome.wustl.edu	37	3	50355680	50355681	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr3:50355680_50355681insTT	ENST00000447092.1	-	3	3593_3594	c.1301_1302insAA	c.(1300-1302)agtfs	p.S434fs	TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000442581.1_Frame_Shift_Ins_p.S434fs|HYAL2_ENST00000357750.4_Frame_Shift_Ins_p.S434fs|HYAL2_ENST00000395139.3_Frame_Shift_Ins_p.S434fs			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	434	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATTGCTCACCACTCCAGCCCAA	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.1301_1302insAA	3.37:g.50355680_50355681insTT	ENSP00000401853:p.Ser434fs		B3KRZ2|O15177|Q9BW29	Frame_Shift_Ins	INS	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.S434fs	ENST00000447092.1	37	c.1302_1301	CCDS2818.1	3																																																																																			HYAL2	-	pirsf_Hyaluronidase	ENSG00000068001		0.653	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	28	0.00	0	-	NM_003773		50355680	50355681	-1	no_errors	ENST00000357750	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.905:0.978	TT
IGHV4-61	28391	genome.wustl.edu	37	14	107095423	107095423	+	RNA	SNP	G	G	A	rs201399631	byFrequency	TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr14:107095423G>A	ENST00000390630.2	-	0	157				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		GCTGCACCTGGGACAGGACCC	0.617													.|||	545	0.108826	0.1778	0.0519	5008	,	,		8491	0.0427		0.0278	False		,,,				2504	0.2076					dbGAP											0													14.0	27.0	23.0					14																	107095423		1750	4010	5760	-	-	-			0			M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095423G>A				Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S19	ENST00000390630.2	37	c.57		14																																																																																			IGHV4-61	-	pfscan_Ig-like	ENSG00000211970		0.617	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV4-61	HGNC	IG_V_gene	OTTHUMT00000324623.1	87	0.00	0	G	NG_001019		107095423	107095423	-1	no_stop_codon	ENST00000390630	ensembl	human	known	69_37n	silent	46	14.81	8	SNP	0.987	A
IRF4	3662	genome.wustl.edu	37	6	397138	397138	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr6:397138G>A	ENST00000380956.4	+	5	649	c.523G>A	c.(523-525)Gac>Aac	p.D175N	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	175					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GCCACCCCTCGACCGAAGCTG	0.587			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													118.0	120.0	119.0					6																	397138		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.523G>A	6.37:g.397138G>A	ENSP00000370343:p.Asp175Asn		Q5VUI7|Q99660	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.D175N	ENST00000380956.4	37	c.523	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115651	0.56505	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97016	-4.21	5.52	5.52	0.82312	.	0.595476	0.19942	N	0.102638	D	0.85465	0.5703	N	0.14661	0.345	0.45295	D	0.998298	B;B;B;P	0.41232	0.091;0.021;0.069;0.743	B;B;B;B	0.24155	0.042;0.009;0.016;0.051	D	0.87089	0.2171	10	0.18276	T	0.48	-25.9749	19.4533	0.94876	0.0:0.0:1.0:0.0	.	175;205;174;175	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	N	175;204	ENSP00000370343:D175N	ENSP00000370343:D175N	D	+	1	0	IRF4	342138	1.000000	0.71417	0.964000	0.40570	0.902000	0.53008	8.046000	0.89438	2.604000	0.88044	0.555000	0.69702	GAC	IRF4	-	NULL	ENSG00000137265		0.587	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	124	0.00	0	G			397138	397138	+1	no_errors	ENST00000380956	ensembl	human	known	69_37n	missense	45	39.19	29	SNP	1.000	A
KLHL15	80311	genome.wustl.edu	37	X	24024161	24024162	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chrX:24024161_24024162insT	ENST00000328046.8	-	3	904_905	c.649_650insA	c.(649-651)accfs	p.T217fs		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	217	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTGAATGATGGTATCGGTATGT	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.650dupA	X.37:g.24024162_24024162dupT	ENSP00000332791:p.Thr217fs		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Frame_Shift_Ins	INS	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T217fs	ENST00000328046.8	37	c.650_649	CCDS35217.1	X																																																																																			KLHL15	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000174010		0.446	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	919	0.00	0	-	XM_040383		24024161	24024162	-1	no_errors	ENST00000328046	ensembl	human	known	69_37n	frame_shift_ins	832	26.76	304	INS	1.000:1.000	T
KRT2	3849	genome.wustl.edu	37	12	53042056	53042056	+	Silent	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr12:53042056G>A	ENST00000309680.3	-	5	1044	c.1023C>T	c.(1021-1023)cgC>cgT	p.R341R		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	341	Linker 12.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGTCCAGGTTGCGGCTGTTGT	0.542																																						dbGAP											0													226.0	194.0	204.0					12																	53042056		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1023C>T	12.37:g.53042056G>A			Q4VAQ2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R341	ENST00000309680.3	37	c.1023	CCDS8835.1	12																																																																																			KRT2	-	pfam_F,superfamily_Prefoldin	ENSG00000172867		0.542	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	HGNC	protein_coding	OTTHUMT00000405704.1	340	0.00	0	G	NM_000423		53042056	53042056	-1	no_errors	ENST00000309680	ensembl	human	known	69_37n	silent	259	29.81	110	SNP	0.001	A
MAP3K1	4214	genome.wustl.edu	37	5	56178024	56178027	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	AGAT	AGAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr5:56178024_56178027delAGAT	ENST00000399503.3	+	14	2997_3000	c.2997_3000delAGAT	c.(2995-3000)acagatfs	p.TD999fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	999					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCACTGCAACAGATGTCTCTAAGC	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2997_3000delAGAT	5.37:g.56178024_56178027delAGAT	ENSP00000382423:p.Thr999fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.D1000fs	ENST00000399503.3	37	c.2997_3000	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.446	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	404	0.00	0	AGAT	XM_042066		56178024	56178027	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	185	27.48	72	DEL	1.000:1.000:1.000:0.958	-
MDM1	56890	genome.wustl.edu	37	12	68719294	68719294	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr12:68719294C>A	ENST00000303145.7	-	4	646	c.560G>T	c.(559-561)aGa>aTa	p.R187I	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000411698.2_Intron	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	187					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCAGAATTTCTCAAGGCATT	0.353																																						dbGAP											0													146.0	158.0	154.0					12																	68719294		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.560G>T	12.37:g.68719294C>A	ENSP00000302537:p.Arg187Ile		B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.R187I	ENST00000303145.7	37	c.560	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091797	0.76756	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.27890	1.64;1.64	5.29	5.29	0.74685	.	0.119207	0.56097	D	0.000025	T	0.40979	0.1139	M	0.73598	2.24	0.80722	D	1	P	0.45715	0.865	P	0.46510	0.519	T	0.26467	-1.0102	9	.	.	.	-16.0677	12.6492	0.56751	0.0:0.9242:0.0:0.0758	.	187	Q8TC05	MDM1_HUMAN	I	187;182	ENSP00000302537:R187I;ENSP00000446000:R182I	.	R	-	2	0	MDM1	67005561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.634000	0.61325	2.654000	0.90174	0.561000	0.74099	AGA	MDM1	-	NULL	ENSG00000111554		0.353	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	544	0.18	1	C	NM_020128		68719294	68719294	-1	no_errors	ENST00000303145	ensembl	human	known	69_37n	missense	365	31.39	167	SNP	1.000	A
NCDN	23154	genome.wustl.edu	37	1	36029024	36029024	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr1:36029024T>G	ENST00000373243.2	+	5	1990	c.1607T>G	c.(1606-1608)aTc>aGc	p.I536S	NCDN_ENST00000356090.4_Missense_Mutation_p.I536S|NCDN_ENST00000373253.3_Missense_Mutation_p.I519S	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	536					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCGGGGCTGATCAAGTGAGGG	0.642																																						dbGAP											0													47.0	48.0	48.0					1																	36029024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1607T>G	1.37:g.36029024T>G	ENSP00000362340:p.Ile536Ser		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.I536S	ENST00000373243.2	37	c.1607	CCDS392.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.288531|4.288531	0.80914|0.80914	.|.	.|.	ENSG00000020129|ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243|ENST00000423723	.|.	.|.	.|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.077425|.	0.64402|.	D|.	0.000017|.	T|T	0.56077|0.56077	0.1961|0.1961	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P|.	0.47841|.	0.901|.	P|.	0.46419|.	0.516|.	T|T	0.53201|0.53201	-0.8472|-0.8472	9|5	0.72032|.	D|.	0.01|.	.|.	13.3517|13.3517	0.60605|0.60605	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	536|.	Q9UBB6|.	NCDN_HUMAN|.	S|A	519;536;536|130	.|.	ENSP00000348394:I536S|.	I|S	+|+	2|1	0|0	NCDN|NCDN	35801611|35801611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.217000|7.217000	0.77982|0.77982	1.748000|1.748000	0.51833|0.51833	0.374000|0.374000	0.22700|0.22700	ATC|TCA	NCDN	-	NULL	ENSG00000020129		0.642	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	54	0.00	0	T	NM_014284		36029024	36029024	+1	no_errors	ENST00000356090	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	G
OASL	8638	genome.wustl.edu	37	12	121458644	121458645	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr12:121458644_121458645delGT	ENST00000257570.5	-	6	1534_1535	c.1264_1265delAC	c.(1264-1266)actfs	p.T422fs	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	422	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATAGATGTGAGTGTGGGAGAAG	0.554																																					Colon(192;517 2041 31392 31913 39966)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1264_1265delAC	12.37:g.121458646_121458647delGT	ENSP00000257570:p.Thr422fs		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Frame_Shift_Del	DEL	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.T422fs	ENST00000257570.5	37	c.1265_1264	CCDS9211.1	12																																																																																			OASL	-	smart_Ubiquitin	ENSG00000135114		0.554	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	234	0.00	0	GT	NM_003733		121458644	121458645	-1	no_errors	ENST00000257570	ensembl	human	known	69_37n	frame_shift_del	278	41.10	194	DEL	0.000:0.000	-
OCRL	4952	genome.wustl.edu	37	X	128692912	128692912	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chrX:128692912G>A	ENST00000371113.4	+	8	821	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.R219Q	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	219					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCTGGGCAGCGGGAGGGTCTC	0.458																																						dbGAP											0													130.0	125.0	126.0					X																	128692912		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.656G>A	X.37:g.128692912G>A	ENSP00000360154:p.Arg219Gln		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R219Q	ENST00000371113.4	37	c.656	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.561181	0.96527	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94687	-3.49;-3.48	5.59	5.59	0.84812	Endonuclease/exonuclease/phosphatase (1);	0.065912	0.64402	D	0.000017	D	0.96306	0.8795	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.96758	0.9559	10	0.66056	D	0.02	.	17.4295	0.87535	0.0:0.0:1.0:0.0	.	219;219	Q01968-2;Q01968	.;OCRL_HUMAN	Q	219	ENSP00000360154:R219Q;ENSP00000349635:R219Q	ENSP00000349635:R219Q	R	+	2	0	OCRL	128520593	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.229000	0.95273	2.330000	0.79161	0.594000	0.82650	CGG	OCRL	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000122126		0.458	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	593	0.00	0	G	NM_000276		128692912	128692912	+1	no_errors	ENST00000371113	ensembl	human	known	69_37n	missense	437	28.48	174	SNP	1.000	A
OGDHL	55753	genome.wustl.edu	37	10	50946283	50946283	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr10:50946283G>T	ENST00000374103.4	-	18	2430	c.2345C>A	c.(2344-2346)cCc>cAc	p.P782H	OGDHL_ENST00000432695.1_Missense_Mutation_p.P573H|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.P725H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	782					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GAACCTTTCGGGCCTCGCTGA	0.622																																						dbGAP											0													109.0	87.0	94.0					10																	50946283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2345C>A	10.37:g.50946283G>T	ENSP00000363216:p.Pro782His		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.P782H	ENST00000374103.4	37	c.2345	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606797	0.46527	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91577	-2.87;-2.87;-2.87	4.84	3.87	0.44632	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	M	0.86864	2.845	0.58432	D	0.999996	D;D;D	0.76494	0.996;0.995;0.999	D;D;D	0.70935	0.951;0.917;0.971	D	0.96035	0.9020	10	0.87932	D	0	.	14.4914	0.67654	0.0:0.1476:0.8524:0.0	.	725;573;782	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	782;725;573	ENSP00000363216:P782H;ENSP00000401356:P725H;ENSP00000390240:P573H	ENSP00000363216:P782H	P	-	2	0	OGDHL	50616289	1.000000	0.71417	0.574000	0.28523	0.112000	0.19704	5.728000	0.68531	2.222000	0.72286	0.650000	0.86243	CCC	OGDHL	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	84	0.00	0	G	NM_018245		50946283	50946283	-1	no_errors	ENST00000374103	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	0.994	T
OR13G1	441933	genome.wustl.edu	37	1	247835571	247835571	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr1:247835571C>T	ENST00000359688.2	-	1	794	c.773G>A	c.(772-774)cGc>cAc	p.R258H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGAAGCAGGGCGGATATAGGT	0.463																																						dbGAP											0													136.0	123.0	127.0					1																	247835571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.773G>A	1.37:g.247835571C>T	ENSP00000352717:p.Arg258His		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R258H	ENST00000359688.2	37	c.773	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096846	0.37048	.	.	ENSG00000197437	ENST00000359688	T	0.37752	1.18	4.2	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000580	T	0.24044	0.0582	L	0.31664	0.95	0.26015	N	0.981932	B	0.21225	0.053	B	0.21546	0.035	T	0.16988	-1.0384	10	0.52906	T	0.07	-14.7377	7.0944	0.25301	0.1695:0.7365:0.0:0.0941	.	258	Q8NGZ3	O13G1_HUMAN	H	258	ENSP00000352717:R258H	ENSP00000352717:R258H	R	-	2	0	OR13G1	245902194	0.000000	0.05858	0.080000	0.20451	0.987000	0.75469	-0.130000	0.10498	0.512000	0.28257	0.563000	0.77884	CGC	OR13G1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197437		0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13G1	HGNC	protein_coding	OTTHUMT00000096869.1	275	0.00	0	C	NM_001005487		247835571	247835571	-1	no_errors	ENST00000359688	ensembl	human	known	69_37n	missense	126	31.15	57	SNP	0.823	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	267	0.37	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	230	58.41	323	SNP	1.000	G
PNCK	139728	genome.wustl.edu	37	X	152936626	152936627	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chrX:152936626_152936627insG	ENST00000370150.1	-	8	811_812	c.633_634insC	c.(631-636)cccttcfs	p.F212fs	PNCK_ENST00000393831.2_Frame_Shift_Ins_p.F235fs|PNCK_ENST00000340888.3_Frame_Shift_Ins_p.F212fs|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000447676.2_Frame_Shift_Ins_p.F295fs|PNCK_ENST00000370142.1_Frame_Shift_Ins_p.F235fs|PNCK_ENST00000370145.4_Frame_Shift_Ins_p.F229fs			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCGTAGAAGGGGGGGTACC	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.634dupC	X.37:g.152936633_152936633dupG	ENSP00000359169:p.Phe212fs		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F294fs	ENST00000370150.1	37	c.883_882		X																																																																																			PNCK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000130822		0.589	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	HGNC	protein_coding	OTTHUMT00000061044.2	58	0.00	0	-	NM_198452		152936626	152936627	-1	no_errors	ENST00000447676	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	1.000:0.876	G
SEPT12	124404	genome.wustl.edu	37	16	4829718	4829718	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr16:4829718G>A	ENST00000268231.8	-	8	1059	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	SEPT12_ENST00000396693.5_Missense_Mutation_p.R220W	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	266	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TTGGTCTTCCGGCCCAGGACA	0.602																																						dbGAP											0													121.0	107.0	112.0					16																	4829718		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.796C>T	16.37:g.4829718G>A	ENSP00000268231:p.Arg266Trp		Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.R266W	ENST00000268231.8	37	c.796	CCDS10522.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980902	0.74474	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.69926	-0.44;-0.44	4.99	2.88	0.33553	.	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	H	0.98849	4.35	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91189	0.4982	10	0.87932	D	0	.	11.979	0.53109	0.0:0.0:0.561:0.4389	.	220;266	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	W	220;266	ENSP00000379922:R220W;ENSP00000268231:R266W	ENSP00000268231:R266W	R	-	1	2	SEPT12	4769719	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.628000	0.46477	1.283000	0.44513	0.655000	0.94253	CGG	SEPT12	-	pfam_Cell_div_GTP-bd,pirsf_Septin	ENSG00000140623		0.602	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	75	0.00	0	G	NM_144605		4829718	4829718	-1	no_errors	ENST00000268231	ensembl	human	known	69_37n	missense	119	17.36	25	SNP	1.000	A
SIPA1L1	26037	genome.wustl.edu	37	14	72055691	72055691	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr14:72055691G>T	ENST00000555818.1	+	2	1450	c.1102G>T	c.(1102-1104)Gtg>Ttg	p.V368L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.V368L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.V368L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	368					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGCAGCTGCCGTGGCATCCTT	0.478																																						dbGAP											0													58.0	61.0	60.0					14																	72055691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1102G>T	14.37:g.72055691G>T	ENSP00000450832:p.Val368Leu		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.V368L	ENST00000555818.1	37	c.1102	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395282	0.42512	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.76186	-1.0;-1.0;-1.0	6.07	6.07	0.98685	.	0.110957	0.64402	D	0.000009	T	0.74458	0.3719	L	0.44542	1.39	0.80722	D	1	B;B;B	0.33940	0.011;0.391;0.433	B;B;B	0.43478	0.003;0.421;0.103	T	0.66131	-0.6000	10	0.10111	T	0.7	-21.7621	20.6593	0.99626	0.0:0.0:1.0:0.0	.	368;368;368	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	L	368	ENSP00000370630:V368L;ENSP00000450832:V368L;ENSP00000351352:V368L	ENSP00000351352:V368L	V	+	1	0	SIPA1L1	71125444	1.000000	0.71417	0.970000	0.41538	0.447000	0.32167	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GTG	SIPA1L1	-	NULL	ENSG00000197555		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	538	0.00	0	G	NM_015556		72055691	72055691	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	missense	234	29.31	97	SNP	1.000	T
SLC12A9	56996	genome.wustl.edu	37	7	100457800	100457800	+	Silent	SNP	G	G	C			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr7:100457800G>C	ENST00000354161.3	+	9	1289	c.1164G>C	c.(1162-1164)gtG>gtC	p.V388V	SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000428758.1_Silent_p.V388V|SLC12A9_ENST00000415287.1_Silent_p.V299V|SLC12A9_ENST00000540482.1_Silent_p.V388V|SLC12A9_ENST00000275729.3_Silent_p.V299V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	388					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCAAGGTTGTGTCCCGAGGGG	0.597																																						dbGAP											0													73.0	66.0	68.0					7																	100457800		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1164G>C	7.37:g.100457800G>C			B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	pfam_AA-permease_dom	p.V388	ENST00000354161.3	37	c.1164	CCDS5707.1	7																																																																																			SLC12A9	-	pfam_AA-permease_dom	ENSG00000146828		0.597	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	HGNC	protein_coding	OTTHUMT00000342837.1	107	0.00	0	G	NM_020246		100457800	100457800	+1	no_errors	ENST00000354161	ensembl	human	known	69_37n	silent	30	54.55	36	SNP	0.882	C
SLFN12	55106	genome.wustl.edu	37	17	33749142	33749142	+	Silent	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr17:33749142G>A	ENST00000394562.1	-	4	1429	c.906C>T	c.(904-906)gtC>gtT	p.V302V	SLFN12_ENST00000304905.5_Silent_p.V302V|SLFN12_ENST00000452764.3_Silent_p.V302V|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	302							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAGTGCACAGACATATCCAC	0.438																																						dbGAP											0													82.0	79.0	80.0					17																	33749142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.906C>T	17.37:g.33749142G>A			A8K711|Q9NP47	Silent	SNP	pfam_ATPase_AAA-4	p.V302	ENST00000394562.1	37	c.906	CCDS11295.1	17																																																																																			SLFN12	-	pfam_ATPase_AAA-4	ENSG00000172123		0.438	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	309	0.00	0	G	NM_018042		33749142	33749142	-1	no_errors	ENST00000304905	ensembl	human	known	69_37n	silent	379	32.92	187	SNP	0.091	A
SYDE2	84144	genome.wustl.edu	37	1	85656406	85656406	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr1:85656406T>C	ENST00000341460.5	-	2	824	c.775A>G	c.(775-777)Atg>Gtg	p.M259V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	259					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTTCCCTTCATTGAAGACCCA	0.363																																						dbGAP											0													158.0	154.0	156.0					1																	85656406		1825	4082	5907	-	-	-	SO:0001583	missense	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.775A>G	1.37:g.85656406T>C	ENSP00000340594:p.Met259Val		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.M259V	ENST00000341460.5	37	c.775	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	T	3.839	-0.034109	0.07543	.	.	ENSG00000097096	ENST00000341460	T	0.05855	3.38	6.17	-5.93	0.02254	.	0.786051	0.12494	N	0.464002	T	0.00906	0.0030	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.47824	-0.9087	10	0.07990	T	0.79	.	11.7033	0.51583	0.0:0.4898:0.2867:0.2235	.	259;259	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	V	259	ENSP00000340594:M259V	ENSP00000340594:M259V	M	-	1	0	SYDE2	85428994	0.000000	0.05858	0.091000	0.20842	0.766000	0.43426	-1.515000	0.02252	-1.431000	0.01982	-0.261000	0.10672	ATG	SYDE2	-	NULL	ENSG00000097096		0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	353	0.00	0	T			85656406	85656406	-1	no_errors	ENST00000341460	ensembl	human	known	69_37n	missense	354	32.12	168	SNP	0.065	C
TCN1	6947	genome.wustl.edu	37	11	59629105	59629105	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr11:59629105C>T	ENST00000257264.3	-	4	555	c.451G>A	c.(451-453)Gtt>Att	p.V151I	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	151	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGCCAAAACGTCCAGGCTG	0.443																																						dbGAP											0													108.0	106.0	107.0					11																	59629105		2201	4295	6496	-	-	-	SO:0001583	missense	0			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.451G>A	11.37:g.59629105C>T	ENSP00000257264:p.Val151Ile		A8KAC5|Q8WV77	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.V151I	ENST00000257264.3	37	c.451	CCDS7978.1	11	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627265	0.28978	.	.	ENSG00000134827	ENST00000257264	T	0.34072	1.38	5.12	0.898	0.19264	.	0.252226	0.25723	N	0.028737	T	0.31857	0.0810	L	0.31664	0.95	0.09310	N	1	D	0.63880	0.993	P	0.53360	0.724	T	0.23511	-1.0186	10	0.23891	T	0.37	.	9.1034	0.36683	0.0:0.4231:0.491:0.0859	.	151	P20061	TCO1_HUMAN	I	151	ENSP00000257264:V151I	ENSP00000257264:V151I	V	-	1	0	TCN1	59385681	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.542000	0.06091	-0.017000	0.14103	-0.176000	0.13171	GTT	TCN1	-	pfam_Cbl-bd_transpt_euk	ENSG00000134827		0.443	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	HGNC	protein_coding	OTTHUMT00000394503.1	344	0.00	0	C	NM_001062		59629105	59629105	-1	no_errors	ENST00000257264	ensembl	human	known	69_37n	missense	211	29.90	90	SNP	0.002	T
TENC1	23371	genome.wustl.edu	37	12	53457540	53457540	+	Silent	SNP	C	C	T			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr12:53457540C>T	ENST00000314250.6	+	29	4394	c.4104C>T	c.(4102-4104)ttC>ttT	p.F1368F	TENC1_ENST00000314276.3_Silent_p.F1378F|TENC1_ENST00000549700.1_Silent_p.F1303F|TENC1_ENST00000546602.1_Silent_p.F1271F|TENC1_ENST00000451358.1_Silent_p.F1358F|TENC1_ENST00000379902.3_Silent_p.F1244F|TENC1_ENST00000552570.1_Silent_p.F1366F	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1368					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						TCTTTGGTTTCGTGGCCAAGA	0.537																																						dbGAP											0													150.0	155.0	153.0					12																	53457540		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.4104C>T	12.37:g.53457540C>T			A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	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.F1378	ENST00000314250.6	37	c.4134	CCDS8843.1	12																																																																																			TENC1	-	pfam_PTB,smart_PTyr_interaction_dom	ENSG00000111077		0.537	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	76	0.00	0	C	NM_170754		53457540	53457540	+1	no_errors	ENST00000314276	ensembl	human	known	69_37n	silent	59	15.71	11	SNP	0.948	T
TOR1AIP2	163590	genome.wustl.edu	37	1	179815877	179815877	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr1:179815877T>G	ENST00000367612.3	-	6	1129	c.742A>C	c.(742-744)Aaa>Caa	p.K248Q	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.K248Q	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GCTGGATTTTTGGGCACTTGC	0.488																																						dbGAP											0													53.0	60.0	58.0					1																	179815877		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.742A>C	1.37:g.179815877T>G	ENSP00000356584:p.Lys248Gln		Q05BU2	Missense_Mutation	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.K248Q	ENST00000367612.3	37	c.742	CCDS1334.1	1	.	.	.	.	.	.	.	.	.	.	T	7.676	0.688055	0.14973	.	.	ENSG00000169905	ENST00000367612	T	0.25085	1.82	5.34	0.531	0.17108	.	0.832903	0.10697	N	0.644492	T	0.14657	0.0354	L	0.28192	0.835	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.37596	-0.9699	10	0.13853	T	0.58	-1.1722	6.8132	0.23817	0.0:0.2447:0.1839:0.5714	.	248	Q8NFQ8	TOIP2_HUMAN	Q	248	ENSP00000356584:K248Q	ENSP00000356584:K248Q	K	-	1	0	TOR1AIP2	178082500	0.000000	0.05858	0.809000	0.32408	0.970000	0.65996	-0.208000	0.09371	0.061000	0.16311	-0.331000	0.08364	AAA	TOR1AIP2	-	pfam_Lamina-ass_polypeptide_CLAP1C	ENSG00000169905		0.488	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1AIP2	HGNC	protein_coding	OTTHUMT00000085304.1	158	0.62	1	T	NM_145034		179815877	179815877	-1	no_errors	ENST00000367612	ensembl	human	known	69_37n	missense	228	18.86	53	SNP	0.389	G
TTC37	9652	genome.wustl.edu	37	5	94858950	94858950	+	Silent	SNP	T	T	G			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr5:94858950T>G	ENST00000358746.2	-	18	2011	c.1713A>C	c.(1711-1713)ggA>ggC	p.G571G	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	571						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AATAGTATAGTCCTCGCCTAA	0.393																																						dbGAP											0													181.0	175.0	177.0					5																	94858950		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1713A>C	5.37:g.94858950T>G			O15077|Q6PJI3	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G571	ENST00000358746.2	37	c.1713	CCDS4072.1	5																																																																																			TTC37	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000198677		0.393	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	HGNC	protein_coding	OTTHUMT00000241651.1	589	0.34	2	T	NM_014639		94858950	94858950	-1	no_errors	ENST00000358746	ensembl	human	known	69_37n	silent	427	28.60	171	SNP	0.085	G
WWC1	23286	genome.wustl.edu	37	5	167881097	167881097	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr5:167881097G>A	ENST00000265293.4	+	18	3152	c.2650G>A	c.(2650-2652)Gca>Aca	p.A884T	WWC1_ENST00000521089.1_Missense_Mutation_p.A884T|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	884	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGGGTACCCAGCATTAAAGGT	0.547																																						dbGAP											0													150.0	139.0	143.0					5																	167881097		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2650G>A	5.37:g.167881097G>A	ENSP00000265293:p.Ala884Thr		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.A884T	ENST00000265293.4	37	c.2650	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.902681|2.902681	0.52227|0.52227	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038|ENST00000393895;ENST00000524228	T;T;T|.	0.56611|.	0.45;0.45;0.45|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.459875|.	0.16398|.	N|.	0.216143|.	T|T	0.56124|0.56124	0.1964|0.1964	L|L	0.36672|0.36672	1.1|1.1	0.42452|0.42452	D|D	0.992758|0.992758	B;B|.	0.34329|.	0.449;0.181|.	B;B|.	0.34536|.	0.185;0.036|.	T|T	0.53308|0.53308	-0.8457|-0.8457	10|5	0.38643|.	T|.	0.18|.	.|.	13.3754|13.3754	0.60736|0.60736	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	884;884|.	Q8IX03-2;Q8IX03|.	.;KIBRA_HUMAN|.	T|N	884;884;210|845;660	ENSP00000265293:A884T;ENSP00000427772:A884T;ENSP00000428084:A210T|.	ENSP00000265293:A884T|.	A|S	+|+	1|2	0|0	WWC1|WWC1	167813675|167813675	0.437000|0.437000	0.25593|0.25593	0.169000|0.169000	0.22859|0.22859	0.663000|0.663000	0.39108|0.39108	2.833000|2.833000	0.48159|0.48159	2.303000|2.303000	0.77524|0.77524	0.637000|0.637000	0.83480|0.83480	GCA|AGC	WWC1	-	NULL	ENSG00000113645		0.547	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	234	0.00	0	G	NM_015238		167881097	167881097	+1	no_errors	ENST00000265293	ensembl	human	known	69_37n	missense	207	51.64	221	SNP	0.774	A
ZNF618	114991	genome.wustl.edu	37	9	116764297	116764297	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A049-01A-21W-A019-09	TCGA-AN-A049-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1d0c87ef-6840-4051-85d5-7fc2c544578c	0a43cf49-03cc-4aa0-bde2-1107ce131db4	g.chr9:116764297G>A	ENST00000374126.5	+	5	554	c.455G>A	c.(454-456)tGt>tAt	p.C152Y	ZNF618_ENST00000288466.7_Missense_Mutation_p.C120Y			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGCGGAATCTGTGGCAAGAAG	0.587																																						dbGAP											0													141.0	142.0	142.0					9																	116764297		1978	4151	6129	-	-	-	SO:0001583	missense	0			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.455G>A	9.37:g.116764297G>A	ENSP00000363241:p.Cys152Tyr		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C152Y	ENST00000374126.5	37	c.455		9	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225088	0.79576	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	5.12	5.12	0.69794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.996;0.999;1.0;0.998	D	0.99916	1.1224	10	0.87932	D	0	-10.3046	16.0721	0.80941	0.0:0.0:1.0:0.0	.	120;120;152;120;120	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	Y	152;120;120;120	ENSP00000363241:C152Y;ENSP00000288466:C120Y;ENSP00000395400:C120Y;ENSP00000363239:C120Y	ENSP00000288466:C120Y	C	+	2	0	ZNF618	115804118	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.751000	0.91628	2.377000	0.81083	0.655000	0.94253	TGT	ZNF618	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000157657		0.587	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	86	0.00	0	G	XM_054983		116764297	116764297	+1	no_errors	ENST00000374126	ensembl	human	known	69_37n	missense	43	24.56	14	SNP	1.000	A
